Raras
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Síndrome de paraplegia espástica-lesões cutâneas da face
ORPHA:2819CID-10 · G11.4DOENÇA RARA

A síndrome de paraplegia espástica-lesões facial-cutâneas é uma forma complexa de paraplegia espástica hereditária caracterizada por atrasos no desenvolvimento motor seguido por uma paraplegia espástica lentamente progressiva (afetando principalmente as extremidades inferiores) associada a uma erupção cutânea descamativa com distribuição em borboleta (apresentando-se por volta dos dois meses de idade) e disartria. Não houve mais descrições na literatura desde 1982.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de paraplegia espástica-lesões facial-cutâneas é uma forma complexa de paraplegia espástica hereditária caracterizada por atrasos no desenvolvimento motor seguido por uma paraplegia espástica lentamente progressiva (afetando principalmente as extremidades inferiores) associada a uma erupção cutânea descamativa com distribuição em borboleta (apresentando-se por volta dos dois meses de idade) e disartria. Não houve mais descrições na literatura desde 1982.

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
5
pacientes catalogados
Início
Infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G11.4
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Sinais e sintomas

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

Partes do corpo afetadas

🧬
Pele e cabelo
2 sintomas
🧠
Neurológico
1 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

90%prev.
Hiperreflexia
Muito frequente (99-80%)
90%prev.
Distúrbio da marcha
Muito frequente (99-80%)
90%prev.
Anormalidade da fala ou vocalização
Muito frequente (99-80%)
90%prev.
Manchas cutâneas hipopigmentadas
Muito frequente (99-80%)
90%prev.
Anormalidade no EEG
Muito frequente (99-80%)
90%prev.
Espasticidade
Muito frequente (99-80%)
9sintomas
Muito frequente (9)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 características clínicas mais associadas, ordenadas por frequência.

HiperreflexiaHyperreflexia
Muito frequente (99-80%)90%
Distúrbio da marchaGait disturbance
Muito frequente (99-80%)90%
Anormalidade da fala ou vocalizaçãoAbnormality of speech or vocalization
Muito frequente (99-80%)90%
Manchas cutâneas hipopigmentadasHypopigmented skin patches
Muito frequente (99-80%)90%
Anormalidade no EEGEEG abnormality
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos132publicações
Pico202520 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

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 paraplegia espástica-lesões cutâneas da face

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Selecione um estado ou use sua localização para ver resultados.

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

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Publicações mais relevantes

🥈Melhor nível de evidência: Observacional
Timeline de publicações
0 papers (10 anos)
#1

Outcomes of adherence to play therapy in children with cerebral palsy: a clinical trial.

La Clinica terapeutica2026

Cerebral palsy (CP)is an umbrella term covering a group of non-progressive, but often changing, motor impairment syndromes secondary to lesions or anomalies of the brain arising in the early stages of development. Play is an occupation of childhood. Through play children improve performance skills. Research shows that play therapy has a positive effect on improving motor skills in children. Games in a way stimulate the nervous system and make the child active, they create vitality and nerve readiness which cause excitement and interaction of sensory and perceptual parts and decision making in children. The primary objective was to determine adherence to a structured play-therapy program in children with CP. The secondary objective was to explore changes in hand/upper-extremity function following the program. This pilot, single-arm clinical trial recruited 12 children (5-13 years) with hemiplegic or diplegic CP from Sneha Kiran Spastic Society, Mysore. The intervention comprised institution-based play therapy (45 minutes/day, 5 days/week for 6 weeks) with a home component (2 days/week). Adherence was calculated as the percentage of prescribed sessions completed, with ≥75% predefined as adherent. Upper-extremity function was assessed using the Quality of Upper Extremity Skills Test (QUEST) before and after the program. Institutional adherence ranged from 59% to 96% (mean 86.4%); 11/12 children met the ≥75% adherence threshold. Home adherence was lower (0%-83%). QUEST scores increased from 47.65 ± 14.47 (pre) to 48.51 ± 14.61 (post), with a statistically significant pre-post change on Wilcoxon signed-rank testing (Z = -1.992, p = 0.046). There was good adherence to play therapy (84.6%) in children with hemiplegic and diplegic cerebral palsy with age group of 6 to 12 years. There was significant improvement in hand function after 6 weeks of play therapy. Therefore, play therapy can be implemented in children with cerebral palsy. Larger controlled studies are warranted to confirm effectiveness and to address barriers to home adherence.

