Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum

The purpose of this study was to review systematically a series of patients with congenital midline brain defects and pituitary dysfunction in early c hildhood and to quantitate the degree of dysfunction and clinical outcome. This study was a retrospective analysis of case notes of patients with pitu itary dysfunction associated with either a midline cerebral anomaly and/or optic nerve hypoplasia. Forty patients were studied: 2 with semilobar holop rosencephaly, 2 with lobar holoprosencephaly, 18 with septo-optic dysplasia with an intact septum pellucidum. 7 with septo-optic dysplasia with an abs ent septum pellucidum, 7 with agenesis of the corpus callosum and 4 patient s with isolated pituitary hypoplasia. An early age of diagnosis, feeding di fficulties, neurodevelopmental disability, visual impairment and seizures w ere common occurrences. Despite disordered neuro-anatomy, most seizure diso rders were caused by hypoglycaemia or hypernatraemia. Hypotensive/hypoglyca emic crises accounted for two out of three deaths within the study populati on. Most of patients had multiple pituitary hormone deficiency with growth hormone and Adreo corticotrophic hormone deficiency occurring most commonly . Unequivocal isolated hypothalamic dysfunction was an uncommon finding. In congenital midline brain malformation there is a spectrum of disordered ne uro-anatomy associated with variable pituitary dysfunction. Clinical manife stations such as convulsions and developmental delay may be due to disorder ed metabolism and/or neuro-anatomy. Conclusion Children with congenital midline brain defects frequently manife st convulsions, neurodevelopmental disability and poor growth due to disord ered metabolism and/or neuro-anatomy. Treating clinicians must be aware of the complex, dynamic neurological and metabolic nature of these patients an d their potential for early demise.