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.
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
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
Cell membraneCell projection, ruffle membraneCytoplasm, cytoskeletonCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindleCytoplasmNucleus
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.
Variantes genéticas (ClinVar)
189 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,605 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
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
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
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
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
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
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
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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Impact of Intensive Cyclophosphamide-Containing Multi-Agent Bridging Therapy on Outcomes after Idecabtagene Vicleucel in Multiple Myeloma.
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.
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Epilepsy & behavior : E&BMRI as a key tool in presumptive antemortem diagnosis of rabies: A case report.
Radiology case reportsHashimoto's encephalopathy presenting with manic and psychotic features in a 13-year-old girl: a case report.
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Surgical neurology internationalCase Report: Murine typhus complicated by symmetrical peripheral gangrene: first report and diagnostic insights from metagenomic next-generation sequencing.
Frontiers in immunologyThe mechanism of secreted frizzled-related protein 1 in alleviating cardiomyocyte injury and heart failure.
Frontiers in cardiovascular medicineA novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.
BMC neurologyProgressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.
Experimental & molecular medicineInfantile Epsilon-Sarcoglycan (SGCE) Myoclonus-Dystonia: Diagnostic Pitfalls and Poor Response to Pharmacologic Treatment.
CureusMeier-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 & metabolism : JPEMLate-onset anti-Yo antibody-positive paraneoplastic cerebellar degeneration: a case report.
Frontiers in surgeryCase Report: Postmenopausal hyperandrogenism misled by adrenal incidentaloma: a rare case of androgen-secreting ovarian adult granulosa cell tumor and clinical implications.
Frontiers in oncologyOlfactory Dysfunction and Cognitive Deterioration in Long COVID: Pathomechanisms and Clinical Implications in Development of Alzheimer's Disease.
CellsObesity Hypoventilation Syndrome in Children and Adolescents.
Children (Basel, Switzerland)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.
CancersFibroblast growth factor 23-induced hypophosphatemia in a malignant phosphaturic mesenchymal tumor: presentation of a rare case.
Clinical biochemistryCohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.
Acta diabetologicaMetformin Beyond Glycemic Control: Cardiovascular Protection and Diabetes Prevention.
Journal of cardiovascular development and diseaseA Diagnostic Delay: Respiratory Muscle Weakness in Dermatomyositis Masquerading as Pneumonia.
CureusDelayed Clinical Diagnosis of Alström Syndrome in a Resource-Limited Setting: A Case Report From Rural Pakistan.
CureusNobiletin Ameliorated the Development of Diabetic Kidney Disease via Modulating Ferroptosis and Epithelial-Mesenchymal Transition Involving Gut-Kidney Axis.
The American journal of Chinese medicinePostoperative adrenal crisis and atrial tachycardia associated with an ectopic ACTH-secreting thymic neuroendocrine tumor: a case report and literature review.
BMC endocrine disordersDelphi consensus: First-line use of biologics and small molecules in hidradenitis suppurativa.
Journal of the European Academy of Dermatology and Venereology : JEADVInterventional studies targeting the prodromal or preclinical phase of immune-mediated disease to benefit patient outcomes: a scoping review.
Journal of autoimmunitySalvaging sepsis-associated atypical hemolytic uremic syndrome with terminal complement blockade: A case report.
MedicineFoster Care Status and the Timing of Diagnosis of Fetal Alcohol Syndrome in a Medicaid Sample.
Public health reports (Washington, D.C. : 1974)Lemierre's Syndrome Complicated by Descending Mediastinitis.
CureusMirizzi Syndrome With a Hepatic Duct Confluence Fistula and Stone Migration Into the Left Hepatic Duct: A Case Report.
CureusUnmasking Mycobacterium avium: two case reports of cutaneous lesions in HIV patients after initiation of an integrase inhibitor-based regimen.
BMC infectious diseasesCase Report: POEMS syndrome secondary to multiple solitary plasmacytomas complicated by hypertriglyceridemia.
Frontiers in medicineMauriac Syndrome: Growth and Clinical Outcomes After 2.5 Years of Automated Insulin Delivery Treatment.
JCEM case reportsAllgrove syndrome with early neurodegeneration in a child: A case report from Syria.
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PainCoincidence of autosomal dominant polycystic kidney disease and Alport syndrome: a case report and literature review.
CEN case reportsLong-term benefit of GPi-DBS in YY1-related dystonia: a case report.
Acta neurologica BelgicaSTAT3 gain-of-function mutation presenting with adult-onset recurrent abdominal pain, fever and lymphadenopathy, managed by JAK inhibitor therapy.
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American journal of translational researchDyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.
Journal of pediatric endocrinology & metabolism : JPEMCentral nervous symptoms as the prominent manifestation of Sjögren's disease (SjD): a case report.
BMC neurologyMultiple Endocrine Neoplasia Type 1 Presenting as Recurrent Overt Gastrointestinal Bleeding and Ulceration: A Diagnostic Challenge.
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Documenta ophthalmologica. Advances in ophthalmologyChromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation.
Genome researchPlatypnoea-orthodeoxia from kyphoscoliosis and diaphragmatic dysfunction without intracardiac shunt on transthoracic echocardiography.
BMJ case reportsSevere community-acquired pneumonia: current concepts and controversies.
Intensive care medicineIncomplete Vogt-Koyanagi-Harada Syndrome Presenting With Sunset Glow Fundus, Vitiligo, Preserved Vision, and Incidental CA 19-9 Elevation.
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Journal of thoracic diseaseAbnormal plasma oxidative stress markers in first-episode schizophrenia and associations with clinical symptoms and cognitive function.
Schizophrenia (Heidelberg, Germany)Postural Orthostatic Tachycardia Syndrome: A State-of-the-Art Review.
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WMJ : official publication of the State Medical Society of WisconsinDelayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.
CEN case reportsReview of early development in children with Down syndrome: family and clinician partnership.
BMJ paediatrics openThe spectrum of movement disorders in neurosyphilis: A systematic review.
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AIDS research and human retrovirusesNovel, Rotatory Vestibular Stimulation for Contralesional Lateropulsion in Acute Hemispheric Stroke: A Randomised Feasibility Pilot Study and Kinematic Reliability Evaluation.
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Frontiers of medicineAssessing 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 TechnologistsGenetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.
Journal of mother and childAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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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.
- 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
- Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
- Advances in the immunosuppression of porcine reproductive and respiratory syndrome virus.
- Delayed acute respiratory distress syndrome and sepsis-associated disseminated intravascular coagulation following aluminium phosphide poisoning.
- Impact of Intensive Cyclophosphamide-Containing Multi-Agent Bridging Therapy on Outcomes after Idecabtagene Vicleucel in Multiple Myeloma.
- Platypnoea-orthodeoxia from kyphoscoliosis and diaphragmatic dysfunction without intracardiac shunt on transthoracic echocardiography.
- 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.
- 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.
- Cannabis Hyperemesis Syndrome in Youth: Clinical Insights and Public Health Implications.
- Shared Decision-Making in Food Protein-Induced Enterocolitis Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:477814(Orphanet)
- OMIM OMIM:616632(OMIM)
- MONDO:0014714(MONDO)
- GARD:17858(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
