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Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum
F J Cameron1, V V Khadilkar, R Stanhope
1Department of Endocrinology, Great Ormond Street Hospital for Sick Children NHS Trust. cameronf@cryptic.rch.unimelb.edu.au
Insights
Congenital midline brain defects in children often cause pituitary dysfunction, leading to metabolic issues, seizures, and developmental delays. Early diagnosis and management are crucial for improving outcomes and preventing severe complications.
Area of Science:
- Pediatric Endocrinology
- Neurodevelopmental Disorders
- Congenital Malformations
Background:
- Congenital midline brain defects are a group of structural anomalies affecting the central brain structures.
- Pituitary dysfunction in early childhood can significantly impact growth, metabolism, and neurological development.
- Optic nerve hypoplasia is frequently associated with midline brain abnormalities.
Purpose of the Study:
- To systematically review patients with congenital midline brain defects and pituitary dysfunction.
- To quantify the degree of pituitary dysfunction and assess clinical outcomes.
- To explore the relationship between neuro-anatomy and clinical manifestations.
Main Methods:
- Retrospective analysis of case notes from 40 patients.
- Inclusion criteria: pituitary dysfunction with midline cerebral anomaly and/or optic nerve hypoplasia.
- Categorization of defects included holoprosencephaly, septo-optic dysplasia, agenesis of the corpus callosum, and isolated pituitary hypoplasia.
Main Results:
- Common findings included early diagnosis, feeding difficulties, neurodevelopmental disability, visual impairment, and seizures.
- Seizures were often linked to metabolic disturbances like hypoglycemia or hypernatremia.
- Multiple pituitary hormone deficiencies were prevalent, particularly growth hormone and adrenocorticotropic hormone deficiencies.
- Hypotensive/hypoglycemic crises contributed to a significant portion of mortality.
Conclusions:
- Congenital midline brain malformations present a spectrum of neuro-anatomical and pituitary dysfunction.
- Clinical symptoms like convulsions and developmental delay can stem from metabolic and/or neuro-anatomical issues.
- Clinicians must recognize the complex neurological and metabolic nature of these conditions and their potential for mortality.
Unlabelled:
The purpose of this study was to review systematically a series of patients with congenital midline brain defects and pituitary dysfunction in early childhood and to quantitate the degree of dysfunction and clinical outcome. This study was a retrospective analysis of case notes of patients with pituitary dysfunction associated with either a midline cerebral anomaly and/or optic nerve hypoplasia. Forty patients were studied: 2 with semilobar holoprosencephaly, 2 with lobar holoprosencephaly, 18 with septo-optic dysplasia with an intact septum pellucidum, 7 with septo-optic dysplasia with an absent septum pellucidum, 7 with agenesis of the corpus callosum and 4 patients with isolated pituitary hypoplasia. An early age of diagnosis, feeding difficulties, neurodevelopmental disability, visual impairment and seizures were common occurrences. Despite disordered neuro-anatomy, most seizure disorders were caused by hypoglycaemia or hypernatraemia. Hypotensive/hypoglycaemic crises accounted for two out of three deaths within the study population. Most of patients had multiple pituitary hormone deficiency with growth hormone and adrenocorticotrophic hormone deficiency occurring most commonly. Unequivocal isolated hypothalamic dysfunction was an uncommon finding. In congenital midline brain malformation there is a spectrum of disordered neuro-anatomy associated with variable pituitary dysfunction. Clinical manifestations such as convulsions and developmental delay may be due to disordered metabolism and/or neuro-anatomy.
Conclusion:
Children with congenital midline brain defects frequently manifest convulsions, neurodevelopmental disability and poor growth due to disordered metabolism and/or neuro-anatomy. Treating clinicians must be aware of the complex, dynamic neurological and metabolic nature of these patients and their potential for early demise.