Background: Congenital hypothyroidism (CH), the most common preventable cause of mental retardation in children, may presents with non-specific signs and symptoms. Beside, majority of the infants can be asymptomatic. Underestimation and/or misdiagnosis may cause delay in diagnosis and results in severe complications.
Case report: A 5 months-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenital aganglionic megacolon. Investigations performed in our clinic revealed a diagnosis of congenital (primary) hypothyroidism due to thyroid agenesis. Histopathologic evaluation of previously resected colon sample showed a normal ganglionic cell included colon. During follow up she developed severe hyponatremia with a plasma sodium level of 106 mEq/l. Hyponatremia was first corrected using saline infusion, whereas, eunatremia can be maintained following achievement of euthyroid state. Hormonal and biochemical work up did not show any specific etiology for hyponatremia. Therefore, hyponatremia was suggested to be due to hypothyroidism.
Conclusion: Since presenting symptoms are variable and non-specific, for prompt diagnosis and proper management, congenital hypotyhroidism should be kept in mind in the differential diagnosis of neonates with persistent abdominal distention mimicking aganglionic megacolon and severe hyponatremia of unknown origin.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology