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Buscar doenças, sintomas, genes...
Síndrome de microcefalia progressiva-convulsões-cegueira cortical-transtorno do desenvolvimento
ORPHA:477814CID-10 · Q02OMIM 616632DOENÇA RARA

A Síndrome de Microcefalia Progressiva, Convulsões, Cegueira Cortical e Atraso no Desenvolvimento é uma síndrome rara e genética, que afeta o cérebro e os olhos. É caracterizada por microcefalia progressiva (cabeça menor que o normal que para de crescer ou até diminui com o tempo) e convulsões que começam cedo na vida, ambas se manifestando após o nascimento. A síndrome está associada a atraso no desenvolvimento em todas as áreas, dificuldade de visão nos dois olhos (causada por um problema no cérebro e não nos próprios olhos) e deficiência intelectual de moderada a grave. Outras características incluem baixa estatura, hipotonia generalizada (fraqueza muscular em todo o corpo) e complicações pulmonares, como infecções respiratórias frequentes e bronquiectasia (uma condição em que as vias aéreas dos pulmões ficam permanentemente dilatadas, facilitando infecções). Exames de audição e metabólicos são normais.

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Introdução

O que você precisa saber de cara

📋

A Síndrome de Microcefalia Progressiva, Convulsões, Cegueira Cortical e Atraso no Desenvolvimento é uma síndrome rara e genética, que afeta o cérebro e os olhos. É caracterizada por microcefalia progressiva (cabeça menor que o normal que para de crescer ou até diminui com o tempo) e convulsões que começam cedo na vida, ambas se manifestando após o nascimento. A síndrome está associada a atraso no desenvolvimento em todas as áreas, dificuldade de visão nos dois olhos (causada por um problema no cérebro e não nos próprios olhos) e deficiência intelectual de moderada a grave. Outras características incluem baixa estatura, hipotonia generalizada (fraqueza muscular em todo o corpo) e complicações pulmonares, como infecções respiratórias frequentes e bronquiectasia (uma condição em que as vias aéreas dos pulmões ficam permanentemente dilatadas, facilitando infecções). Exames de audição e metabólicos são normais.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
9
pacientes catalogados
Início
Infancy
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, CE, DF, SP +5CID-10: Q02
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
8 sintomas
📏
Crescimento
5 sintomas
👁️
Olhos
2 sintomas
🩸
Sangue
2 sintomas
🛡️
Imunológico
2 sintomas
🦴
Ossos e articulações
1 sintomas

+ 7 sintomas em outras categorias

Características mais comuns

100%prev.
Atraso global do desenvolvimento
Muito frequente (99-80%)
100%prev.
Deficiência visual cerebral
Muito frequente (99-80%)
100%prev.
Convulsão
Muito frequente (99-80%)
100%prev.
Atraso de crescimento
Frequência: 5/5
100%prev.
Hipoplasia do corpo caloso
Obrigatório (100%)
90%prev.
Microcefalia progressiva
Muito frequente (99-80%)
29sintomas
Muito frequente (9)
Frequente (4)
Ocasional (14)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 características clínicas mais associadas, ordenadas por frequência.

Atraso global do desenvolvimentoGlobal developmental delay
Muito frequente (99-80%)100%
Deficiência visual cerebralCerebral visual impairment
Muito frequente (99-80%)100%
ConvulsãoSeizure
Muito frequente (99-80%)100%
Atraso de crescimentoGrowth delay
Frequência: 5/5100%
Hipoplasia do corpo calosoHypoplasia of the corpus callosum
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026159 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

DIAPH1Protein diaphanous homolog 1Disease-causing germline mutation(s) (loss of function) inAltamente restrito
FUNÇÃO

Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a

LOCALIZAÇÃO

Cell membraneCell projection, ruffle membraneCytoplasm, cytoskeletonCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindleCytoplasmNucleus

VIAS BIOLÓGICAS (8)
ERBB2 Regulates Cell MotilityRHO GTPases Activate ForminsRegulation of MITF-M dependent genes involved in invasionRHOF GTPase cycleRHOD GTPase cycle
MECANISMO DE DOENÇA

Deafness, autosomal dominant 1, with or without thrombocytopenia

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
99.8 TPM
Músculo esquelético
95.6 TPM
Pulmão
82.2 TPM
Esôfago - Mucosa
81.2 TPM
Skin Sun Exposed Lower leg
72.3 TPM
OUTRAS DOENÇAS (4)
progressive microcephaly-seizures-cortical blindness-developmental delay syndromeautosomal dominant nonsyndromic hearing loss 1Moyamoya diseaseDIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
HGNC:2876UniProt:O60610

Variantes genéticas (ClinVar)

189 variantes patogênicas registradas no ClinVar.

🧬 DIAPH1: NM_005219.5(DIAPH1):c.3149-2A>G ()
🧬 DIAPH1: NM_005219.5(DIAPH1):c.1396+1G>A ()
🧬 DIAPH1: NM_005219.5(DIAPH1):c.118-1G>T ()
🧬 DIAPH1: NM_005219.5(DIAPH1):c.3149-1G>A ()
🧬 DIAPH1: NM_005219.5(DIAPH1):c.3410A>G (p.Asp1137Gly) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1,605 variantes classificadas pelo ClinVar.

963
642
VUS (60.0%)
Benigna (40.0%)
VARIANTES MAIS SIGNIFICATIVAS
DIAPH1: NM_005219.5(DIAPH1):c.3178G>A (p.Asp1060Asn) [Uncertain significance]
DIAPH1: NM_005219.5(DIAPH1):c.29C>T (p.Pro10Leu) [Uncertain significance]
DIAPH1: NM_005219.5(DIAPH1):c.293A>G (p.Gln98Arg) [Uncertain significance]
DIAPH1: NM_005219.5(DIAPH1):c.73G>A (p.Glu25Lys) [Uncertain significance]
DIAPH1: NM_005219.5(DIAPH1):c.2117C>T (p.Pro706Leu) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de microcefalia progressiva-convulsões-cegueira cortical-transtorno do desenvolvimento

Centros de Referência SUS

13 centros habilitados pelo SUS para Síndrome de microcefalia progressiva-convulsões-cegueira cortical-transtorno do desenvolvimento

Centros para Síndrome de microcefalia progressiva-convulsões-cegueira cortical-transtorno do desenvolvimento

Detalhes dos centros

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Genetics in medicine : official journal of the American College of Medical Genetics2026 Mar 16

Biallelic DIAPH1 pathogenic variants cause a neurodevelopmental syndrome occasionally associated with immunodeficiency. This study aims to define the clinical and immunological spectrum of DIAPH1-related neuroimmunological syndrome and explore the gene's developmental role using vertebrate models. 53 individuals with biallelic DIAPH1 variants, including 33 previously unreported patients were studied. Clinical features were analysed and functional studies were conducted using knockout models in Danio rerio and Xenopus tropicalis. Clinical features included developmental delay, intellectual disability, progressive microcephaly, cortical visual impairment or blindness, epilepsy, and frequent occipital-predominant brain abnormalities. Almost half suffered from infections, mainly affecting their respiratory tract related to epilepsy and aspiration. Although the majority had normal lymphocyte subsets and serum immunoglobulins, T-cell receptor excision circles and naïve T-lymphocyte counts were consistently low. The Xenopus model mirrored growth and eye defects seen in humans, while zebrafish exhibited no overt malformations but showed seizure-like behaviour in Phenothiazine assays. DIAPH1 is critical for neurodevelopment, immune regulation, and DNA repair. The DNA repair defect may influence susceptibility to infection, lymphoma, or treatment-related toxicity. Although absolute T-cell numbers are not consistent with SCID, impaired T-cell maturation suggests these patients could be identified by TREC newborn screening before neurological symptoms develop.

#2

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

European journal of neurology2026 Mar

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an extremely rare autosomal recessive disease caused by variants in the thymidine phosphorylase gene (TYMP), primarily characterized by severe gastrointestinal and neurological symptoms. The complete phenotype of MNGIE has not been linked to any gene other than TYMP. We describe two identical twins who exhibited delayed psychomotor development, infantile bilateral cataract, congenital demyelinating polyneuropathy, and severe progressive gastrointestinal dysmotility with recurrent pseudo-obstruction episodes, along with diffuse supratentorial leukoencephalopathy that mainly overlaps with classic TYMP-related MNGIE. During the course of the disease, one patient developed Wernicke encephalopathy, triggered by chronic malnutrition related to recurrent gastrointestinal pseudo-obstruction. This patient later suffered from a catastrophic stroke-like episode, resulting in massive cerebral edema and brain death at the age of 38. Next-generation sequencing (NGS) using a custom-targeted mitochondrial gene panel identified two compound heterozygous variants in the POLG gene: the paternal variants p.Thr251Ile and p.Pro587Leu, occurring in cis, and the novel maternal variant p.Arg853Gly. Quantification of mtDNA by real-time PCR on skeletal muscle DNA detected significant depletion, but no multiple deletions were detected with mtDNA analysis by long-range PCR and Nanopore sequencing. These cases showed a very distinctive POLG phenotype, with some MNGIE-like features, expanding the clinical and genetic spectrum of the POLG-related diseases. Additionally, they highlighted the importance of monitoring for thiamine deficiency in mitochondrial patients with severe gastrointestinal dysmotility who experience sudden clinical deterioration.

#3

Advances in the immunosuppression of porcine reproductive and respiratory syndrome virus.

Frontiers in veterinary science2026

Porcine reproductive and respiratory syndrome (PRRS) is a highly infectious disease caused by the PRRS virus (PRRSV), its impact is second only to that of African swine fever (ASFV). Since the discovery of this disease, comprehensive studies have been conducted on its genome structure, protein function, pathogenicity, transmission route, and epidemiology as well as vaccines, prevention, and control. Despite the availability of numerous vaccines, complete immune protection in pigs is lacking. This limitation may be attributed to immune evasion, immunosuppression, or inherent characteristics of pigs. From the view of immunosuppression, the antigen escape, delayed neutralization antibody production, T cell immunity, antibody dependence enhancement, dendritic cell function inhibition, regulatory T cell induction and thymic destruction of PRRSV were discussed in this review to better understand PRRSV pathogenesis and inform vaccine development.

#4

Delayed acute respiratory distress syndrome and sepsis-associated disseminated intravascular coagulation following aluminium phosphide poisoning.

BMJ case reports2026 Mar 06

Aluminium phosphide is a highly lethal pesticide that liberates phosphine gas, leading to mitochondrial dysfunction, distributive shock and cardiotoxicity, but guidance on late pulmonary complications is limited. We report a previously healthy adolescent who ingested ~1.5 g of aluminium phosphide in a suicide attempt and initially presented haemodynamically stable with metabolic acidosis and elevated lactate. By 72-96 hours, she developed progressive hypoxemic respiratory failure with bilateral infiltrates fulfilling Berlin criteria for moderate acute respiratory distress syndrome (ARDS) (PaO₂/FiO₂ nadir ≈115 on FiO₂ 1.0), preceded by fever and culture-proven lower respiratory and urinary tract infections, resulting in sepsis and disseminated intravascular coagulation (DIC). She required escalation from non-invasive to invasive mechanical ventilation, with lung-protective strategies, targeted antibiotics, component therapy for DIC and early magnesium and calcium supplementation. Despite markedly elevated N-terminal pro-B-type natriuretic peptide with preserved biventricular function on echocardiography and transient acute kidney injury, she made a full clinical recovery and was discharged with normal oxygenation and functional status. This case underscores that delayed moderate ARDS with superimposed sepsis and DIC can complicate initially stable aluminium phosphide poisoning and highlights that meticulous, protocol-based supportive care can still result in survival in this rarely reported scenario.

#5

Impact of Intensive Cyclophosphamide-Containing Multi-Agent Bridging Therapy on Outcomes after Idecabtagene Vicleucel in Multiple Myeloma.

Transplantation and cellular therapy2026 Mar 04

Bridging therapy (BT) is frequently required during manufacturing of B-cell maturation antigen-directed chimeric antigen receptor T-cell (CAR-T) therapy in relapsed/refractory multiple myeloma. In patients with aggressive disease, intensive cyclophosphamide-containing multi-agent chemotherapy may be selected; however, its post-CAR-T impact remains uncertain, partly due to potential confounding by indication. To evaluate the impact of intensive cyclophosphamide-containing multi-agent BT on clinical outcomes after idecabtagene vicleucel infusion in a real-world setting. We conducted a retrospective single-center cohort study of patients with relapsed or refractory multiple myeloma (RRMM) who received ide-cel between November 2022 and December 2025. Intensive BT was defined as VTD-PACE or DCEP (cyclophosphamide-containing multi-agent chemotherapy) and analyzed by the number of cycles (0/1/2). Progression-free survival (PFS) was estimated using Kaplan-Meier methods and compared with log-rank tests; multivariable Cox models were used to adjust for baseline disease aggressiveness. Hematologic recovery and grade ≥3 infections were evaluated using cumulative incidence methods with competing risks. Cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS) were graded per the American Society for Transplantation and Cellular Therapy consensus grading. Among 94 patients (median follow-up, 12.5 mo by the reverse Kaplan-Meier methods), patients receiving intensive BT more frequently had aggressive disease at leukapheresis. The overall response rate (≥partial response) to BT was 75.5% and did not differ by cycle group (P = .32). Median PFS differed by cycle group in univariable analysis (P = .045), but intensive BT was not independently associated with inferior PFS after adjustment (hazard ratio [HR] 1.68, 95% confidence interval [CI] 0.45 to 6.24; P = .44). The second revision of International Staging System assessed at the time of leukapheresis remained independently associated with PFS (HR 2.30, 95% CI 1.06 to 4.98; P = .035). CRS occurred in 95.7% (grade ≥3, 2.1%) and ICANS in 5.3% (grade ≥3, 1.1%), with no difference by bridging intensity (P = .86 and P = .60, respectively). Intensive BT was associated with delayed platelet recovery >100 × 10⁹/L (P = .0096) and delayed neutrophil recovery >1.0 × 10⁹/L (P = .031). Grade ≥3 infections were similar across cycle groups (P = .29), including grade ≥3 viral infections (P = .12). Intensive cyclophosphamide-containing multi-agent BT (VTD-PACE/DCEP) was associated with delayed hematologic recovery but was not independently associated with inferior PFS after ide-cel when accounting for baseline disease aggressiveness. These findings suggest that intensive bridging may be considered for selected patients with aggressive RRMM requiring effective disease control prior to ide-cel infusion, with no statistically significant increase in CRS or ICANS.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Intractable dialysis-associated headache: a management dilemma in pediatric hemodialysis.

Pediatric nephrology (Berlin, Germany)
2026

When Foot Drop Tells a Bigger Story: POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Plasma Cell Disorder, and Skin Changes) Syndrome Revealed by Femoral Plasmacytoma.

Cureus
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Late reconstruction of missed compartment syndrome after tibial plateau fixation surgery: A case report with 6 years of follow-up.

Orthopedic reviews
2026

The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

The American journal of pathology
2026

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Genetics in medicine : official journal of the American College of Medical Genetics
2026

Body Under Attack: Disseminated Varicella-Zoster Virus Infection.

Cureus
2026

Delayed fatal neurotoxicity in post CAR-T cell therapy for multiple myeloma, a case report.

Leukemia research reports
2026

Extreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges.

JACC. Case reports
2026

Case Report: Expanded dengue syndrome with acute pancreatitis and pericardial effusion in octogenarians, from recovery to fatal shock.

Frontiers in medicine
2026

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

European journal of neurology
2026

A Rare Cause of Neck Swelling: A Case Report and Review of Primary Pyomyositis of the Sternocleidomastoid.

Cureus
2026

Aicardi-Goutières Syndrome: Insights from a Middle Eastern Case Series.

AJNR. American journal of neuroradiology
2026

Acute post-infusion hypokalemia following rituximab therapy in patients with nephrotic syndrome: case series and literature review.

Frontiers in pharmacology
2026

Paraneoplastic Arthritis Mimicking Late-Onset Rheumatoid Arthritis in an Older Smoker: A Diagnostic Challenge.

Cureus
2026

Advances in the immunosuppression of porcine reproductive and respiratory syndrome virus.

Frontiers in veterinary science
2026

Towards Ending HIV/AIDS by 2030: Trajectory of Sub-Saharan Africa-A Post-COVID-19 (2019-2024) Review.

Reviews in medical virology
2026

Bardet-Biedl syndrome in two sibling pairs: a case series.

