Sumarlee Srivuthana

Endocrine Abnormalities in Patients with Frontoethmoidal Encephalomeningocele

Background: Frontoethmoidal encephalomeningocele (FEEM) is a congenital neural tube defect which is more common in Southeast Asia. Its etiology is unknown. No one has ever reported endocrine abnormalities in this condition. Method: We retrospectively reviewed medical records of 84 patients with FEEM, primarily focused on the clinical data suggestive of endocrine disorders including growth parameter, thyroid function test, serum electrolyte and serum osmolality. Results: Nasoethmoidal was the most common subtype found in this study. Sixty-four percent of our patients had their heights below the mean height of normal Thai children. The incidence of hypothyroidism (1:28), central DI (1:42) and GHD (1:42) were higher than that in the general population. Conclusion: A significant number of patients with FEEM had clinical evidences suggestive of hypothalamopituitary insufficiency. Appropriate replacement therapy is mandatory in order to prevent untoward complications.

Pallister-Hall syndrome with hypoparathyroidism

We report on a 5 2/12 year-old boy who presented with convulsions, precocious puberty due to a 1.9 x 1.9 x 1.6 hypothalamic hamartoma of the tuber cinereum, and some dysmorphic features including polysyndactyly of hands and feet, suggesting the diagnosis of Pallister-Hall syndrome. Hypocalcemia due to hypoparathyroidism was demonstrated, and this combination has not been reported previously. Therefore, we can add hypoparathyroidism as another feature of Pallister-Hall syndrome.