Septo-optic dysplasia in two siblings

Septo-optic dysplasia involves various developmental anomalies affecting the midline of the brain. These anomalies include incomplete development of the optic nerve and possibly pituitary gland insufficiency, and can result in blindness. Depending on the severity of optic nerve abnormality, vision can range from no light perception to nystagmus (involuntary rhythmic eye movements), strabismus (cross-eyed), and, rarely, only a slight reduction in vision, such as 20/30 vision. A review of published reports reveals that approximately two-thirds of patients with septo-optic dysplasia have some type of pituitary insufficiency. In 42 percent of cases describing neurologic status, one or more nonpituitary neurologic deficits was also reported. Seizures, delays in psychomotor development, and mental retardation were the most commonly reported abnormalities. The cases of a brother and sister treated for septo-optic dysplasia are presented. The first patient, a girl, was first seen at 5 months of age because of suspected vision impairment. The pregnancy had been uneventful. Eye examination revealed no response to light. Although initial thyroid function studies were normal, by 23 months of age the child was hypothyroid. She was unable to roll over, but could control her head movements. At 17 months she developed seizures. The brother, born when the sister was 3.5 years old, was suspected of having visual problems at 10 weeks of age. Reaction to light was absent and the diagnosis of septo-optic dysplasia was made. At nine months of age, he developed seizures. Growth hormone abnormality was suspected. The occurrence of this disorder within the same family suggests the possibility of autosomal-recessive inheritance. (Consumer Summary produced by Reliance Medical Information, Inc.)