Amrita Institute of Medical Sciences, Kochi, performed surgery on a rare case, saving a mother with Pompe disease and her new-born, for the first time in India. The female baby was born to a mother with juvenile Pompe disease who has been on enzyme replacement therapy for 6 years at the Amrita Institute of Medical Sciences, Kochi campus. This is the first case of a woman with Pompe disease giving birth to a baby in India. Pompe disease is a rare, multisystemic, hereditary disease, which is caused by pathogenic abnormalities/mutations in the ‘GAA gene’. Patients with this condition have muscle weakness in a spectrum of severe complications.

As this was a very high-risk pregnancy, with the patient having severe proximal muscle weakness, elective Lower Segment Caesarian surgery under regional anesthesia was planned. The surgical team consisted of Dr. Radhamoni, Dr. Vinitha, Dr. Girija, Dr. Jean and Dr. Neethu as anesthetist. A prenatal workup was done to check whether her husband was a carrier. As he was not a carrier for Pompe disease, the invasive test was not offered because the baby will not be affected as the condition is an autosomal recessive disorder. The mother continued on enzyme replacement therapy throughout pregnancy and the baby can be breastfed. The genetic team includes Dr Sheela Namboothiri, HOD, Department of Pediatric Genetics, along with Dr Dhanya and Dr Shwetha.