ESPE Abstracts

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal function were normal, prolactin wasn’t raised, IGF-1 was in normal range for age and sex, no hypercalcemia was detected, FSH and LH were mildly increased in concordance with her pubertal development (Tanner stages P4, B4). Patient 2 was born small for gestational age; during infancy she presented failure to thrive, dysmorphic features and mild neurodevelopmental retardation. Diagnosis of WS was made when the girl was 20 months old. Echocardiogram was normal. Later, growth hormone deficiency was diagnosed. At the age of 10 years Tanner stage were P1, B2; LH and FSH mildly increased. At that age cerebral MRI showed a lesion 5 mm large sited at the anterior side of the pituitary stalk at an intra-suprasellar level. Thyroid and adrenal function were normal, no hypercalcemia was measured, prolactin was in range. Both patients didn’t complain visual problems nor headache. Up to today, radiological follow-up has been indicated for both girls.

Discussion: Pituitary adenomas (PAs) are rare in pediatric age; only 3.5-8.5% of all PAs are diagnosed prior to the age of 20 years. The reported prevalence in children is 1 per million. Their frequency increases during adolescence but PAs remains approximately only 3% of all diagnosed intracranial tumors in childhood. Only 2-6% of treated pituitary tumors occur in children. Microadenoma are more common than macroadenoma; non secreting-adenomas are less common than secreting adenomas with different percentages according to the reported series. Growth delay could be an early symptom and should be promptly detected. PAs represent an incidental finding in 0.2% of children undergoing brain imaging. PAs are described in some familial syndromes caused by germline genetic defects; also some somatic genetic defects have been described associated with PAs. To the best of our knowledge, PAs have not been described yet in association with Williams syndrome.

Conclusions: Growth delay, visual disturbances, headache or endocrine disorders could suggest PAs diagnosis. Further investigations are needed to understand the possibility of a correlation between PAs and WS.