Case History/ Examination

A 3-month-old male infant was brought to the emergency department with a two-day history of poor feeding, lethargy, and recurrent abnormal body movements. These movements were described as tonic-clonic seizures affecting all four limbs, lasting a few minutes per episode, and were not followed by postictal drowsiness. The mother reported prior episodes of fever and respiratory distress. On further inquiry, perinatal complications were noted, including delayed crying at birth, for which the infant received a 14-day course of antibiotics. The neonatal period was also marked by jaundice and neck swelling. He also had a significant family history of born from consanguineous parents (third-degree relatives). The infant had achieved normal developmental milestones until the current illness. However, a significant family history of consanguinity between the parents and a maternal uncle with a history of seizures was noted. The uncle reportedly died in his early twenties due to unknown causes. On admission to the Pediatric Intensive Care Unit (PICU), the infant required intubation and mechanical ventilation due to recurrent seizures and severe metabolic acidosis. The neurological examination revealed an initial Glasgow Coma Scale (GCS) score of 13/15, which later deteriorated to 9/15. Pupillary reflexes were bilaterally reactive, and there were no signs of bradycardia, meningismus, or papilledema. Respiratory findings included a respiratory rate of 25 breaths per minute, symmetrical air entry, and oxygen saturation of 100% on room air. Cardiovascular examination revealed normal heart rate, blood pressure, and peripheral pulses, with a capillary refill time of less than two seconds. Gastrointestinal and genitourinary examinations were unremarkable, with normal bowel sounds and adequate urine output (1.25 mL/kg/hour).