Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.
Indian Pediatr
;
2016 Oct; 53(10): 917-919
Artigo
em Inglês
| IMSEAR
| ID: sea-179275
ABSTRACT
Background:
Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy. Case 10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy.Outcome:
Sterol analysis and CYP27A1 sequencing confirmed the diagnosis.Message The condition should be considered in childhood onset cerebellar ataxia with cataracts, even in the absence of skin signs.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2016
Tipo de documento:
Artigo
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