Recurrent Vomiting in Young Infant: A Challenge

Background: Recurrent vomiting in infants may have several etiologies. Among the most common medical causes are gastroenteritis, urinary tract infections or CNS infections. Besides that, surgical causes such as hypertrophic pyloric stenosis or intestinal obstruction should also be considered. Therefore, diagnosis is not always easy and may require extensive research.

Case Report: Two-months-old male, with previous history of reccurent vomiting, observed in the emergency department with vomiting, poor weight gain, and asymptomatic hyponatremia. Family history of hypothyroidism and rheumatoid arthritis. At physical examination, he was hydrated and hemodynamically stable.

Blood tests showed Hb 11.7 g/dL, Ht 34.6%, WBC 20510 U/L, N 28.6%, L 59.1%, Na + 120 mmol / L, K + 6.94 mmol / L and the abdominal ultrasound was normal.

He was admitted for IV hydration and correction of hyponatremia.

From the additional investigation performed, the most common causes of vomiting were excluded, as well as tubulopathies, SIADH and hypothyroidism. The diagnosis of congenital hyperplasia of the adrenal gland was considered the most likely, and lately confirmed.

He started therapy with hydrocortisone, and then transferred to a tertiary hospital (Endocrinology Unit) for further care.

Conclusion: With this case the authors aim to draw the attention to a less common cause of recurrent vomiting in young infants. Congenital adrenal hyperplasia is an inherited autosomal recessive disease, caused by the deficiency of enzymes involved in cortisol synthesis. About 95% of cases are caused by 21-OH deficit. In the neonatal period, the diagnosis can be suspected in the presence of sexual ambiguity or acute salt-losing crisis. Treatment is essential to ensure appropriate growth, puberty and absence of long-term complications.