A síndrome de ictiose-hepatoesplenomegalia-degeneração cerebelar é caracterizada por ictiose, hepatoesplenomegalia e ataxia cerebelar de início tardio. Foi descrito em dois irmãos. A transmissão é autossômica recessiva ou ligada ao cromossomo X.
Introdução
O que você precisa saber de cara
A síndrome de ictiose-hepatoesplenomegalia-degeneração cerebelar é caracterizada por ictiose, hepatoesplenomegalia e ataxia cerebelar de início tardio. Foi descrito em dois irmãos. A transmissão é autossômica recessiva ou ligada ao cromossomo X.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
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Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.
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Os sinais que médicos procuram e os exames que confirmam
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🇧🇷 Atendimento SUS — Síndrome de ictiose-hepatoesplenomegalia-degenerescência cerebelar
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Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder caused by biallelic pathogenic variants in the Th gene, leading to a deficiency in the rate-limiting enzyme for the synthesis of dopamine (DA) and other catecholamine neurotransmitters. THD is associated with dystonia and infantile parkinsonism with a broad and complex spectrum and variable response to l-Dopa therapy. TH1-p.R202H is a frequent THD variant that affects TH stability and activity. The Th knock-in (Th-ki) mice with the equivalent mutation (Th-p.R203H) present reduced TH and DA levels, biological and molecular alterations, different phosphorylation patterns and altered distribution of dopaminergic markers relative to wild-type mice. Th-ki mice displayed significantly reduced TH, especially in the striatum, but also in the cortex, olfactory bulb, cerebellum, substantia nigra, globus pallidus, and spinal cord, a decrease that is not associated with dopaminergic neuronal degeneration. No changes were observed in Th-mRNA expression, and the decreased level of TH in the concrete brain areas in Th-ki mice appears to be due to defective TH protein axonal transport. Moreover, we characterized the development of dopaminergic neurons in the substantia nigra and neuronal plasticity in various brain regions. Our results indicated that alterations in TH expression within specific striatal GABAergic interneurons due to TH deficiency may potentially disrupt the balance of inhibitory neurotransmission in the striatum. Overall, our findings demonstrate that TH deficiency disrupts striatal inhibitory circuitry and triggers compensatory neuronal plasticity, without causing neuronal degeneration.
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Case Report: Application of extracorporeal shockwave therapy in medial epicondylitis with concomitant ulnar nerve instability: a case series with long-term follow-up.
Medial epicondylitis is an overuse syndrome characterized by degeneration of the flexor-pronator tendons in the elbow, resulting from repetitive forced wrist flexion and forearm pronation. Due to its anatomical location, medial epicondylitis patients may also feature ulnar nerve instability, which can exacerbate symptoms and negatively impact treatment outcomes. Although conservative treatments remain the cornerstone of care for managing medial epicondylitis, the optimal treatment method remains an open question. To evaluate the effects of a combined extracorporeal shockwave therapy (ESWT) protocol on pain, symptom severity, and functional outcomes in medial epicondylitis patients with concomitant ulnar nerve instability. Retrospective case series study with two-year post-treatment follow-up. Center for Rehabilitative Medicine "Sport and Anatomy", University of Pisa. Patients underwent a combined ESWT using the Duolith SD1 ultra device (Storz Medical AG., Switzerland), consisting of sequential focal (0.15-0.20 mJ/mm2, 5-6 Hz, 1,000 shocks) and radial (1.3-1.8 mJ/mm2, 14 Hz, 2,000 shocks) shockwave application per session. Each patient received three to five weekly sessions. Medial epicondylitis patients with concomitant ulnar nerve involvement who underwent a combined ESWT protocol between September 2019 and May 2023. Pain severity and upper limb disability were assessed with the numerical rating scale, the shortened Disabilities of the Arm, Shoulder and Hand questionnaire, and the Ulnar Neuropathy at the Elbow Questionnaire. Patient treatment satisfaction was evaluated with the Roles and Maudsley score. Of the reviewed 15 consecutive medical charts, only three subjects fulfilled the inclusion criteria. Two patients showed a marked decrease in pain and improved functionality scores at all time points; one patient remained unchanged throughout the study; no adverse effects were observed. This retrospective study suggests that ESWT may be efficacious and safe for treating medial epicondylitis patients with concurrent ulnar nerve instability. Prospective studies with a larger sample size are needed to warrant the present results.
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Frontotemporal lobar degeneration (FTLD) encompasses heterogeneous clinical syndrome within the frontotemporal spectrum, where clinicopathological associations may be misleading. This case series illustrates clinicopathological variability and mismatches. A retrospective case series was conducted within the brain donation program at the Golgi Cenci Foundation. Cases presenting at onset with a frontotemporal-spectrum phenotype, longitudinal clinical data, and post-mortem neuropathological characterization were included. Five cases (mean age at onset 65.4 years) were clinically diagnosed with major neurocognitive disorder due to frontotemporal dementia (FTD). Neuropathological examination revealed clinicopathological heterogeneity: two cases showed FTLD-TDP-A associated with GRN mutations, including a classic case and one with posterior (parieto-occipital) involvement; one non-fluent variant primary progressive aphasia (nfvPPA) case demonstrated FTLD-TDP-A with multiple co-pathologies; one semantic-variant-like case was driven by high Alzheimer's disease neuropathological changes; and one behavioral variant FTD-like case corresponded to frontal-variant Alzheimer's disease (fvAD) with extensive mixed pathology, including Lewy body disease, LATE-NC, and vascular pathology. Findings indicate that clinical phenotypes are more influenced by the anatomical distribution of pathology than by the specific molecular substrate. Frequent coexisting proteinopathies and asymmetric involvement contribute to phenotypic variability, reinforcing the role of neuropathological examination of both hemispheres for accurate clinicopathological correlations and definitive etiological diagnosis.
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Pre-mortem diagnosis of parkinsonism is often challenging due to atypical presentations, overlapping syndromes, and co-pathologies. This study aimed to develop a machine learning-based algorithm predicting neuropathology in parkinsonism using chronological clinical presentations, which has previously been underexplored. Clinical information was automatically abstracted from medical records of the Mayo Clinic Brain Bank using fine-tuned Generative Pre-trained Transformer 4 models. Patients who developed parkinsonism within 3 years of disease onset were included. Six machine learning models were trained with age, sex, family history, and 197 clinical presentations paired with onset information to predict neuropathologic diagnoses, including co-pathologies. Among 7,825 donors, 949 met inclusion criteria, representing 9 neuropathologic categories: Lewy body disease (LBD; n = 128), LBD with Alzheimer's disease (AD; n = 136), progressive supranuclear palsy (PSP; n = 303), PSP with AD (n = 56), PSP with LBD (n = 27), multiple system atrophy (MSA; n = 120), corticobasal degeneration (CBD; n = 99), AD (n = 43), and frontotemporal lobar degeneration (FTLD; n = 37). The CatBoost algorithm achieved an area under the receiver operating characteristic curve of 0.83 across the 9 diagnostic categories at 3 years after onset. Important predictors included age at onset, restricted eye movement, and tremor. The model remained robust to incomplete data, requiring only 23 of 200 parameters for reliable predictions with an area under the curve of 0.80. The algorithm was implemented into a user-friendly program providing diagnostic probabilities with visualizations of parameter contributions. This neuropathology-confirmed diagnostic algorithm provides a cost-effective and interpretable screening tool for parkinsonism, bridging biomarker testing and molecular-targeted therapies. ANN NEUROL 2026.
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CureusGlobal, regional, and national burden of chronic respiratory diseases and impact of the COVID-19 pandemic, 1990-2023: a Global Burden of Disease study.
Nature medicineThe 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 NeurophysiologyEvaluation of warning strategies for paraneoplastic neurological syndromes associated with PD-1/PD-L1 inhibitors.
Frontiers in immunologyLong-term Stable Unilateral Mandibular Deformity Associated With Ipsilateral Skull-base Soft-tissue Lesion and Degenerated Pterygoid Muscles in Neurofibromatosis Type 1.
Cancer diagnosis & prognosisAssessment of dry eye disease and retinal nerve fiber layer thickness in chronic smokers.
Contact lens & anterior eye : the journal of the British Contact Lens AssociationGenotype-phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study.
The British journal of dermatologySpontaneous and experimentally induced lesions in NOD-scid gamma and other NOD-derived mouse strains.
Veterinary pathologyRole of gut microbiomes in different ocular pathologies: A systematic review.
World journal of gastrointestinal pathophysiologyAlpha-Gal Syndrome Allergy to Intravitreal Administration of Anti-Vascular Endothelial Growth Factor Agents.
Journal of vitreoretinal diseasesResveratrol mitigates TOCP-induced spinal cord neurotoxicity by suppressing ferroptosis, a process mediated through the p62/Keap1/Nrf2 pathway.
Toxicology and applied pharmacologyParaneoplastic syndromes in ovarian cancer: Clinical manifestations, mechanisms and management challenges.
Journal of cancer research and therapeuticsDe novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
American journal of human geneticsPraja1 E3 ubiquitin ligase and the role it plays in neurodegeneration.
The FEBS journalHuman Mutant Dynactin Subunit 1 Causes Profound Motor Neuron Disease Consistent with Possible Mechanisms Involving Axonopathy, Mitochondriopathy, Protein Nitration, and T-Cell-Mediated Cytolysis.
BiomoleculesThe Dual Role of RUNX1 in Inflammation-Driven Age-Related Diseases: From Molecular Mechanisms to Clinical Translation.
BiomedicinesPlant-Based Care and Therapy in Ophthalmology.
Antioxidants (Basel, Switzerland)Characterization of age-related dolichol increases in the retina of the C57BL/6 mouse.
Scientific reportsConditioned media and extracellular vesicles derived from human Wharton's jelly mesenchymal stem cells improve the in vitro maturation of immature oocytes in normal and PCOS mouse model.
Biomedical engineering onlineWhite matter hyperintensities in the deep cerebral venous territory differ between subcortical and cortical 4-repeat tauopathies.
Parkinsonism & related disordersProgeroid Syndrome with Signs of Autophagy Dysfunction in the Naked Mole Rat (Heterocephalus glaber).
Biochemistry. BiokhimiiaSoman-induced neurotoxicity in human iPSC-derived cerebral organoids: A whole-transcriptome analysis of ceRNA regulatory networks.
NeurotoxicologyThe human ovarian reserve: the narrative and the science.
Human reproduction updateEndovascular treatment of patients concurrent with type 3A aortic syndrome and degeneration (infrarenal) abdominal aortic aneurysm.
Journal of the Chinese Medical Association : JCMAGlymphatic transport and ocular diseases.
Progress in retinal and eye researchThe Paper-Toss Test: enhancing bedside recognition of corticobasal syndrome.
Frontiers in neurologyNeurocognition, cerebellar functions and psychiatric features in spinocerebellar ataxia type 34: a case series.
Frontiers in computational neuroscienceSex-Specific Impact of Metabolic Syndrome on Brain Structures Vulnerable to Alzheimer's Disease: A Cross-Sectional Study in a Brazilian Cohort.
Brain sciencesAutoimmune-associated early double bioprosthetic valve failure: A case report.
PerfusionSpinal manifestations of Paget's disease: Case presentation and systematic review.
Brain & spine[Meibomian gland dysfunction in Salzmann's nodular degeneration].
Vestnik oftalmologiiNeurotoxic and neurobehavioral impacts of silica nanoparticles on brain tissue of albino rats with the potential ameliorative efficacy of liposomal curcumin.
Journal of molecular histologyREDUCTION OF SCLERAL THICKNESS WITH TOPICAL FLUOROMETHOLONE IN MANAGEMENT OF CHRONIC CENTRAL SEROUS CHORIORETINOPATHY COMPLICATED BY POSTERIOR CYSTOID DEGENERATION.
Retinal cases & brief reportsAutoimmune thyroid disease and human health: a systematic review of Mendelian randomization studies.
Frontiers in immunologyNon-pressurized percutaneous endoscopic transforaminal lumbar discectomy in the treatment of cauda equina syndrome caused by lumbar disc herniation.
Frontiers in surgeryThyroid cancer with internal jugular vein tumor embolism and skull base invasion causing polyneuropathy.
Auris, nasus, larynxClinical Framework for Motor Rehabilitation in Parkinsonism: Integrating Individualized and Syndrome-Specific Approaches.
Brain & NeuroRehabilitationThe cyclic nucleotide binding sites of Swiss-Cheese, the Drosophila orthologue of human PNPLA6, are required for its catalytic function.
bioRxiv : the preprint server for biologyUnder the dual hit: genetic and phenotypic analysis of a Han family with severe adolescent cirrhosis from the convergence of Wilson's disease and favism.
GeneBiallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration.
MitochondrionMultimodality Imaging Assessment of a Giant Middle Mediastinal Schwannoma.
Echocardiography (Mount Kisco, N.Y.)TDP-43 suppression of ATP8A2 cryptic splicing implicates phosphatidylserine-driven neuroinflammation in ALS/FTD.
bioRxiv : the preprint server for biologyPractice preference of revision surgery for recurrent lumbar disc herniation: an international survey of AO spine members.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyAPD-based rod cell model with integrated ion channel mechanisms for investigating the ERG a-wave and retinal diseases.
Free radical biology & medicineA Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.
International journal of molecular sciencesIntegrated peripheral metabolic and inflammatory biomarker signatures are associated with clinical deterioration in Creutzfeldt-Jakob disease.
Neurobiology of diseaseAssociações
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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.
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
- Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.
- Case Report: Application of extracorporeal shockwave therapy in medial epicondylitis with concomitant ulnar nerve instability: a case series with long-term follow-up.
- Frontotemporal lobar degeneration complexity: atypical presentations and heterogeneous proteinopathies in five cases.
- Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.
- CORTICOBASAL SYNDROME PRESENTING AS A PROGRESSIVE HEMIPARETIC SYNDROME: A CASE REPORT.
- De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
- Motor stereotypies, Dhat syndrome, and gaming disorder: A masquerading presentation of Wilson's disease.
- [Semicircular canal dehiscence syndrome: a variety of complaints and treatment difficulties].
- A Case of Rowell Syndrome: Excellent Response to Oral Cyclosporine.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2274(Orphanet)
- OMIM OMIM:242520(OMIM)
- MONDO:0009445(MONDO)
- Ictiose Hereditaria(PCDT · Ministério da Saúde)
- GARD:1993(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55345709(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