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.
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
<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
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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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 paraplegia espástica-lesões cutâneas da face
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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.
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Journal of veterinary internal medicineAssociações
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.
- Outcomes of adherence to play therapy in children with cerebral palsy: a clinical trial.
- Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.
- Antemortem radiologic and histopathologic presentation of Marchiafava-Bignami disease.
- Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
- Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.
- [A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].
- Frontal lobe motor syndromes.
- Progressive motor neuron syndromes with single CNS lesions and CSF oligoclonal bands: never forget solitary sclerosis!
- Epilepsy syndromes in cerebral palsy: varied, evolving and mostly self-limited.
- MEGDEL Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2819(Orphanet)
- MONDO:0017275(MONDO)
- GARD:806(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
