Endocrinopathies associated with midline cerebral and cranial malformations

J Pediatr. 2002 Feb;140(2):252-5. doi: 10.1067/mpd.2002.121822.

Abstract

We systematically reviewed a series of patients (n = 85) with midline cerebral and cranial malformations to correlate the endocrinopathy with the neuroanatomic defect. Midline cleft lip and palate was associated not only with growth hormone deficiency (GHD) but also with diabetes insipidus (DI); holoprosencephaly and optic nerve hypoplasia with absence of the septum pellucidum had a similar incidence of GHD and DI. Optic nerve hypoplasia with absence of the septum pellucidum had the highest incidence of multiple pituitary endocrinopathies and of neonatal hypoglycaemia. Unilateral, although more commonly bilateral, optic nerve hypoplasia was associated with GHD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Cleft Lip / complications*
  • Cleft Palate / complications*
  • Diabetes Insipidus / complications*
  • Endocrine System Diseases*
  • Female
  • Holoprosencephaly / complications*
  • Humans
  • Male
  • Optic Nerve / pathology*
  • Retrospective Studies
  • Telencephalon / abnormalities*