FANCONI BICKEL SYNDROME- DIAGNOSTIC DILEMMAS AND CONTINUING MANAGEMENT CHALLENGES IN INDIAN SCENARIO
Journal Title: Stanley Medical Journal - Year 2017, Vol 4, Issue 1
Abstract
Fanconi Bickel syndrome (FBS) is a rare type of Glycogen storage disorder (TYPE XI) characterized by Hepatorenal glycogen accumulation, proximal renal tubular acidosis with Impaired glucose utilization. Though western world has reports of these cases, there is paucity of such literature from India. Here we report a 10-year-old boy who presented at 3 years of age with Delayed milestones, seizures, abdominal distension and limb deformities. Examination showed short stature, doll like facies, florid rickets and massive hepatomegaly. Investigations confirmed the diagnosis of FBS by fasting hypoglycemia, hypophosphatemic rickets, glycogen-laden hepatocytes and proximal RTA. Following great ordeal for the diagnosis, management of his multiple metabolic problems posed several challenges due to no availability of readymade supplements in India which are freely available in the west . To maintain a delicate balance of urine pH, electrolytes, calcium and phosphorus a tailor made adjustments of dosages of bicarbonates, Joulie’s solution had to be made. His resistant hypoglycemia required frequent meals and cornstarch feeds. Currently at 10 years of age his hypoglycemia and RTA are settled but his Short stature and rickets are still persisting. Here we highlight the challenges faced right from diagnosis until specific management strategies and also the successful follow-up of the child for the last 7 years.
Authors and Affiliations
Anitha P, Elayaraja S, Vignatha Sajja Nekkanti, Latha Ravichandran, Umapathy P, Sasitharan R
Keywords
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