Journal of medical case reports
2026

Treatment of Feline Lung-Digit Syndrome with Toceranib Phosphate: Prolonged Survival and Novel Metastatic Findings.

Animals : an open access journal from MDPI
2026

A Diagnostic Pitfall: Carbamazepine-Induced Drug Reaction With Eosinophilia and Systemic Symptoms (DRESS) Syndrome Masquerading As Angiotensin-Converting Enzyme Inhibitor Angioedema.

Cureus
2026

Postoperative Functional Recovery After Carpal Tunnel Release: A Narrative Review on Exercise-Based Rehabilitation.

Cureus
2026

Expanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient.

Cureus
2026

[Medium- and long-term clinical efficacy of Jianpi Huogu (Kanggu) Formula in treatment of early-stage femoral head necrosis].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

Genotype-Guided Risk Stratification of Mitral Valve Surgery in Marfan Syndrome.

Journal of the American College of Cardiology
2026

Transforaminal endoscopic discectomy with temporary percutaneous pedicle screw fixation as a fusion-sparing approach for giant recurrent L4/5 disc herniation and iatrogenic pars fracture in a young female: a case report.

Journal of spine surgery (Hong Kong)
2026

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

Sultan Qaboos University medical journal
2026

Olfactory Groove Meningioma Presenting With Visual Decline and Gait Disturbance: A Case Report.

Cureus
2026

Rethinking Thiamine in the Emergency Department: Why a Hi-Phy-Vi-Based "Suspect and Treat" Approach Matters in an Aging Society.

Cureus
2026

Sex-Specific Associations Between Depression and Cardiovascular-Kidney-Metabolic Syndrome Progression: A National Cohort Study.

European journal of preventive cardiology
2026

Adult-Onset Diabetes and Liver Fibrosis as Diagnostic Clues to Alström Syndrome: A Case Report.

Cureus
2026

Endovascular Revascularization Followed by Isolated Popliteal Artery Decompression for Popliteal Artery Entrapment Syndrome: A Multicenter Retrospective Comparative Study.

Annals of vascular surgery
2026

BMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.

American journal of medical genetics. Part A
2026

Delayed acute respiratory distress syndrome and sepsis-associated disseminated intravascular coagulation following aluminium phosphide poisoning.

BMJ case reports
2026

Impact of Intensive Cyclophosphamide-Containing Multi-Agent Bridging Therapy on Outcomes after Idecabtagene Vicleucel in Multiple Myeloma.

Transplantation and cellular therapy
2026

Rapidly progressive varicella zoster virus vasculopathy in a chemotherapy- and steroid-immunosuppressed patient with refractory diffuse large B-cell lymphoma: diagnostic and therapeutic challenges.

Blood research
2026

[Postthrombotic syndrome: an update].

Dermatologie (Heidelberg, Germany)
2026

Cauda equina syndrome caused by intradural migration of a bullet: A rare case presentation.

Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma &amp; emergency surgery : TJTES
2026

Case Report: A patient with metastatic fumarate hydratase-deficient renal cell carcinoma associated with leiomyomatosis: real-world clinical insights on systemic therapy and liver-directed SBRT.

Frontiers in oncology
2026

The role of PYY in improving insulin resistance.

Frontiers in endocrinology
2026

[Features of premorbid status in patients with Rett syndrome].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2026

Study on the anti-pulmonary fibrosis mechanism of Renshen Pingfei formula by inhibiting M2 macrophage polarization and regulating TGF - β/SMAD signaling pathway.

Journal of ethnopharmacology
2026

Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2026

Appendico-Ileal Knotting (Appendiceal Tourniquet Syndrome): A Systematic Review and Clinicopathological Classification.

Cureus
2026

Missed Autoimmune Diabetes: Latent Autoimmune Diabetes in Adults in the Setting of Autoimmune Clustering.

Cureus
2026

Non-ICANS neurotoxicities CD19-directed CAR T-cell therapy and the emergence of movement and neurocognitive treatment-emergent adverse events: a case report.

Frontiers in immunology
2026

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Archivos espanoles de urologia
2026

Bilateral Diffuse Uveal Melanocytic Proliferation Masquerading as Refractory Subretinal Fluid Due to Peripapillary Pachychoroid Syndrome.

Cureus
2026

Responding to a protracted tuberculosis outbreak: lessons from multiple rounds of investigation in a Chinese boarding school.

Annals of medicine
2026

Ovarian Vein Syndrome Presenting as Recurrent Right-Sided Flank Pain: A Case Report.

Cureus
2026

Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms.

Clinical case reports
2026

[Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2026

Diagnostic value of repeat deep sampling and cytocentrifugation in disseminated nocardiosis due to Nocardia brasiliensis with intramuscular and prostatic abscesses in a patient with myelodysplastic syndrome.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy
2026

Atypical operative sequence in Barnard's syndrome: managing gallstone ileus after biliary reconstruction.

BMJ case reports
2026

Medulloblastoma masquerading as tuberculous meningitis in a pediatric patient.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

A Novel ATXN7L3 De Novo Variant Underlies Harel-Tora Neurodevelopmental Syndrome (HATONS) With Pre-Axial Polydactyly.

Clinical genetics
2026

[MRI in neurodegenerative Parkinsonian syndromes].

Radiologie (Heidelberg, Germany)
2026

Early pacing in a child with Lodder-Merla syndrome and progressive sinus node dysfunction: a case report.

European heart journal. Case reports
2026

In-Stent Restenosis Pathophysiology and Risk Factors: A Comprehensive Review.

Medicina (Kaunas, Lithuania)
2026

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

International journal of molecular sciences
2026

Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.

Brain sciences
2026

Association of Cardiovascular-Kidney-Syndrome and Brain Macrostructure and Microstructure Injury: A Prospective Cohort Study.

Diabetes, obesity &amp; metabolism
2026

[Effects of thumbtack needle therapy for Yangxin Shengyang on ocular blood flow parameters in treatment of low myopia in children with heart yang insufficiency].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2026

Delayed diagnosis of recurrent embolic strokes from cardiac myxoma coexisting with antiphospholipid syndrome presenting as progressive cognitive decline.

BMJ case reports
2026

Gas Bloat Syndrome after Nissen Fundoplication: Association with Anatomical Failure and Revisional Operation.

Journal of the American College of Surgeons
2026

Mesenchymal Tumor of the Hand Causing Tumor-Induced Osteomalacia.

Cureus
2026

Primary Pulmonary Paraganglioma: A Rare Clinical Entity.

Cureus
2026

Effects of anti-RANKL, Zoledronate or combination therapy in a mouse model of fibrous dysplasia: a preclinical study.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2026

Congenital Amegakaryocytic Thrombocytopenia Presenting With Features of Immune Thrombocytopenia: A Case Report.

Cureus
2026

Incidence and Survival Rates of Frontotemporal Lobar Degeneration: Population-Based Registry Study.

Neurology
2026

Unmasking Wilson's Disease Through Severe Psychiatric Manifestations: A Case Report.

Cureus
2026

Immunoglobulin Light Chain Amyloidosis: 2026 Update on Diagnosis, Prognosis, and Treatment.

American journal of hematology
2026

Fifteen-Year ECG Evolution of Interatrial Block and Effects of Atrial Septal Pacing.

JACC. Case reports
2026

Telomere recapping via gene therapy as a beneficial strategy for cardio-renal syndrome type 4.

Kidney international
2026

Pregnancy-Related Vascular Outcomes in Loeys-Dietz Syndrome: A Retrospective Cohort Study and Case Series.

Medical sciences (Basel, Switzerland)
2026

Behind the Swelling: Primary Mediastinal Large B-cell Lymphoma Masquerading as an Infection.

Cureus
2026

Orthopedic manifestations and management of nail-patella syndrome: a narrative review.

Frontiers in pediatrics
2026

Posterior Fossa Sinking Skin Flap Syndrome Presenting With Orthostatic Vertigo After Decompressive Craniectomy: A Case Report.

Cureus
2026

Osmotic demyelination syndrome after liver transplantation: A case report and an updated review.

Saudi journal of anaesthesia
2026

An Atypical Presentation of Morel-Lavallée Syndrome Following Blunt Trauma.

Cureus
2026

Clinical outcomes of patients with lower risk myelodysplastic syndrome from EUMDS registry eligible for transplantation: Implications for transplantation strategies.

British journal of haematology
2026

The Alpha-Gal Syndrome and Hypersensitivity to Biomaterials: Understanding Xenoimmunity.

Cardiology in review
2026

Herpetic ocular infections in solid organ transplantation: A narrative review.

Transplantation reviews (Orlando, Fla.)
2026

Hidden overlap between heart failure with preserved ejection fraction and transthyretin amyloid cardiomyopathy: Why it matters and how to avoid missing it.

International journal of cardiology
2026

Successful treatment of gastrobronchial fistula following laparoscopic sleeve gastrectomy: A case report and review of literature.

World journal of gastrointestinal surgery
2026

Preventing Cushing Syndrome: Adrenalectomy in PDE11A-Positive Primary Pigmented Nodular Adrenocortical Disease.

JCEM case reports
2026

POEMS syndrome with cardiovascular lesions as the initial manifestation: a case report and literature review.

Frontiers in cardiovascular medicine
2026

A Case of Human Immunodeficiency Virus (HIV) Infection Leading to Acquired Immunodeficiency Syndrome (AIDS)-Related Pneumocystis Pneumonia.

Cureus
2026

Development of an Acute Intracranial Hypertension-Induced Rat Model for Terson Syndrome and Mechanisms of Blood-Retinal Barrier Breakdown.

Current eye research
2026

Nimesulide-Associated Generalized Bullous Fixed Drug Eruption: A Rare Pharmacovigilance Case Report.

Cureus
2026

Ocular ischemic syndrome secondary to carotid artery disease: a comprehensive review addressing critical early detection, management, and education.

Frontiers in ophthalmology
2026

Preserved Ejection, Lost Rhythm: A Narrative Review of the Pathophysiology and Management of Heart Failure with Preserved Ejection Fraction and Concomitant Atrial Fibrillation.

Journal of clinical medicine
2026

Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.

American journal of medical genetics. Part C, Seminars in medical genetics
2026

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Frontiers in immunology
2026

Neuromyelitis optica spectrum disorder in an 11-year-old: a case report in a pediatric patient from Nepal.

Annals of medicine and surgery (2012)
2026

Matrix Metalloproteinase‑9 (MMP-9) Activatable Gold Nanoparticles for In Situ Zymography and Diagnostics of Neurofibromatosis Type 2 (NF2) Tumors.

ACS applied nano materials
2026

The Sinus Snare: A Case Series of Isolated Sphenoid Sinusitis Presenting as Orbital Apex Syndrome in Poorly Controlled Diabetes.

Cureus
2026

Emergency Department-Initiated Buprenorphine for Opioid Use Disorder: A Randomized Clinical Trial.

JAMA
2025

Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.

Molecular syndromology
2026

Vibrio vulnificus infection caused by a hand puncture wound from seafood: a case report.

Frontiers in medicine
2026

A Pediatric Case of Stiff-Person Syndrome: Presentation and Comparative Analysis.

