Cerebral Midline Developmental Anomalies: Endocrine, Neuroradiographic and Ophthalmological Features

• Published in: Journal of Pediatric Endocrinology and Metabolism Vol. 15; no. 9; pp. 1525 - 1530
• Main Authors: Antonini, S.R.R., Filho, A. Grecco, Elias, L.L.K., Moreira, A.C., Castro, Μ.
• Format: Journal Article
• Language: English
• Published: Germany De Gruyter 01.11.2002
• Subjects: Adolescent; Brain - abnormalities; Child; Child, Preschool; Endocrine System Diseases - etiology; Female; Gonadotropin-Releasing Hormone - pharmacology; Humans; Hypopituitarism - etiology; Hypothalamus - abnormalities; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Pituitary Gland - abnormalities; Septo-Optic Dysplasia - etiology
• ISSN: 0334-018X; 2191-0251
• DOI: 10.1515/JPEM.2002.15.9.1525

Hypopituitarism may occur in patients with midline cerebral defects (MCD), including septo-optic dysplasia (SOD). HESX1 gene mutations have been associated with SOD. To evaluate the endocrine, ophthalmological and neuroradiographic abnormalities in 18 patients with MCD and SOD without mutations at the HESX1 locus. The diagnosis of hypothalamic and pituitary abnormalities was confirmed by clinical findings and basal hormone values or functional tests. All patients underwent ophthalmological examination and neuroradiologic studies by MRI. The diagnosis of hypothalamic and pituitary abnormalities varied from 3 days to 13 years. Endocrine abnormalities were found in 88% of the patients: GH deficiency (72%), hypothyroidism (66%), hypogonadism (45%), diabetes insipidus (27%), adrenal insufficiency (10%), and precocious puberty (5%). Psychomotor retardation was observed in 55% and seizures in 22%. Visual status varied from normal to blindness. MRI confirmed heterogeneous intracranial malformations. Our data support the need for systematic and periodic endocrine evaluation of patients with MCD using a multidisciplinary approach.