The IQ and neurodevelopmental quotients of 17 of 32 children with congenital central hypoventilation syndrome were determined at the Departments of Pediatrics and Psychology, Rush-Presbyterian-St. Luke’s Medical Center, Chicago, IL. Sleep hypoventilation was severe in all cases, with an alveolar carbon dioxide pressure of 62±2.5 mm Hg and a hemoglobin saturation of 65%. Seizures were associated in 72%, pulmonary hypertension in 78% and mild cerebral atrophy in 40%. All patients were hypotonic or had major motor delays. Autopsy performed in 6 cases showed diffuse central nervous system astrocytosis, gliosis, and atrophy but no brain-stem abnormality. The IQ and developmental quotients varied from greater than the 85th percentile to less than the 5th percentile, with verbal and performance discrepancies. The data support a diffuse central nervous system process but the possible effects of transient hypoxemia on neurodevelopmental test results could not be definitely determined. [1]

COMMENT. Congenital central hypoventilation syndrome, characterized by absent ventilatory and arousal sensitivity to hypercapnia and variable sensitivity to hypoxemia, has been reported with Hirschsprung disease, neural-crest tumors, and mild cerebral atrophy on CT or MRI. Many require ventilatory support particularly while asleep. Seizures and neurodevelopmental delays may bring these patients to the attention of the pediatric neurologist.

The effects of phenobarbital on sleep behavior in children with febrile seizures were evaluated by Hirtz DG, Farwell JR et al. at Bethesda, MD and Seattle, WA [2]. Night awakenings were not more common in children on phenobarbital except for those who were poor sleepers initially. Lengthy night awakenings were not more frequent and total sleep time was not altered. At least one behavioral disturbance previously assigned to the use of phenobarbital in the prophylaxis of febrile seizures has been negated by this study.

Home J from the Sleep Research Laboratory, Loughborough University, Leicestershire, U.K. discusses epilepsy in sleep in a paper on sleep and its disorders in children [3]. In addition to febrile convulsions and benign rolandic childhood epilepsy, other paroxysmal disorders that occur during sleep include the complex partial seizures of frontal origin, usually misdiagnosed as nightmares (Stores G, 1991) and sometimes referred to as “nocturnal paroxysmal dystonia” (Lugaresi et al. 1986).