Journal of orthopaedic case reports
2026

Symptomatic Ventromedial Scapular Osteochondroma Presenting with Restriction of Shoulder Movements: A Case Report.

Journal of orthopaedic case reports
2026

Renin-angiotensin system activation and oxidative stress in hospitalized COVID-19 patients: a single-centre prospective observational study.

Intensive care medicine experimental
2026

Protease-activated receptors act as a liaison between metabolism and inflammation.

Inflammopharmacology
2026

Chronic Tonsillitis as a Focal Infection: A Decade-Long Case Involving Severe Systemic Symptoms.

Cureus
2026

Rapid Eye Movement (REM) Sleep Behaviour Disorder in Moebius Syndrome: A Rare Pediatric Case.

Cureus
2026

Tumor-induced osteomalacia caused by phosphaturic mesenchymal tumor in the thoracic spine: an uncommon site.

Journal of diabetes and metabolic disorders
2026

mRNA Therapy for Alport Syndrome.

bioRxiv : the preprint server for biology
2026

A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.

Cureus
2026

Bardet-Biedl Syndrome in Four Siblings: Clinical and Genetic Insights From a Rare Familial Cluster.

AACE endocrinology and diabetes
2026

Two Frontlines, One Diagnosis: Family Medicine-Neurology Collaboration Enables Early Recognition and Treatment of Acute Inflammatory Demyelinating Polyneuropathy in a Diabetic Patient.

Cureus
2026

Necrotizing Soft Tissue Infection at a Self-Administered Subcutaneous Etanercept Injection Site in an Immunosuppressed Patient With Rheumatoid Arthritis: A Case Report.

Cureus
2025

Alteration of hippocampal parvalbumin interneurons underlies memory impairment in rat model of Parkinson's disease.

Frontiers in behavioral neuroscience
2026

AMCP Market Insights: The role of managed care in improving patient care in mucopolysaccharidoses.

Journal of managed care &amp; specialty pharmacy
2025

Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL.

The Turkish journal of pediatrics
2026

Efficacy differences between tocilizumab and ketogenic diet during acute phase of febrile Infection-Related epilepsy syndrome in children: A retrospective cohort study.

Epilepsy &amp; behavior : E&amp;B
2026

MRI as a key tool in presumptive antemortem diagnosis of rabies: A case report.

Radiology case reports
2025

Hashimoto's encephalopathy presenting with manic and psychotic features in a 13-year-old girl: a case report.

Frontiers in psychiatry
2025

Bobble-head doll syndrome secondary to a giant posterior fossa arachnoid cyst: A rare case report.

Surgical neurology international
2025

Case Report: Murine typhus complicated by symmetrical peripheral gangrene: first report and diagnostic insights from metagenomic next-generation sequencing.

Frontiers in immunology
2025

The mechanism of secreted frizzled-related protein 1 in alleviating cardiomyocyte injury and heart failure.

Frontiers in cardiovascular medicine
2026

A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.

BMC neurology
2026

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.

Experimental &amp; molecular medicine
2025

Infantile Epsilon-Sarcoglycan (SGCE) Myoclonus-Dystonia: Diagnostic Pitfalls and Poor Response to Pharmacologic Treatment.

Cureus
2026

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Late-onset anti-Yo antibody-positive paraneoplastic cerebellar degeneration: a case report.

Frontiers in surgery
2025

Case Report: Postmenopausal hyperandrogenism misled by adrenal incidentaloma: a rare case of androgen-secreting ovarian adult granulosa cell tumor and clinical implications.

Frontiers in oncology
2026

Olfactory Dysfunction and Cognitive Deterioration in Long COVID: Pathomechanisms and Clinical Implications in Development of Alzheimer's Disease.

Cells
2026

Obesity Hypoventilation Syndrome in Children and Adolescents.

Children (Basel, Switzerland)
2026

Efficacy and Safety of HAIC Combined with PD-(L)1 Inhibitors and Bevacizumab Versus HAIC with PD-(L)1 Inhibitors and TKIs in Advanced Hepatocellular Carcinoma: A Retrospective Cohort Study.

Cancers
2026

Fibroblast growth factor 23-induced hypophosphatemia in a malignant phosphaturic mesenchymal tumor: presentation of a rare case.

Clinical biochemistry
2026

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Acta diabetologica
2026

Metformin Beyond Glycemic Control: Cardiovascular Protection and Diabetes Prevention.

Journal of cardiovascular development and disease
2025

A Diagnostic Delay: Respiratory Muscle Weakness in Dermatomyositis Masquerading as Pneumonia.

Cureus
2025

Delayed Clinical Diagnosis of Alström Syndrome in a Resource-Limited Setting: A Case Report From Rural Pakistan.

Cureus
2026

Nobiletin Ameliorated the Development of Diabetic Kidney Disease via Modulating Ferroptosis and Epithelial-Mesenchymal Transition Involving Gut-Kidney Axis.

The American journal of Chinese medicine
2026

Postoperative adrenal crisis and atrial tachycardia associated with an ectopic ACTH-secreting thymic neuroendocrine tumor: a case report and literature review.

BMC endocrine disorders
2026

Delphi consensus: First-line use of biologics and small molecules in hidradenitis suppurativa.

Journal of the European Academy of Dermatology and Venereology : JEADV
2026

Interventional studies targeting the prodromal or preclinical phase of immune-mediated disease to benefit patient outcomes: a scoping review.

Journal of autoimmunity
2026

Salvaging sepsis-associated atypical hemolytic uremic syndrome with terminal complement blockade: A case report.

