Fanconi-Bickel syndrome.
Indian Pediatr
;
2007 Mar; 44(3): 223-5
Article
in English
| IMSEAR
| ID: sea-14118
ABSTRACT
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Female
/
Humans
/
Glycogen Storage Disease
/
Dietary Supplements
/
Abdomen
/
Familial Hypophosphatemic Rickets
/
Failure to Thrive
/
Fanconi Syndrome
/
Hepatomegaly
/
Infant
Language:
English
Journal:
Indian Pediatr
Year:
2007
Type:
Article
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