Cerebral midline developmental anomalies: endocrine, neuroradiographic and ophthalmological features.

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 approach.