#2

Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.

Neurology2025 Oct 07

Coats plus (Cp) is a pleiotropic disorder with multisystemic manifestations including retinal vascular disease and leukoencephalopathy with intracranial calcifications and cysts. It is an autosomal recessive telomere biology disorder mostly associated with compound heterozygous defects in CTC1 gene. Cp typically presents in early childhood with poor long-term prognosis. In this study, we describe the case of a 46-year-old woman presenting with a first unprovoked seizure in the setting of 2 years of progressive behavioral and cognitive deterioration. Her medical history was notable for retinal vascular disease, anemia, restrictive lung disease under consideration for transplantation, osteoporosis, and infertility, with persistently elevated antinuclear antibodies concerning for a possible systemic autoimmune disease. She had been treated with chronic immunosuppression for the previous 9 years without a clear response, although with poor compliance. Her family history was unremarkable. Brain MRI revealed an asymmetric leukoencephalopathy with a gadolinium-enhancing tumefactive lesion and intracranial calcifications. Acquired etiologies such as malignancy, inflammatory, and infectious diseases were excluded. Despite adult onset, absence of family history, and asymmetrical MRI brain findings, we then considered a genetic autoinflammatory or neurovascular syndrome. Sanger sequencing of the TREX1 gene excluded retinal vasculopathy with leukoencephalopathy and systemic manifestations (RVCL-S). A large multigene panel for neurologic diseases identified a homozygous pathogenic in-frame deletion in the CTC1 gene (NM_025099.6:c.2954_2956del), establishing the diagnosis of Cp. This case broadens the clinical spectrum of Cp to include a milder adult-onset phenotype. Moreover, it highlights Cp as a potential mimic of autoimmunity, with the need to question previously presumed diagnoses.

#3

Antemortem radiologic and histopathologic presentation of Marchiafava-Bignami disease.

Journal of neuropathology and experimental neurology2025 Nov 01

Marchiafava-Bignami disease (MBD) is a rare disorder, characterized by demyelination and cystic necrosis of the corpus callosum; it is typically seen in the setting of chronic alcoholism but may also occur with severe malnutrition. Clinical features include altered mental status, loss of consciousness, dysarthria, spasticity, ataxia, and seizures. To our knowledge, only 1 case of MBD with antemortem histology has been reported in the literature. Herein, we describe the clinical, radiologic, and histopathologic features of 2 new cases with corpus callosum demyelination consistent with MBD that were identified on antemortem biopsy; 1 was related to chronic alcoholism and the other was in the setting of severe malnutrition. Imaging studies showed that the initial lesions involved the full thickness of the corpus callosum with later evolution into the characteristic linear zone of necrosis in the mid-third of the corpus callosum. There was additional evidence of extracallosal involvement in both patients. Biopsies in both patients demonstrated numerous macrophages with myelin debris in their cytoplasm and relative axonal preservation, although there was some axonal loss in areas with the densest collection of macrophages. These findings highlight the clinical and radiographic progression in 2 cases of biopsy-proven MBD.

#4

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Brain communications2025

Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two families. With only two families reported, the clinical and molecular spectrum of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13-related diseases remains unclear. We report 10 additional affected individuals from nine independent families, identifying four missense variants (including recurrent c.170G > A) and three ultra-rare or novel predicted loss-of-function biallelic variants. Updated clinical-radiological data from previously reported families and a literature review compiling clinical features of all reported patients with isolated complex I deficiency caused by 43 genes encoding complex I subunits and assembly factors are also provided. Our cohort (mean age 7.8 ± 5.4 years; range 2.5-18) predominantly presented a moderate-to-severe neurodevelopmental syndrome with oculomotor abnormalities (84%), spasticity/hypertonia (83%), hypotonia (69%), cerebellar ataxia (66%), movement disorders (58%) and epilepsy (46%). Neuroimaging revealed bilateral symmetric T2 hyperintense substantia nigra lesions (91.6%) and optic nerve atrophy (66.6%). Protein modeling suggests missense variants destabilize a critical junction between the hydrophilic and membrane arms of complex I. Fibroblasts from two patients showed reduced complex I activity and compensatory complex IV activity increase. This study characterizes NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13-related disease in 13 individuals, highlighting genotype-phenotype correlations.

#5

Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.

