Introduction: Hypopituitarism leads to one or more pituitary hormones deficiency. Hypopituitarism can be congenital or acquired. The incidence of congenital hypopituitarism is between 1 in 4000 and 1in 10 000 live births. Children with congenital hypopituitarism may present with hypoglycemia, hyponatremia, shock, micro phallus in males, and later present with growth failure. It can be due to congenital or acquired causes. Adamantinomatous type craniopharingioma is a relatively rare childhood tumor with the prevalence of 6%- 10% of all intracranial tumours. Even though craniopharingioma is a childhood tumour, embryonic cell proliferation can occur even in the antenatal period. Congenital craniopharingioma is a very rare suprasella brain tumour which constitute around 0.51.5% of all congenital tumours. Tumour location and it's pressure effects lead to pituitary hypo function and visual disturbance. Nine cases of antenataly diagnosed craniophrigiomas have been reported in the literature. We report the first case of congenital craniopharingioma in Sri Lanka presenting with hypopituitarism.
Case History: A Baby boy was referred due to micro phallus. He had uncomplicated antenatal period. His birth weight was 2.9 kg. He had neonatal jaundice. There was no hypoglycemia. Occipitofrontal circumference was in the fiftieth centile. He didn't have midfascial hypoplasia. Eye examination was normal. His phallus was 2cm with bilateral hypoplastic scrotal sacs with atrophic small testis.
Biochemical investigations revealed multiple pituitary hormone deficiency. Leutinizing hormone (LH) and follicular stimulating hormone (FSH) were low. In addition, he had low basal cortisol (22nmol/l) with poor response to short synacthan test. But his thyroid functions were normal. He was started on oral hydrocortisone replacement therapy. MRI brain was scheduled at the age of 1 year.
At 11 months he presented with features of increased intracranial pressure. MRI brain showed solid and cystic mass involving the sella and suprasella region with obstructive hydrocephalus. Pituitary gland and optic chiasma were not separately seen. He underwent excision of the craniopharingioma. Following surgery he needed multiple pituitary hormones replacement. He had developemental deterioration and visual impairment post opertively . Radiotherapy was not given due small age.
Conclusion: This case highlights the very rare congenital cause of hypopituitarism. Antenatal and early postnatal imaging with the ultra sound brain would help in the early diagnosis. Total resection is the treatment modality. Even with improving neurosurgical technology, prognosis is poor due to the age, size and location of the tumour. Congenital craniopharyngioma leading to hypopituitarism need coordinated care with multiple specialties.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology