A Síndrome de Macrocefalia e Atraso no Desenvolvimento é uma condição rara que causa deficiência intelectual. Ela se caracteriza por ter a cabeça maior que o normal (macrocefalia), traços físicos levemente incomuns (como testa mais saltada, rosto alongado, pálpebras caídas com olhos pequenos e inclinados para baixo, a parte de cima do nariz mais larga e queixo proeminente), um atraso geral no desenvolvimento neurológico, alterações de comportamento (por exemplo, ansiedade e movimentos repetitivos) e crises epilépticas, que podem ser de "ausência" (quando a pessoa se desliga por um breve momento) ou convulsões generalizadas (tônico-clônicas). Além disso, alguns pacientes podem apresentar outras características, como o fechamento precoce das junções dos ossos do crânio (craniossinostose), o dedo mindinho curvado, pneumonias que voltam várias vezes e o aumento do fígado e do baço (hepatoesplenomegalia).
Introdução
O que você precisa saber de cara
A Síndrome de Macrocefalia e Atraso no Desenvolvimento é uma condição rara que causa deficiência intelectual. Ela se caracteriza por ter a cabeça maior que o normal (macrocefalia), traços físicos levemente incomuns (como testa mais saltada, rosto alongado, pálpebras caídas com olhos pequenos e inclinados para baixo, a parte de cima do nariz mais larga e queixo proeminente), um atraso geral no desenvolvimento neurológico, alterações de comportamento (por exemplo, ansiedade e movimentos repetitivos) e crises epilépticas, que podem ser de "ausência" (quando a pessoa se desliga por um breve momento) ou convulsões generalizadas (tônico-clônicas). Além disso, alguns pacientes podem apresentar outras características, como o fechamento precoce das junções dos ossos do crânio (craniossinostose), o dedo mindinho curvado, pneumonias que voltam várias vezes e o aumento do fígado e do baço (hepatoesplenomegalia).
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
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 42 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.
As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex
Lysosome membraneCell projection, lamellipodiumCell projection, stereocilium
Intellectual developmental disorder, autosomal recessive 41
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pervasive developmental disorder. Less common features include fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.
Variantes genéticas (ClinVar)
52 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 142 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
1 via biológica associada 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 macrocefalia-perturbação do desenvolvimento
Centros de Referência SUS
13 centros habilitados pelo SUS para Síndrome de macrocefalia-perturbação do desenvolvimento
Centros para Síndrome de macrocefalia-perturbação 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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Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
Post-Streptococcal glomerulonephritis (PSGN) most commonly follows streptococcal infections and presents with classic features such as hematuria, proteinuria, hypertension, and transient renal dysfunction. While renal-limited disease is typical, extrarenal manifestations-particularly serosal involvement-are exceptionally rare in children. We report a rare case of an adolescent who presented with nephritic syndrome marked by hypertension, gross hematuria, proteinuria, and notably, concurrent pleural and pericardial effusions. Laboratory evaluation revealed low serum complement levels (C3 and C4), consistent with immune complex-mediated glomerulonephritis. Extensive infectious and autoimmune workups were unremarkable. The patient was managed conservatively with antihypertensives and diuretics, with complete resolution of symptoms and normalization of renal function and complement levels within four weeks. To our knowledge, serosal involvement (pleural and pericardial effusions) at initial presentation in pediatric PSGN remains extremely rare, with very few documented cases in the literature. This report contributes valuable clinical insight, emphasizing that PSGN can occasionally mimic systemic inflammatory or autoimmune conditions. Early identification and conservative management can prevent overtreatment and improve outcomes. This case underscores an unusual presentation of PSGN with serosal involvement-a manifestation reported only sporadically in literature. Recognition of such rare systemic features is crucial to avoid diagnostic delays or unnecessary immunosuppression. Supportive care alone led to favorable outcomes, reinforcing the self-limited nature of PSGN even in atypical presentations. It serves as a valuable reminder that atypical PSGN can present with multi-system inflammation, and a precise diagnostic approach integrating serology and clinical course is essential to avoid unnecessary intervention.
Back pain in an adolescent: not just a sore spine!
Acute lymphoblastic leukaemia (ALL) can mimic diverse musculoskeletal conditions, often resulting in diagnostic delays. Genetic predisposition to various cancer syndromes further complicates the clinical picture, influencing disease presentation and treatment response. We report an adolescent boy who presented with a 2-month history of episodic fever, persistent low back pain and non-migratory joint pain, with a history of growth failure, developmental delay and seizures since childhood. There was a history of malignancy in multiple family members. The clinical examination revealed no features suggestive of systemic involvement. The joint examination revealed swelling around the knee joints. Initial work-up for chronic infections and autoimmune diseases was negative. Magnetic resonance imaging spine findings of multiple T2 hyperintense lesions warranted a bone marrow examination, which confirmed the diagnosis of Ph+ B- ALL. Molecular analysis revealed a pathogenic heterozygous missense variant in the TP53 gene, leading to the diagnosis of Li-Fraumeni syndrome. This case highlights the importance of recognizing musculoskeletal symptoms as a potential presentation of ALL. Early consideration of leukaemia in the differential diagnosis can prevent delays in treatment, ultimately improving outcomes.
Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.
Abnormal origin of a coronary artery is a rare congenital condition that can significantly affect clinical outcomes especially when associated with acute coronary syndromes. Among these, the presence of a single coronary artery trifurcating from the right coronary cusp into all major coronary branches is exceptionally rare and poorly represented in the literature. A 35-year-old man presented with an inferior ST-elevation myocardial infarction. Emergency angiography revealed a single coronary artery arising from the right coronary cusp. The culprit was the right coronary artery. It was effectively treated with intravascular-guided percutaneous coronary intervention, and the remaining coronaries demonstrated normal flow, as shown in subsequent imaging. The patient recovered uneventfully, rehabilitated without complications. He was discharged on guideline directed medical therapy. Although the anomalous coronary anatomy was not the direct cause of infarction, it introduced significant procedural challenges that could have delayed or compromised revascularization. Our case highlights the importance of recognizing and anticipating coronary anomalies in acute settings. Multimodality imaging and anatomical classification systems help provide timely diagnosis, procedural planning, and risk assessment from a long-term perspective.
Second allogeneic stem cell transplantation for XMEN disease.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) disease is due to an inherited defect in immunity from loss-of-function mutations in the magnesium transporter 1 gene (MAGT1). Patients can present as adults with XMEN disease from a delayed diagnosis or lack of genetic diagnosis. Allogeneic stem-cell transplantation is curative in XMEN disease, but the mortality is high, especially in adults. Defective N-glycosylation of platelet glycoproteins impairs platelet aggregation and risks fatal mucosal haemorrhage (such as posterior epistaxis with airway obstruction and haemorrhagic shock requiring intubation) early during post-transplant aplasia. Maintaining a platelet level of at least 30×109/L until engraftment could avoid life-threatening haemorrhage. This is the first report of a successful second allogeneic stem-cell transplant in XMEN disease. Allogeneic stem-cell transplant in adults with XMEN disease should be considered as a curative option in patients with suitable donors.
Time to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.
Trophic feeding generally refers to providing small quantities of enteral feeding soon after birth. A study in Ethiopia highlighted substantial delays in starting therapeutic feeding (TF) for newborns. While guidelines recommend initiating TF within 24 hours of birth, an alarming 80-90% of infants did not begin feeding within 48 hours. Only 20% started TF within the advised timeframe. Furthermore, 29% of these infants did not survive until discharge, and 86.2% experienced extrauterine growth restriction. As a result, this study aims to assess the time to initiation of TF and its predictors among preterm neonates in the Tigray region. A prospective, institutional-based follow-up study was conducted on 193 preterm neonates admitted to the Neonatal Intensive Care Unit, with participants selected using systematic random sampling from a group of public hospitals.:The data collection period was from December 20, 2024, to February 30, 2025. Data was entered into Epi-Data version 4.7 and then exported to STATA version 14 for cleaning and analysis. To compare survival curves, Kaplan-Meier analysis and the log-rank test were used, bivariate and multivariate Cox regression analysis were used, all statistical tests were considered significant at a p-value of <0.05. A total of 193 neonates were followed for 8382 person-hours of risk time and 173 (89.6%) of neonates were initiated trophic feeding. The incidence rate of initiating trophic feeding was 2 per 100 person hours' observations with a median time of 45 hours (95% CI: 42-56). Birth weight <1500 gram (AHR: 0.16,95% CI:0.075-0.35), APGAR score at first minute < 7 (AHR: 0.46,95% CI:0.26-0.76),APGAR score at fifth minute < 7 (AHR: 0.38,95%CI:0.21-0.68, having respiratory distress syndrome (AHR: 0.41,95% CI:0.25-0.66, and absence of Kangaroo mother care (AHR: 0.41,95% CI:0.21-0.77), were statistically Significant associated factors for the delay of initiation of trophic feeding. In this study, a significant delay in the initiation time of trophic feeding. Therefore, health institutions should work on very low birth weight, APGAR scores below seven at one and five minutes, the presence of RDS, and the absence of KMC to shorten the initiation time and reduce complications associated with the delay.
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Heart rhythmMECP2-Associated Rett Syndrome Without Developmental Regression-A Case Series.
Journal of child neurologyOculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.
Clinical dysmorphologyPreventing ovarian aging: from redox-targeted strategies to extracellular vesicle-based therapies.
