Chapter 11a: Pituitary and hypothalamic tumour syndromes in childhood

Central nervous system (CNS) tumours are the second commonest childhood malignancy. and survial has increased as a result of improved multimodality cancer therapies and better supportive care. Measurements of PRL, AFP and β-hCG are essential prior to commencement of any therapy. Craniopharyngiomas and low grade gliomas account for most tumors, while pituitary adenomas are rare. Non-neoplastic masses include pituitary hyperplasia and Rathke’s cleft cysts. Neurological syndromes and endocrine dysfunction must be recognized both before treatment and after. Both the original tumor and its treatment may disturb GH secretion, cause gonadotophin deficiency, or Posterior Pituitary Dysfunction, and less commonly reduce thyroid or adrenal function. The “hypothalamic syndrome” including variable hypothalamic dysfunction and morbid obesity is a common sequelae of surgical treatment, presumably caused by dysregulation of anorexigenic and orexigenic hormone signals

Treatment-resistant pediatric giant prolactinoma and multiple endocrine neoplasia type 1

Background Pediatric pituitary adenomas are rare, accounting for <3 % of all childhood intracranial tumors, the majority of which are prolactinomas. Consequently, they are often misdiagnosed as other suprasellar masses such as craniopharyngiomas in this age group. Whilst guidelines exist for the treatment of adult prolactinomas, the management of childhood presentations of these benign tumors is less clear, particularly when dopamine agonist therapy fails. Given their rarity, childhood-onset pituitary adenomas are more likely to be associated with a variety of genetic syndromes, the commonest being multiple endocrine neoplasia type 1 (MEN-1). Case description We present a case of an early-onset, treatment-resistant giant prolactinoma occurring in an 11-year-old peripubertal boy that was initially sensitive, but subsequently highly resistant to dopamine agonist therapy, ultimately requiring multiple surgical debulking procedures and proton beam irradiation. Our patient is now left with long-term tumor- and treatment-related neuroendocrine morbidities including blindness and panhypopituitarism. Only after multiple consultations and clinical data gained from 20-year-old medical records was a complex, intergenerationally consanguineous family history revealed, compatible with MEN-1, with a splice site mutation (c.784-9G > A) being eventually identified in intron 4 of the MEN1 gene, potentially explaining the difficulties in management of this tumor. Genetic counseling and screening has now been offered to the wider family. Conclusions This case emphasizes the need to consider pituitary adenomas in the differential diagnosis of all pediatric suprasellar tumors by careful endocrine assessment and measurement of at least a serum prolactin concentration. It also highlights the lack of evidence for the optimal management of pediatric drug-resistant prolactinomas. Finally, the case we describe demonstrates the importance of a detailed family history and the role of genetic testing for MEN1 and AIP mutations in all cases of pediatric pituitary adenoma

When stars are in the quiet skies /

In bound volumes: Copyright Deposits 1820-186

When stars are in the quiet skies /

In bound volumes: Copyright Deposits 1820-186