Medicine
2026

Foster Care Status and the Timing of Diagnosis of Fetal Alcohol Syndrome in a Medicaid Sample.

Public health reports (Washington, D.C. : 1974)
2025

Lemierre's Syndrome Complicated by Descending Mediastinitis.

Cureus
2026

Mirizzi Syndrome With a Hepatic Duct Confluence Fistula and Stone Migration Into the Left Hepatic Duct: A Case Report.

Cureus
2026

Unmasking Mycobacterium avium: two case reports of cutaneous lesions in HIV patients after initiation of an integrase inhibitor-based regimen.

BMC infectious diseases
2025

Case Report: POEMS syndrome secondary to multiple solitary plasmacytomas complicated by hypertriglyceridemia.

Frontiers in medicine
2026

Mauriac Syndrome: Growth and Clinical Outcomes After 2.5 Years of Automated Insulin Delivery Treatment.

JCEM case reports
2026

Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.

Medicine
2026

Identification of peripheral pain generators with sigma-1 receptor Positron Emission Tomography/Magnetic Resonance Imaging in complex regional pain syndrome: initial study in a prospective trial.

Pain
2026

Coincidence of autosomal dominant polycystic kidney disease and Alport syndrome: a case report and literature review.

CEN case reports
2026

Long-term benefit of GPi-DBS in YY1-related dystonia: a case report.

Acta neurologica Belgica
2026

STAT3 gain-of-function mutation presenting with adult-onset recurrent abdominal pain, fever and lymphadenopathy, managed by JAK inhibitor therapy.

BMJ case reports
2026

Effects of <sc>n</sc>-Acetyl-<sc>l</sc>-Cysteine on the Progression of Kidney Dysfunction in Acadian Variant Fanconi Syndrome: A Case Series.

Nephron
2026

GPR81 Activation by Lactate Delays Inflammation Resolution in Acute Lung Injury.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

Early capecitabine metronomic chemotherapy improves patient prognosis and safety in early-stage triple-negative breast cancer.

American journal of translational research
2026

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

Central nervous symptoms as the prominent manifestation of Sjögren's disease (SjD): a case report.

BMC neurology
2025

Multiple Endocrine Neoplasia Type 1 Presenting as Recurrent Overt Gastrointestinal Bleeding and Ulceration: A Diagnostic Challenge.

Cureus
2025

Multiple Pregnancy (Quintuplets) and Treatment Considerations for Critical Ovarian Hyperstimulation Syndrome.

Cureus
2025

The Fat-Pancreas Axis: A Narrative Review Unraveling the Role of Obesity in Pancreatic Diseases.

Cureus
2025

Estrogen Receptor-Low Breast Cancer With Sternal Metastasis Presenting as "Stiff Neck" in a Young Female.

Cureus
2026

Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.

Documenta ophthalmologica. Advances in ophthalmology
2026

Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation.

Genome research
2026

Platypnoea-orthodeoxia from kyphoscoliosis and diaphragmatic dysfunction without intracardiac shunt on transthoracic echocardiography.

BMJ case reports
2026

Severe community-acquired pneumonia: current concepts and controversies.

Intensive care medicine
2025

Incomplete Vogt-Koyanagi-Harada Syndrome Presenting With Sunset Glow Fundus, Vitiligo, Preserved Vision, and Incidental CA 19-9 Elevation.

Cureus
2026

Delayed Diagnosis of Sézary Syndrome: Lessons From a Psoriasiform Presentation.

Clinical case reports
2026

Beyond Raynaud's: Atypical Peripheral Vascular Manifestations in a Case of CREST Syndrome.

Clinical case reports
2025

EIT-guided chest physiotherapy for airway clearance during awake prone ventilation in ARDS: a randomized controlled trial.

Journal of thoracic disease
2026

Abnormal plasma oxidative stress markers in first-episode schizophrenia and associations with clinical symptoms and cognitive function.

Schizophrenia (Heidelberg, Germany)
2026

Postural Orthostatic Tachycardia Syndrome: A State-of-the-Art Review.

Heart, lung &amp; circulation
2026

MicroRNAs in fetal alcohol spectrum disorders: A systematic review of prenatal exposure and molecular targets.

Reproductive toxicology (Elmsford, N.Y.)
2025

Multiomic Analyses Reveal Brainstem Metabolic Changes in a Mouse Model of Dravet Syndrome.

Cells
2026

Digital twin frameworks for polio and post-polio neurodegeneration: Toward predictive, personalised lifelong neuro-rehabilitation.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

Relative Frequency and Distinctive Features of Anti-Ma2 Nonparaneoplastic Neurologic Disorders: A French Cohort Study.

Neurology(R) neuroimmunology &amp; neuroinflammation
2026

What Is in a Label? The Importance of Clinical Specificity and Challenges of Diagnostic Evolution in Progressive Speech-Language Disorders.

American journal of speech-language pathology
2025

A Case of VEXAS Syndrome.

WMJ : official publication of the State Medical Society of Wisconsin
2025

PAPASH Syndrome: A Case Report and Lessons for Clinical Practice.

WMJ : official publication of the State Medical Society of Wisconsin
2026

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

CEN case reports
2026

Review of early development in children with Down syndrome: family and clinician partnership.

BMJ paediatrics open
2026

The spectrum of movement disorders in neurosyphilis: A systematic review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2026

History before diagnosis in adult-onset craniopharyngioma: associations with initial presentation and long-term prognosis: a retrospective cohort study of 151 patients.

Journal of endocrinological investigation
2025

Severe Hepatic Enzyme Elevation and Coagulation Abnormalities in a Pregnant Woman With Recent COVID-19 Infection and Preterm Premature Rupture of Membranes: A Case Report.

Cureus
2026

Bladder tumors in patients initially diagnosed with interstitial cystitis: a ten-year retrospective study.

International urology and nephrology
2025

Interstitial lung disease in Sjögren's disease: the portrait of a national cohort.

ARP rheumatology
2025

Hypokalemic metabolic alkalosis as a clinical clue to ectopic ACTH syndrome: two cases of neuroendocrine carcinoma.

Endocrine regulations
2025

Practical insights for the clinical implementation of the EULAR recommendations for patients with systemic lupus erythematosus.

RMD open
2026

A Whiff of Garlic, a Turn of Fate: Recognizing Organophosphorus Poisoning Amid Diagnostic Uncertainty: A Case Report.

Clinical case reports
2025

Hemophagocytic Lymphohistiocytosis (HLH) or Macrophage Activation Syndrome (MAS)? A Lethal Case of Malignancy-Associated Hemophagocytic Lymphohistiocytosis in a Patient With Concurrent Autoimmune Disease.

Cureus
2025

Renal Autotransplantation After Yang-Monti Neoureter Procedure: Surgical Case Report and Brief Literature Review.

Case reports in urology
2026

Frequency of CCR5-Δ32, CCR2-64I, and SDF1-3'A Mutations in People with HIV Diagnoses and HIV Negative Participant in Khuzestan Province, Iran.

AIDS research and human retroviruses
2026

Novel, Rotatory Vestibular Stimulation for Contralesional Lateropulsion in Acute Hemispheric Stroke: A Randomised Feasibility Pilot Study and Kinematic Reliability Evaluation.

Physiotherapy research international : the journal for researchers and clinicians in physical therapy
2025

Fever of unknown origin, muscle weakness, and an adrenal nodule-the cat we chased like a hare: a case report.

Journal of medical case reports
2025

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Life (Basel, Switzerland)
2025

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

Genes
2025

A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.

Genes
2025

Beyond the Diagnosis: A Journey of an 8-Year-Old Girl with Patau Syndrome: Case Report.

Children (Basel, Switzerland)
2025

Clinical outcomes of giant coronary aneurysms in South Asian children with Kawasaki disease.

Pediatric rheumatology online journal
2025

Focussing on appetite decline to optimise management of undernutrition in later life: a geriatric medicine perspective.

The Proceedings of the Nutrition Society
2025

Management of Severe Riga-Fede Disease in a Child With MIRAGE Syndrome.

Cureus
2025

Metabolic biomarkers for predicting onset and severity of CAR-T therapy-induced cytokine release syndrome in multiple myeloma.

Frontiers of medicine
2025

Assessing t(6;11)(q27;q23) and Tetrasomy 21 in Down Syndrome Patient: Cytogenetic Implications in Acute Myeloid Leukemia Pathogenesis.

Journal of the Association of Genetic Technologists
2025

Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.

Journal of mother and child

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.
    Genetics in medicine : official journal of the American College of Medical Genetics· 2026· PMID 41860019mais citado
  2. Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
    European journal of neurology· 2026· PMID 41841518mais citado
  3. Advances in the immunosuppression of porcine reproductive and respiratory syndrome virus.
    Frontiers in veterinary science· 2026· PMID 41834883mais citado
  4. Delayed acute respiratory distress syndrome and sepsis-associated disseminated intravascular coagulation following aluminium phosphide poisoning.
    BMJ case reports· 2026· PMID 41791773mais citado
  5. Impact of Intensive Cyclophosphamide-Containing Multi-Agent Bridging Therapy on Outcomes after Idecabtagene Vicleucel in Multiple Myeloma.
    Transplantation and cellular therapy· 2026· PMID 41791576mais citado
  6. Platypnoea-orthodeoxia from kyphoscoliosis and diaphragmatic dysfunction without intracardiac shunt on transthoracic echocardiography.
    BMJ Case Rep· 2026· PMID 41526065recente
  7. The Grisel Syndrome: early interdisciplinary treatment needed to prevent severe upper cervical deformity - Experience from a high-volume spine center and systematic review of existing literature.
    Int J Pediatr Otorhinolaryngol· 2026· PMID 41319456recente
  8. Subtle Manifestation of Lower Cavernous Sinus Syndrome as the Initial and Sole Presentation of Pterygopalatine Squamous Cell Carcinoma Invasion from the Skull Base: A Case Report.
    Acta Neurol Taiwan· 2025· PMID 41020464recente
  9. Cannabis Hyperemesis Syndrome in Youth: Clinical Insights and Public Health Implications.
    Int J Environ Res Public Health· 2025· PMID 40283856recente
  10. Shared Decision-Making in Food Protein-Induced Enterocolitis Syndrome.
    J Allergy Clin Immunol Pract· 2025· PMID 40090482recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:477814(Orphanet)
  2. OMIM OMIM:616632(OMIM)
  3. MONDO:0014714(MONDO)
  4. GARD:17858(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55784951(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome de microcefalia progressiva-convulsões-cegueira cortical-transtorno do desenvolvimento
Compêndio · Raras BR

Síndrome de microcefalia progressiva-convulsões-cegueira cortical-transtorno do desenvolvimento

ORPHA:477814 · MONDO:0014714
Prevalência
<1 / 1 000 000
Casos
9 casos conhecidos
Herança
Autosomal recessive
CID-10
Q02 · Microcefalia
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4225261
Repurposing
21 candidatos
beclamideanticonvulsant
carbamazepinecarboxamide antiepileptic
eslicarbazepine-acetatesodium channel blocker
+17 outros
Wikidata
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