Krabbe disease--clinical profile.
Indian Pediatr
;
2000 Sep; 37(9): 939-46
Artigo
em Inglês
| IMSEAR
| ID: sea-6894
ABSTRACT
OBJECTIVE:
To study clinical features and investigations of children with Krabbe Disease (KD).DESIGN:
Retrospective.SETTING:
Genetic Clinic of a tertiary care teaching hospital.METHODS:
Hospital records of patients with enzymatically confirmed KD were analyzed with respect to their clinical features and investigations including neuroimaging (CT-scan and/or MRI). Galactocerebrosidase (GALC) activity was estimated photometrically in the peripheral blood leukocytes.RESULTS:
Nine children (age ranging from 2 1/2 months to 8 years) were studied, of which 5 had the classical infantile disease, 3 had late infantile form and one was diagnosed as juvenile KD. GALC levels in peripheral blood leukocytes were low or absent in all. Most of the children with infantile disease presented with neurodegeneration, seizures or fever. Optic atrophy was uncommon in our series (present only in a single case). Majority of the cases had elevated cerebrospinal fluid (CSF) protein levels and peripheral neuropathy on nerve conduction (NC) studies. Findings typical of KD were noted in 7 patients who underwent magnetic resonance imaging (MRI). The sole patient with juvenile disease presented with developmental delay and progressive spastic quadriparesis.CONCLUSION:
Krabbe disease should be considered in the differential diagnosis of early infantile onset of neurodegeneration with seizures. Likewise, older children with progressive ataxia or spastic quadriparesis in whom the etiology remains obscure, must be investigated for Krabbe disease. MRI can be diagnostic in absence of availability of enzyme diagnosis.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Prognóstico
/
Feminino
/
Humanos
/
Masculino
/
Imageamento por Ressonância Magnética
/
Criança
/
Pré-Escolar
/
Incidência
/
Estudos Retrospectivos
/
Fatores de Risco
Tipo de estudo:
Estudo de etiologia
/
Estudo de incidência
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2000
Tipo de documento:
Artigo
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