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.