Case Report
A 2-year-old female patient was admitted to our hospital
with fever, vomiting, diarrhea and stupor. There was no history
of psychomotor retardation nor recurrent bouts of acute
encephalopathy before hospitalization. There was a first-degree
consanguinity between the parents and a family history of
multiple deaths with unknown etiology.
At initial assessment, the patient was lethargic and
dehydrated with marked Kussmaul breathing. Blood glucose
level was 334 mg/dL. Blood gas analysis revealed severe