Prader-Willi syndrome with epilepsy with acute metabolic derangements

A girl of 7 and half years presented in gasping with obesity, uncounciousness with a history of gastroenteritis. She was on Sodium Valproic Acid for the last 5 years for siezure disorder. Her CT Scan at 2 and half year showed cerebral atropy due to hypoxic ischaemic encephalopathy.

She was extremely obese and short statured, had developmental delay and mental retardation. But her facial dysmorphismis not marked and she had no polydyctaly.

Labratoty finding shows sodium-187 meq/L, potassium-2.3 meq/L, cl, HCO,glucose and Ca normal.

The patient was lebelled as Prader-Willi Syndrome with epilepsy and acute metabolic derangement.

The patient was intubated, fluid was appropriated, dopamine and dolbutamine was given, antibiotic and anticonvulsive were added

Bdoza