title: Glycogen storage disease 1a with piebaldism.
abstract: A 3 and half years old male child born by consanguineous marriage presented with white forelock and symmetric hypopigmented areas  present since birth, similar to his mother and elder sister.  Hepatomegaly was noticed at one year of age. Liver biopsy revealed enlarged pale hepatocytes distended with glycogen. Skin biopsy revealed absence of melanin pigment in white depigmented skin. G727T gene splice mutation was diagnosed in exon 5 of 17q21 chromosome.
authors.affiliation: Department of Pediatrics and Cardiology, Calcutta National Medical College, Kolkata, India. bhaswatighoshalmailme@yahoo.com
authors.forename: Bhaswati
authors.initials: B
authors.lastname: Ghoshal
authors.forename: Nirmalya
authors.initials: N
authors.lastname: Sarkar
authors.forename: Mala
authors.initials: M
authors.lastname: Bhattacharjee
authors.forename: Rabindra
authors.initials: R
authors.lastname: Bhattacharjee
mesh_terms: D002675:Child, Preschool; D005953:Glycogen Storage Disease Type I / Q000473:pathology*; D006801:Humans; D008297:Male; D016116:Piebaldism / Q000473:pathology*