International journal of molecular sciences2025 Jan 27

We report on a sporadic patient suffering Leigh syndrome characterized by bilateral lesions in the lenticular nuclei and spastic dystonia, intellectual disability, sensorineural deafness, hypertrophic cardiomyopathy, exercise intolerance, and retinitis pigmentosa. Complete sequencing of mitochondrial DNA revealed the heteroplasmic nucleotide change m.15635T>C affecting a highly conserved amino acid position (p.Ser297Pro) in the cytochrome b (MT-CYB) gene on a haplogroup K1c1a background, which includes a set of four non-synonymous polymorphisms also present in the same gene. Biochemical studies documented respiratory chain impairment due to complex III defect. This variant fulfils the criteria for being pathogenic and was previously reported in a sporadic case of fatal neonatal polyvisceral failure.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 130

2026

Outcomes of adherence to play therapy in children with cerebral palsy: a clinical trial.

La Clinica terapeutica
2025

Acute Spinal Cord Syndrome As the Initial Manifestation of Multiple Sclerosis: A Case Report.

Cureus
2025

Progressive spinal cord involvement in Leigh syndrome due to an NDUFV1 variant.

Radiology case reports
2025

Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.

Neurology
2025

A novel contralateral ulnar nerve transfer model for selective muscle reinnervation in upper motor neuron syndrome.

Neural regeneration research
2025

Post-acute Corticospinal and Spinal Tractopathy after Coronavirus Disease 2019: A Novel Post-infectious Neurological Syndrome?

Internal medicine (Tokyo, Japan)
2025

High-Frequency Transcutaneous Electrical Nerve Stimulation in the Management of Pyramidal Tract-Related Spasticity: A Systematic Review.

Cureus
2025

Antemortem radiologic and histopathologic presentation of Marchiafava-Bignami disease.

Journal of neuropathology and experimental neurology
2025

Comprehensive Examination of Upper-Extremity Spasticity.

The Journal of hand surgery
2025

[Genetic analysis of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Subacute Combined Degeneration Presenting With Prominent Autonomic Symptoms 12 Years After Total Gastrectomy: A Case Report.

Cureus
2025

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Revue neurologique
2025

A rare case of Pott's Disease in a 10-year-old female patient of Indian origin.

Przeglad epidemiologiczny
2025

Zinc-Induced Copper Deficiency Myeloneuropathy Masquerading as Paraneoplastic Syndrome: A Case Report.

Cureus
2025

French protocol for diagnosis and management of type 1 interferonopathies.

La Revue de medecine interne
2025

Indication of Implantable Cardioverter Defibrillators for Ventricular Arrhythmias in Coronary Spastic Angina.

Pacing and clinical electrophysiology : PACE
2025

Hybrid nerve sheath tumor of the spinal canal and neurofibromatosis-2, where the twain shall meet-a case report and review of literature.

Journal of medical case reports
2025

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Brain communications
2025

Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.

International journal of molecular sciences
2025

Exploring the Pathophysiology, Diagnosis, and Treatment Options of Multiple Sclerosis.

Journal of integrative neuroscience
2024

[A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2024

Spinal hydatid disease: a case report - an uncommon differential diagnosis in LMICs.

Annals of medicine and surgery (2012)
2024

High Detectability of Prehospital 12-Lead Electrocardiogram in Diagnosing Spasm-Induced Acute Coronary Syndrome.

Circulation journal : official journal of the Japanese Circulation Society
2025

Successful Electroconvulsive Therapy in Aicardi-Goutières Syndrome Presenting Psychiatric Symptoms: An Unprecedented Clinical Case.

The journal of ECT
2024

Surgical management of a thoraco-lumbar extradural cyst in a pediatric patient with Klippel-Trenaunay syndrome: a case report.

Annals of medicine and surgery (2012)
2024

A Case Report in the Management of Dysphagia in Osmotic Demyelination Syndrome Using Mann Assessment of Swallowing Ability (MASA).

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2024

Multiple Sclerosis: An Emergency Medicine-Focused Narrative Review.

The Journal of emergency medicine
2024

Hand knob sign in osmotic demyelinating syndrome.

BMC neurology
2023

Postural control deficits due to bilateral pyramidal tract lesions exemplified by hereditary spastic paraplegia (HSP) originate from increased feedback time delay and reduced long-term error corrections.

