Sleep apnea and hypoventilation syndrome associated with acquired nonprogressive dysautonomia: Clinical and pathological studies in a child

A 6-year-old girl had subacute onset of hypoventilation and apnea during sleep. Diffuse dysautonomic changes were identified, including dilated, nonreactive pupils, decreased tearing and sweating, and abnormal temperature and cardiovascular control. All-night polysomnographic studies revealed frequent obstructive and central sleep apnea episodes. Her serum contained cytotoxic antineuroblastoma immunoglobulins. She died two years later during sleep. The general pathological examination revealed a ganglioneuroma originating in the sympathetic ganglia. Abnormalities in the brain were confined to the brainstem and consisted of complete loss of neurons with severe fibrillary gliosis in the region of the Edinger-Westphal nuclei as well as loss of neurons with gliosis in the locus ceruleus and in the reticular formation bilaterally.