Krabbe disease--a case report.
Krabbe disease is an extremely rare condition with an incidence of 1 in 1,00,000 live births. It is caused by deficient activity of the Iysosomal hydrolase galactosylceramide beta-galactosidase. A 6 years old male weighing 12 kg, was brought to Rajah Muthiah Medical College and Hospital with complaints of convulsions. The full-term child was delivered by lower segment caesarean section to second-degree consanguineous parents. The baby cried immediately after birth. The child attained normal milestones till two years of age. Thereafter he lost his attained milestones. The child had dysmorphic face with features like anti-Mongoloid eyes and teeth anomaly. Skin was lax all over the body especially over the face and was bruised. Respiratory distress and upward gaze were present. Bilateral crepitations were heard. Pupils were dilated and sluggishly reacted to light.
Division of Paediatrics, Rajah Muthiah Medical College and Hospital, Annamalai Nagar 608002.
Priyankur
P
Roy
S
S
Chidambaranathan
S
S
Ramesh
D002648:Child; D005698:Galactosylceramidase / Q000378:metabolism*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000201:enzymology* / Q000503:physiopathology; D008297:Male; D035583:Rare Diseases
D005698:Galactosylceramidase