Norman‐Roberts syndrome

Abstract

This 3-month-old Caucasian boy, son of nonconsanguineous parents was seen by us for evaluation of microcephaly. His 16-year-old mother smoked during pregnancy but did not consume alcohol or drugs. At 16 wk gestation, she was in a car accident and was "tossed around a lot," but did not sustain any obvious injuries. At about the same time she developed a sore throat with cervical lymph node swelling.The infant was born 3 wk post-term by cesarean section, done for face presentation. Microcephaly was noted at birth. At the time of evaluation, head circumference was below the third centile, while length and weight were normal. As seen in Figure la, b, he had a sloping forehead, prominent occiput, nearly closed sutures with ridging, bitemporal grooving, posteriorly angulated ears, micrognathia, and prominent nasal bridge with wide-set eyes. No other systemic abnormalities were present.Neurologically, the infant was severely delayed in psychomotor development, unable to see or hear, had optic atrophy, feeding problems, spasticity of all limbs, and episodes of opisthotonic arching and infantile spasms. Skull films confirmed that most of the sutures were closed. CT scan showed reduced number of sulci and gyri, with failure of opercularization of the insula and partial absence of the septum pellucidum. Calcification was noted in the periventricular region. A burst-suppression pattern was seen on EEG. Results of high-resolution chromosome studies and thyroid and adrenal function tests were normal. He had chronic hyponatremia, which was considered to be due to osmoregulator dysfunction. Spinal fluid examination, serology, and TORCH titers were normal.