Case 1: Seizures and Rashes Do Run in the Family

Presentation

A term female infant is born by spontaneous delivery at 40 2/7 weeks’ gestational age with a birthweight of 3,560 g (50th percentile) and a head circumference of 34.5 cm (50th percentile) to a 25-year-old primigravida. The parental history and the course of the present pregnancy are unremarkable. The infant is born by spontaneous normal vaginal delivery. Her Apgar scores are 8 and 10 at 1 and 5 minutes, respectively. At the age of 43 hours, tonic-clonic movements of the right hand and leg are observed, during which she is completely conscious. The physical examination reveals an erythematic rash on the lower abdomen and lower limbs, which appear and fade (Fig 1), and a small area of alopecia on the right parietal side of the head (Fig 2). The rest of the physical examination findings are normal. Under a presumed diagnosis of neonatal seizures, both basic and extended investigations are undertaken, including infectious, metabolic, hematologic, and endocrinologic tests. Broad-spectrum antibiotics and acyclovir are initiated. The focal seizures worsen, become generalized, and are accompanied by episodes of apnea, deep desaturation, and bradycardia. They cease after second-line levetiracetam is added to the initial phenobarbital treatment. A single dose of pyridoxine (vitamin B6) is also given, with no change in the clinical condition.

The complete blood cell count and the C-reactive protein levels are normal, as are the blood and cerebrospinal fluid (CSF) chemistries. Blood gases, basic …