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).