Frontiers in agingMisdiagnosis of superior sulcus tumours: a scoping review.
Journal of thoracic diseaseStaged Management of Delayed-Onset Upper Arm Compartment Syndrome Following Humeral Shaft Fracture: A Case Report.
Case reports in orthopedicsPostoperative Functional Recovery After Carpal Tunnel Release: A Narrative Review on Exercise-Based Rehabilitation.
CureusExpanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient.
Cureus[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 medicaUnusual Synchronous Arbitrary-Gate Doppler Spectra Enable Intraoperative Hemodynamic Warning of Cerebral Hyperperfusion Syndrome on Moyamoya Disease.
CNS neuroscience & therapeuticsP-glycoprotein-mediated impairment of doxorubicin clearance in inflammatory bowel disorders: Mechanistic insights from rat studies and whole-body physiologically based pharmacokinetic modeling.
Drug metabolism and disposition: the biological fate of chemicalsOptimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.
American journal of medical genetics. Part AGenotype-Guided Risk Stratification of Mitral Valve Surgery in Marfan Syndrome.
Journal of the American College of Cardiology[Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Neurogenic thoracic outlet syndrome: a rare diagnosis in the pediatric population].
Nederlands tijdschrift voor geneeskundeQu-Shi-Jie-Du Decoction for Prevention of Recurrence and Metastasis in High-Risk Stage II/III Colon Cancer: Study Protocol for a Double-Blind, Randomized, Placebo-Controlled Trial.
Integrative cancer therapiesTransforaminal 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)Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
medRxiv : the preprint server for health sciencesIdentification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report.
Translational pediatricsNovel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.
Sultan Qaboos University medical journalOlfactory Groove Meningioma Presenting With Visual Decline and Gait Disturbance: A Case Report.
CureusOpen-Angle Glaucoma Presenting as Delayed-Onset Interface Fluid Syndrome in a Patient With Minimal Risk Factors.
CureusCongenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report.
CureusAdvances in RT-PCR-Based Point-of-Care Systems for Rapid Detection of Dengue Virus Serotypes: A Narrative Review.
Journal of vector borne diseasesQT Myopia and Cardiac Safety: Expanding the Aperture of Arrhythmia Assessment in Early Phase Drug Development.
Clinical and translational scienceFertility preservation in patients with Turner syndrome: a SWOT analysis.
Reproductive biomedicine onlineOptimal duration between drainage for obstructing renal or ureteral stones associated with infection and ureteroscopic lithotripsy: a randomized controlled trial.
World journal of urologySuccess rates of a surgical neurectomy for lateral cutaneous nerve entrapment syndrome (LACNES).
Scandinavian journal of painLinezolid-induced Posterior Reversible Encephalopathy Syndrome: A Case Report and Review of the Literature.
Clinical neuropharmacologyAnalytical and clinical evaluation of the Alinity m Resp-4-Plex assay in comparison to two singleplex SARS-CoV-2 assays and one multiplex respiratory assay.
Microbiology spectrumFirst Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.
American journal of medical genetics. Part AExpanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.
Journal of child neurologyDe Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.
American journal of medical genetics. Part AEvidence for Environment-Specific Pace-of-Life Syndromes.
Ecology and evolutionRethinking Thiamine in the Emergency Department: Why a Hi-Phy-Vi-Based "Suspect and Treat" Approach Matters in an Aging Society.
CureusCharacterization of an induced pluripotent stem cell line from a long QT syndrome type 1 patient possessing the KCNQ1 c.691C > T (p.Arg231Cys) variant.
Stem cell researchSex-Specific Associations Between Depression and Cardiovascular-Kidney-Metabolic Syndrome Progression: A National Cohort Study.
European journal of preventive cardiologyOutpatient deformity correction: novel closed reduction technique transforms tibial trauma care.
International orthopaedicsA systematic review and meta-analysis of Zika virus epidemiology.
Nature healthImmediate and Gradual Withdrawal of Immunosuppression After Kidney Graft Loss Lead to Similar Outcomes.
Transplant international : official journal of the European Society for Organ TransplantationAdult-Onset Diabetes and Liver Fibrosis as Diagnostic Clues to Alström Syndrome: A Case Report.
CureusTrust Your Gut: Recognizing Whipple's Disease Beyond the Intestine.
CureusCardiac Complications in Systemic Lupus Erythematosus: A Systematic Review of Diagnostic and Prognostic Gaps.
CureusTraumatic Cervical Myelopathy Masked by Alcohol Intoxication and Diagnostic Anchoring.
CureusLate Presentation of Brachial Plexus Traction Injury After Fixation of Chronic Clavicle Nonunion Mimicking Brachial Plexitis: A Case Report and Literature Review.
CureusA Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome.
Clinical case reportsEndovascular Revascularization Followed by Isolated Popliteal Artery Decompression for Popliteal Artery Entrapment Syndrome: A Multicenter Retrospective Comparative Study.
Annals of vascular surgeryExpanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.
European journal of pediatricsSurvival From Severe Carbon Monoxide Intoxication Complicated By Aspiration ARDS: A Case for Sequential Management Approach.
Pediatric pulmonologyBMPR2 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 AArtificial intelligence applications in emergency triage for suspected acute coronary syndrome: a systematic review.
International journal of medical informaticsTwo Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series.
The American journal of case reportsEvaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.
American journal of medical genetics. Part APrognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review.
Journal of clinical immunologyGeneration of hiPSCs lines from PRICKLE2-mutant individuals with epilepsy.
Stem cell researchAn Integrated Prehospital Point-of-Care Lung Ultrasound Protocol for Patients with Dyspnea.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineWDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.
Clinical geneticsOrgan-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.
Congenital anomaliesDelayed acute respiratory distress syndrome and sepsis-associated disseminated intravascular coagulation following aluminium phosphide poisoning.
BMJ case reportsImpact of Intensive Cyclophosphamide-Containing Multi-Agent Bridging Therapy on Outcomes after Idecabtagene Vicleucel in Multiple Myeloma.
Transplantation and cellular therapyDelayed forebrain excitatory and inhibitory neurogenesis in STRADA-related megalencephaly via mTOR hyperactivity.
Stem cell reportsChild Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.
NeurologyDifferential modulation of haematopoietic and oxidative injury by PARP-1 and ATR kinase inhibition in a murine model of acute irradiation.
PloS oneRapidly 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[Postthrombotic syndrome: an update].
Dermatologie (Heidelberg, Germany)Cauda equina syndrome caused by intradural migration of a bullet: A rare case presentation.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTESPredictive Factors for the Occurrence of Low Anterior Resection Syndrome after Surgical Intervention.
Chirurgia (Bucharest, Romania : 1990)One-month early time-restricted eating mitigates brain aging and enhances memory in males with metabolic syndrome: an MRI structural study.
Frontiers in agingCTNNB1-related disorders: clinical and radiological contributions from a French cohort.
Frontiers in neurologyCase 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 oncologyThe role of PYY in improving insulin resistance.
Frontiers in endocrinologyCase Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.
Frontiers in geneticsTraumatic Liver Injury With Delayed Bleeding After Extracorporeal Cardiopulmonary Resuscitation.
CureusA Presumed Dysphagia Aortica in a Siamese Cat.
Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology AssociationPredictors of Survival and Length of Stay in Steven Johnson syndrome and toxic epidermal necrolysis: A single centre retrospective study of 111 patients.
Journal of burn care & research : official publication of the American Burn AssociationNavigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.
BMJ case reportsDifferential Diagnosis of Eosinophilic Lung Diseases.
The journal of allergy and clinical immunology. In practiceEarly Recovery Trajectories Predict Achievement of a Patient-Acceptable Symptom State After Open and Endoscopic Carpal Tunnel Release.
The Journal of hand surgeryCardiac herniation after surgically induced pericardial defects: A systematic review.
Turk gogus kalp damar cerrahisi dergisiAn Overview of Red Breast Syndrome: A Qualitative Systematic Review of the Literature and a Single-center Case Series.
Aesthetic surgery journalDelayed Diagnosis of Sheehan's Syndrome Following Postpartum Hemorrhage and Emergency Hysterectomy: A Case Report.
CureusNovel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.
Frontiers in geneticsUnilateral vulvar hematoma after laparoscopic detorsion of the ipsilateral ovary following oocyte retrieval for IVF: A case report and review of anatomy and surgical planning.
Case reports in women's healthExperimental adaptation of pigeon rotavirus A (pRVA) in human colorectal cancer cells reveals interferon-driven host responses and immune checkpoint modulation.
New microbes and new infectionsDelayed cauda equina compression caused by BioGlue®-induced granulomatous reaction following spinal dural repair: A case report.
Surgical neurology internationalAssociações
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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.
- Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
- Back pain in an adolescent: not just a sore spine!
- Inferior wall ST-elevation myocardial infarction in a patient with a single coronary artery from the right coronary cusp trifurcating into the left anterior descending, left circumflex, and right coronary arteries: a rare coronary anomaly, case report.
- Second allogeneic stem cell transplantation for XMEN disease.
- Time to initiate trophic feeding and predictors among preterm neonates admitted at General Hospitals in Tigray, 2025.
- Mast cell mediators in hereditary angioedema.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:397612(Orphanet)
- OMIM OMIM:615637(OMIM)
- MONDO:0014289(MONDO)
- GARD:17630(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
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
