Krabbe disease--clinical profile.
Indian Pediatr
;
2000 Sep; 37(9): 939-46
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Prognosis
/
Female
/
Humans
/
Male
/
Magnetic Resonance Imaging
/
Child
/
Child, Preschool
/
Incidence
/
Retrospective Studies
/
Risk Factors
Type of study:
Etiology study
/
Incidence study
/
Observational study
/
Prognostic study
/
Risk factors
Country/Region as subject:
Asia
Language:
English
Journal:
Indian Pediatr
Year:
2000
Type:
Article
Similar
MEDLINE
...
LILACS
LIS