A 3½ year old with hypotonia, undescended testis and altered sensorium.

Clinical problem:
A 3½ year old boy presented with decreased intake of food, since 3 days, multiple episodes of vomiting since 1 day and fever and altered sensorium. Patient is a known case of bronchial asthma on inhaler therapy since 3 months. He underwent a right orchidopexy 1 month back. He had a generalized tonic clonic convulsion at 2½ years of age following an episode of loose motion. At that time, he was investigated with MRI brain that showed hypoglycemic insults, a urine aminoacidogram and plasma aminoacidogram which were normal and he had elevated liver enzymes with positive hepatitis A IgM. He had been on Phenytoin therapy since then. His birth history and immunization are normal. He had delayed motor development (standing achieved at 1½ years, walking at 2 years) but now his catch up milestones and social and speech milestones are normal. There was initially frequent falls on walking but now the frequency of falls has decreased. On examination, his vital parameters were normal. He was drowsy and has hypotonia in all the limbs. The deep tendon reflexes are normal. There are no meningeal signs, focal neurological deficit or other systemic abnormalities. He recovered in 24 hours but he continues to have hypotonia.
His baseline investigations showed hypoglycemia (RBS = 6 mg %) with normal electrolytes and normal liver enzymes and ammonia. He had elevated WBC count with normal platelets and hemoglobin. Peripheral smear for malarial parasite was negative. Blood gases after correction of dehydration showed metabolic acidosis [pH = 7.295, HCO3 = 13.2 mmoL/L]. His serum creatinine phosphokinase is normal.