Optic hypoplasia with pituitary dwarfism (Kaplan-Grumbach-Hoyt syndrome, or DeMorsier syndrome).
A case of a 14-year-old boy with optic hypoplasia and pituitary dwarfism was presented. Eye Examination showed typical hypoplasia of the left optic nerve and mild hypoplasia of the right optic nerve. Except for dwarfism and nystagmus, the appearance of the patient was not unusual. Computed tomography revealed an enlargement of the suprachiasmatic cistern, and the presence of the septum pellucidum. The pituitary function tests revealed complete deficiency in GH, and poor or intermediate secretion in ACTH, TSH, PRL, LH and FSH. Urine volume and specific gravity were normal. Therapy with human growth hormone has been successful. It was indicated that hypopituitarism was probably of hypothalamic origin and early recognition of the syndrome is important in view of the possibility of treating growth retardation in some blind, or near blind children.
D000293:Adolescent; D001827:Body Height; D001846:Bone Development; D004393:Dwarfism, Pituitary / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D006801:Humans; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed