title: Krabbe disease--clinical profile.
abstract: OBJECTIVE
  To study clinical features and investigations of children with Krabbe Disease (KD).
  
  
  METHODS
  Retrospective.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Genetics Division, Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai 400 012, Maharashtra, India.
authors.forename: M S
authors.initials: MS
authors.lastname: Tullu
authors.forename: M N
authors.initials: MN
authors.lastname: Muranjan
authors.forename: P P
authors.initials: PP
authors.lastname: Kondurkar
authors.forename: B A
authors.initials: BA
authors.lastname: Bharucha
mesh_terms: D017677:Age Distribution; D002648:Child; D002675:Child, Preschool; D003906:Developing Countries; D005260:Female; D006801:Humans; D015994:Incidence; D007194:India / Q000453:epidemiology; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000453:epidemiology*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D011379:Prognosis; D012189:Retrospective Studies; D012307:Risk Factors; D017678:Sex Distribution