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Cerebral Midline Developmental Anomalies: Endocrine, Neuroradiographic and Ophthalmological Features by S.R.R. Antonini; A. Grecco Filho; L.L.K. Elias; A.C. Moreira; Μ. Castro is a Medicine article available to read on EtoBox.

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## Background: Hypopituitarism may occur in patients with midline cerebral defects (MCD), including septo-optic dysplasia (SOD). HESX1 gene mutations have been associated with SOD. Objective: To evaluate the endocrine, ophthalmological and neuroradiographic abnormalities in 18 patients with MCD and SOD without mutations at the HESX1 locus. ## Study design: 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. Results: 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. Conclusions: Our data support the need for systematic and periodic endocrine evaluation of patients with MCD using a multidisciplinary approa

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Author

S.R.R. Antonini; A. Grecco Filho; L.L.K. Elias; A.C. Moreira; Μ. Castro

Publisher

Walter de Gruyter GmbH

Published

2002

Language

EN

Field

Medicine (Health Sciences)