Frontiers in human neuroscience
2023

De Sanctis-Cacchione Syndrome with Subdural Effusion: A Rare Case from India with Review of Literature.

Indian journal of dermatology
2023

SERAC1 Deficiency- A New Phenotype.

Endocrine, metabolic &amp; immune disorders drug targets
2023

Thalamopeduncular Tumors in Pediatric Age: Advanced Preoperative Imaging to Define Safe Surgical Planning: A Multicentric Experience.

Journal of clinical medicine
2023

Frontal lobe motor syndromes.

Handbook of clinical neurology
2023

Tropical spastic paraparesis.

Handbook of clinical neurology
2023

[Clinical and neuroelectrophysiological characteristics of primary peripheral nerve hyperexcitability syndrome].

Zhonghua yi xue za zhi
2023

Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1-A Case Report.

Biomedicines
2023

Spastic dystonia: Still a valid term.

Developmental medicine and child neurology
2023

An Autopsy Case of Elderly Onset Brainstem Acute Disseminated Encephalomyelitis.

Case reports in neurology
2023

Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.

The neuroradiology journal
2023

Systemic lupus erythematosus with acute ischemic optic neuropathy complicated with neuromyelitis optica: a case report.

Journal of medical case reports
2023

A case report of spinal toxocariasis with extensive tumor-like involvement.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2022

Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy.

Neurology. Genetics
2022

Surgical removal of a compressive thoracic epidural vascular malformation in a patient with Klippel-Trénaunay syndrome: illustrative case.

Journal of neurosurgery. Case lessons
2022

Progressive motor neuron syndromes with single CNS lesions and CSF oligoclonal bands: never forget solitary sclerosis!

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2022

Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.

American journal of medical genetics. Part A
2022

Multiple sclerosis and migraine: Links, management and implications.

Multiple sclerosis and related disorders
2023

Palato-Pharyngo-Laryngeal Rhythmic Myoclonus in Neuro-Behcet Syndrome: A Case Report.

The Annals of otology, rhinology, and laryngology
2023

Limited dorsal myeloschisis without extradural stalk continuity to coexisting congenital dermal sinus.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2023

Epilepsy syndromes in cerebral palsy: varied, evolving and mostly self-limited.

Brain : a journal of neurology
2022

Seropositive Neuromyelitis Optica in a Case of Undiagnosed Ankylosing Spondylitis: A Neuro-Rheumatological Conundrum.

Qatar medical journal
2022

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

Frontiers in pediatrics
2022

A Dorsal Epidural Herniated Disc Fragment Initially Presenting as Guillain-Barré Syndrome.

Cureus
2022

NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature.

Frontiers in pediatrics
2021

Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family.

Frontiers in pediatrics
2022

Changes of Spasticity across Time in Prolonged Disorders of Consciousness: A Retrospective Study.

Brain sciences
2022

Mild encephalitis/encephalopathy with a reversible splenial lesion associated with systemic Mycoplasma pneumoniae infection in North America: a case report.

Journal of medical case reports
2022

Possible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.

Movement disorders clinical practice
2021

Pain in Multiple Sclerosis: Understanding Pathophysiology, Diagnosis, and Management Through Clinical Vignettes.

Frontiers in neurology
2021

Spastic paraplegia as the only manifestation in neuropsychiatric lupus: a case report.

European review for medical and pharmacological sciences
2021

Unusual magnetic resonance imaging of the head in manganese and ephedrone intoxication - a case report.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
2021

Progressive multifocal leukoencephalopathy and immune reconstitution inflammatory syndrome in seven patients with sarcoidosis: a critical discussion of treatment and prognosis.

Therapeutic advances in neurological disorders
2021

Surgical treatment of spinal arachnoid web: Report of two cases and literature review.

Surgical neurology international
2021

Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report.

Case reports in neurology
2021

Deep Brain Stimulation and Hypoxemic Perinatal Encephalopathy: State of Art and Perspectives.

Life (Basel, Switzerland)
2021

Hypereosinophilic syndrome with central nervous system involvement treated with anti-IL-5 therapy.

Multiple sclerosis and related disorders
2021

Copper deficiency-associated myelopathy in cryptogenic hyperzincemia: a case report.

Acta bio-medica : Atenei Parmensis
2021

Hyperbaric oxygen therapy for hypoxic-ischemic encephalopathy in non-fatal drowning.

