RESUMO
Primary hyperoxaluria (PH) Type 1 is a rare, genetic disorder caused by deficiency of the liver enzyme alanine-glyoxylate aminotransferase, which is encoded by AGXT gene. We report a 2-year-old South Indian Tamil child with nephrocalcinosis due to PH Type 1, in whom a homozygous genotype for two missense mutations in the AGXT gene was found: first, a C to G transversion (c. 32C>G) in exon 1 resulting in the amino acid substitution p.Pro11Arg; second, a T to A transversion (c. 167T>A) in exon 2 resulting in p.Ile56Asn. A therapy based on potassium citrate and pyridoxine was started. This is the first report of molecular testing-proven childhood onset-PH Type 1 from South India and is notable for the co-occurrence of two missense mutations in one AGXT allele, which might lead to different and more severe phenotype than each mutation alone. To the best of our knowledge, AGXT allele carrying two already known mutations has not been previously reported.
RESUMO
Melioidosis is an uncommon tropical infectious disease caused by Burkholderia pseudomallei. Neurological complications of melioidosis are extremely uncommon in infants. A 10-month-old girl is described who presented with disseminated melioidosis with subcutaneous nodules, arthritis, hepatomegaly and a lung cavity, and developed a left medial rectus palsy. Cranial MRI demonstrated mid-brain, pontine and basal ganglia micro-abscesses. Therapy with meropenem and cotrimoxazole led to resolution of the medial nerve palsy. At 5-month follow-up, the child had no residual neurological deficits.
