Patient and observation
The patient was born in Tunisia to second cousins with no significant health problems. The pregnancy was easy. However, prenatal follow-up showed ectopic dilation of the congenital kidney. Despite these challenges, the baby was born naturally without any complications. His father’s uncle, as well as the cousin of the mother, had epilepsy as children, and his aunt was deaf and mute.
Four months after birth, the patient was experiencing involuntary muscle spasms, uncontrollable muscle contractions of the neck, head, and trunk, and extended arms and legs that were not controlled. He was referred to the hospital to undergo further examination and treatment. A cranial magnetic resonance scan (CMRI) identified the presence of cortical atrophy but no brain malformations. A cerebrospinal CT scan showed bilateral supra - and infra-tentorial bursitis. Electroencephalogram (EEG) identified hypsarrhythmias, and psychomotor slowing was observed during this time. Treatment consisted of phenobarbital as well as vigabatrin to manage spasms.
At the age of five months, the baby began to experience epileptic seizures, which required 24 days at the Neuro-pediatric department to receive treatment with vigabatrin and topiramate, and B6 vitamin. At seven months old, the patient presented with status epilepticus and required hospitalization for one month.
At nine months old, the patient suffered seizures characterized by eyelid myoclonia, irregular facial movements, lateral head tilt, eye deviation, an increased fever, and worsening general status. Initially, it was believed that myocarditis could be the diagnosis due to hepatomegaly, fever, and raised ESR; however, the Echocardiogram and troponin results were both normal. In the following days, the infant was diagnosed with an epileptic status that was resistant to treatment, with fever but without any signs of trauma, intoxication, infection, or poor compliance to treatment with pharmaceuticals. The infant was taken to a hospital and treated with intubation,ventilation, and sedation. The laboratory tests found no anomalies except for mildly elevated levels of ammonium. Eight days after admission, the patient experienced severe hyperammonemia, hypoglycemia, and metabolic acidosis. The analysis of organic acids in the urine showed increased excretion of 2-ketoglutaric and lactic acids and a slight increase of 2-ketoadipic acids. Unfortunately, the patient died from acute respiratory distress syndrome and heart failure.