Optic nerve hypoplasia associated with absent septum pellucidum and hypopituitarism.
Five children had bilateral optic nerve hypoplasia, absent septum pellucidum, and hypopituitarism. Absence of the septum pellucidum was shown by computed axial tomography. All of the children were first-born. One of the children was definitely not mentally retarded and one at age 7 months was developing normally. All of the children had severe visual impairment and nystagmus. Pupillary responses varied. Ocular deviations included one with exotropia and three with esotropia. The extent of pituitary hormone deficiency varied. One child was symptomatic from birth, having severe hypoglycemia and seizures. Two children had prolonged neonatal jaundice. One unusual case had growth hormone deficiency with a normal growth curve. Another child with diabetes insipidus had dehydration and polyuria without polydipsia.
D000328:Adult; D001722:Birth Order; D001766:Blindness / Q000150:complications; D002648:Child; D002675:Child, Preschool; D003919:Diabetes Insipidus / Q000150:complications; D004948:Esotropia / Q000150:complications; D005260:Female; D006801:Humans; D007018:Hypopituitarism / Q000150:complications*; D007223:Infant; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000150:complications; D008297:Male; D009759:Nystagmus, Pathologic / Q000150:complications; D009900:Optic Nerve / Q000002:abnormalities*; D011247:Pregnancy; D012688:Septum Pellucidum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013285:Strabismus / Q000150:complications; D013577:Syndrome; D014057:Tomography, X-Ray Computed