3 days ago
Infant with rare genetic disorder gets life saving treatment
Vadodara: An infant boy from Panchmahal district got a new lease of life after he was diagnosed with an extremely rare hormonal disorder. The child was suffering from Aldosterone Synthase Deficiency (ASD), specifically the Corticosterone Methyl Oxidase Type II (CMO II), which slows down growth.
The baby was presented with symptoms of poor feeding, frequent vomiting and developmental delays when it was five months old. The weight of the baby was 5kg and was not increasing. After observing the baby for some time, the doctors advised the parents to get genetic testing done.
The report came in when the boy was seven months old and revealed that he had ASD. The condition affects the body's ability to retain salt and maintain normal blood pressure.
Dr Bhargav Patel, a paediatrician at MT Mirani Hospital, which is run by the Sad Vichar Parivar in Godhra, said tests initially showed electrolyte imbalance and low aldosterone levels, prompting further genetic testing. He added that the condition, caused by mutations in the CYP11B2 gene, is so rare that only a handful of cases have been reported worldwide.
"In this infant, the Thr185Ile mutation was identified. It is the first such case reported not only in Gujarat but across India, marking a rare genetic discovery," said Patel. He added that the diagnosis was confirmed through Whole Exome Sequencing. Treatment was initiated with fludrocortisone and salt supplementation, which led to visible improvements in just a few weeks. The child will have to keep taking hormones orally for life.
"His feeding improved, weight increased and developmental milestones that had stalled began progressing again," said Dr Patel. He emphasized the need for awareness and genetic testing for rare paediatric disorders.
