Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.

A Japanese infant presenting with vomiting, failure to thrive, metabolic acidosis, and hyperammonemia was finally diagnosed with autosomal recessive distal renal tubular acidosis (dRTA). Hyperchloremic metabolic acidosis, hypokalemia, a normal serum anion gap, a positive urine anion gap, nephrocalcinosis, and high urine pH despite systemic acidemia were consistent with the cardinal manifestations in dRTA. Mutational analysis of the ATP6V0A4 gene revealed novel compound heterozygous mutations: Ile549fsX580 and Ile557Leu558del.

Syndrome of resistance to thyroid hormone in an infant with congenital cytomegalovirus infection.

We describe an infant with congenital cytomegalovirus infection who developed the syndrome of resistance to thyroid hormone at three weeks of age, presenting with elevated thyroxine levels and non-suppressible thyroid-hormone-stimulating hormone secretions without any features of thyrotoxicosis. The resistance was present at the peripheral and pituitary levels and resolved spontaneously by 18 months of age. Cytomegalovirus infection was confirmed by the positive urine culture of this virus.