Undersea &amp; hyperbaric medicine : journal of the Undersea and Hyperbaric Medical Society, Inc
2020

Spastic quadriplegia following intradermal use of hydrogen peroxide in the tardive curettage procedure for the treatment of a giant congenital nevus.

Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia
2020

EFFECTIVENESS OF PHYSICAL THERAPY IN MYOFASCIAL SYNDROME IN PATIENTS WITH MULTIPLE SCLEROSIS.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2020

Hyperacute extensive spinal cord infarction and negative spine magnetic resonance imaging: a case report and review of the literature.

Medicine
2020

Chronic Progressive Spastic Paraparesis: Think of Peroxisomal Disorders - A Case Report of X-Linked Adult Onset Adrenoleukodystrophy With an Update on The Latest Treatment Strategies.

Cureus
2020

Post-stroke complex regional pain syndrome and related factors: Experiences from a tertiary rehabilitation center.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2020

Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.

Genes
2021

Cerebral palsy and associated complex congenital nasolacrimal duct obstruction and pediatric acute dacryocystitis.

Orbit (Amsterdam, Netherlands)
2020

Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.

Rheumatology international
2020

Multiple sclerosis with intractable vomiting and atypical area postrema lesion.

Multiple sclerosis and related disorders
2020

Partial recovery of vegetative state after a massive ischaemic stroke in a child with sickle cell anaemia.

BMJ case reports
2020

[Spasticity management: an interprofessional evaluation].

Revue medicale suisse
2020

Cerebral palsy in children: a clinical overview.

Translational pediatrics
2020

Serotonin Syndrome Mimicking Intrathecal Baclofen Withdrawal in a Patient with Hereditary Spastic Paraparesis.

Journal of rehabilitation medicine. Clinical communications
2019

Broadening the phenotype of the TWNK gene associated Perrault syndrome.

BMC medical genetics
2020

Atypical Cauda Equina Syndrome with Lower Limb Clonus: A Literature Review and Case Report.

World neurosurgery
2020

Hereditary spastic paraplegia masqueraded by congenital melanocytic nevus syndrome: Dual pathogenesis of germline non-mosaicism and somatic mosaicism.

European journal of medical genetics
2019

[Infant with intracranial calcifications and retinopathy].

Revista de neurologia
2020

The "central vein sign" in patients with diagnostic "red flags" for multiple sclerosis: A prospective multicenter 3T study.

Multiple sclerosis (Houndmills, Basingstoke, England)
2019

Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.

Intractable &amp; rare diseases research
2019

Clinical and neuroimaging findings of spinal dural arteriovenous fistulas: How to avoid misdiagnosis of this disease.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2019

Metabolic and genetic disorders mimicking cerebral palsy.

Neurosciences (Riyadh, Saudi Arabia)
2019

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.

Journal of neurology
2019

Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing.

Mitochondrion
2019

Froin Syndrome After Spinal Cord Injury.

World neurosurgery
2019

Detection of clinical and neurological signs in apparently asymptomatic HTLV-1 infected carriers: Association with high proviral load.

PLoS neglected tropical diseases
2019

Large left posterior fossa meningioma presenting with quadriplegia in a woman with history of carbidopa-levodopa resistant parkinsonism.

Neurology international
2019

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.

Frontiers in neurology
2019

Unrecognized esophageal fish bone impaction with delayed presentation of acute spastic central chest pain: A case report.

Medicine
2018

Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.

Medicine
2019

The neurophysiology of deforming spastic paresis: A revised taxonomy.

Annals of physical and rehabilitation medicine
2019

Can compressive thoracic cord lesions cause a pure lower motor neurone syndrome?

Practical neurology
2018

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.

Annals of clinical and translational neurology
2017

Dartos reflex as autonomic assessment in persons with spinal cord injury.

Spinal cord series and cases
2018

Efficacy of Trunk Regimes on Balance, Mobility, Physical Function, and Community Reintegration in Chronic Stroke: A Parallel-Group Randomized Trial.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2017

Diagnostic contribution of magnetic resonance imaging in an atypical presentation of motor neuron disease.

Quantitative imaging in medicine and surgery
2017

Spasticity Management in Disorders of Consciousness.

Brain sciences
2017

Encephalocraniocutaneous Lipomatosis: Haberland Syndrome.

The American journal of case reports
2017

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS): A pediatric case report with six year follow-up.

Multiple sclerosis and related disorders
2017

Brain white matter demyelinating lesions and amyotrophic lateral sclerosis in a patient with C9orf72 hexanucleotide repeat expansion.

Multiple sclerosis and related disorders
2017

Awakening with amantadine from a persistent vegetative state after subarachnoid haemorrhage.

BMJ case reports
2017

[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2017

Osmotic demyelination syndrome in type 1 diabetes in the absence of dyselectrolytaemia: an overlooked complication?

BMJ case reports
2017

Paraneoplastic acute disseminated encephalomyelitis associated with multiple myeloma.

Multiple sclerosis and related disorders
2017

[A case of neuromyelitis optica spectrum disorder (NMOSD) with Sjögren's syndrome manifested only brain involvement by preceding parotitis].

Rinsho shinkeigaku = Clinical neurology
2017

[Acute Cerebrovascular events associated to hemolytic uremic syndrome: Description of two pediatric cases].

Revista chilena de pediatria
2017

Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

JIMD reports
2017

Myelopathy: chameleons and mimics.

Practical neurology
2016

[A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1].

Rinsho shinkeigaku = Clinical neurology
2016

[The efficacy of botulinum toxin therapy in patients with upper limb spasticity due to traumatic brain injury].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2019

Transcutaneous electrical nerve stimulation for spasticity: A systematic review.

Neurologia
2015

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.

The Turkish journal of pediatrics
2016

[X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome].

Revista de neurologia
2016

Antecedents of cerebral palsy according to severity of motor impairment.

Acta obstetricia et gynecologica Scandinavica
2016

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

American journal of medical genetics. Part A
2016

Intramedullary Tuberculoma Combined with Abscess: Case Report and Literature Review.

World neurosurgery
2015

Diagnosing Mitochondrial Disorder without Sophisticated Means.

Acta medica Iranica
2015

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Journal of medical genetics
2015

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.

Pediatric rheumatology online journal
2015

Botulinum Toxin Type A for the Treatment of Neuropathic Pain in Neuro-Rehabilitation.

Toxins
2015

Drug-resistant vasospastic angina pectoris with plaque erosion in the focal spastic lesion confirmed with coronary angioscopy.

BMJ case reports
2016

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

Journal of neurology, neurosurgery, and psychiatry
2015

The role of computerized tomographic scan in the management of children with cerebral palsy.

The Nigerian postgraduate medical journal
2015

Lathyrus hirsutus (Caley Pea) intoxication in a herd of horses.

Journal of veterinary internal medicine

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de paraplegia espástica-lesões cutâneas da face

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Outcomes of adherence to play therapy in children with cerebral palsy: a clinical trial.
    La Clinica terapeutica· 2026· PMID 41773379mais citado
  2. Pearls &amp; Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.
    Neurology· 2025· PMID 40953348mais citado
  3. Antemortem radiologic and histopathologic presentation of Marchiafava-Bignami disease.
    Journal of neuropathology and experimental neurology· 2025· PMID 40581781mais citado
  4. Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
    Brain communications· 2025· PMID 39963288mais citado
  5. Adult Leigh Syndrome Associated with the m.15635T&gt;C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.
    International journal of molecular sciences· 2025· PMID 39940884mais citado
  6. [A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].
    Zh Nevrol Psikhiatr Im S S Korsakova· 2024· PMID 39731388recente
  7. Frontal lobe motor syndromes.
    Handb Clin Neurol· 2023· PMID 37620084recente
  8. Progressive motor neuron syndromes with single CNS lesions and CSF oligoclonal bands: never forget solitary sclerosis!
    Neurol Sci· 2022· PMID 36121546recente
  9. Epilepsy syndromes in cerebral palsy: varied, evolving and mostly self-limited.
    Brain· 2023· PMID 35871494recente
  10. MEGDEL Syndrome.
    Pediatr Neurol· 2020· PMID 32684373recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2819(Orphanet)
  2. MONDO:0017275(MONDO)
  3. GARD:806(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55345995(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 paraplegia espástica-lesões cutâneas da face
Compêndio · Raras BR

Síndrome de paraplegia espástica-lesões cutâneas da face

ORPHA:2819 · MONDO:0017275
Prevalência
<1 / 1 000 000
Casos
5 casos conhecidos
CID-10
G11.4 · Paraplegia espástica hereditária
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2931617
Wikidata
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