Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.
Method: Retrospective casenote review of patients diagnosed with CNPAS between 2000 and 2013 in a tertiary paediatric unit.
Results: 20 patients (13F:7M) were identified. Sixteen were diagnosed during the neonatal period at median (range) age 10 (128) days of whom 13 needed surgical correction; while four patients diagnosed later at age 2, 6, 11, and 60 months were all managed conservatively. SCMMI was detected in 12 (60%) patients. Baseline endocrine investigations were performed in the neonatal period in 11/20 and MRI brain in 12/20 patients with 7/20 having both. Hypoplastic/ectopic posterior pituitary was identified in one patient, who was also found to have panhypopituitarism. Two patients were referred later for evaluation of short stature and investigated at ages 3 and 5 years, of which one had an ectopic posterior pituitary together with abnormal baseline endocrine function (IGF1). The other patient had normal pituitary on MRI but was also diagnosed with GH deficiency. Available height SDS data at 1 year on 60% of our patients identified both the late-diagnosed GH deficient patients, with SDS of −2.6 to −3.6 respectively.
Conclusion: CNPAS management requires a multi-speciality and consistent approach in evaluation of the endocrine axis. All CPNAS patients at diagnosis should have MRI brain and baseline endocrine investigations which will allow early recognition and treatment of pituitary insufficiency, minimising surgical risks. Growth monitoring for at least 1 year is recommended as height SDS at 1 year is a good predictor for pituitary function.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology