Fanconi-Bickel syndrome.
We present here the first case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A 17-month-old female child presented with severe growth retardation and abdominal distention. Clinical examination revealed a "doll-like" face, massive hepatomegaly, and rickets. Laboratory investigations confirmed severe hypophosphatemic rickets and proximal renal tubular dysfunction. Liver biopsy showed glycogen accumulation in the hepatocytes.
Karande
Sunil
S
Developmental Clinic, Department of Pediatrics, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai 400 022, Maharashtra, India. karandesunil@yahoo.com
Kumbhare
Nilesh
N
Kulkarni
Madhuri
M
D000005:Abdomen / Q000503:physiopathology; D019587:Dietary Supplements; D005183:Failure to Thrive / Q000209:etiology; D053098:Familial Hypophosphatemic Rickets / Q000209:etiology; D005198:Fanconi Syndrome / Q000175:diagnosis*; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant