Title : Pregnancy with Roussy Levy syndrome – A rare multidisciplinary management challenge
Abstract:
Roussy Levy Syndrome (RLS) is an infrequently encountered hereditary sensorimotor neuropathy, often considered a variant of Charcot-Marie-Tooth disease. It presents with a spectrum of neuromuscular symptoms including ataxia, areflexia, and distal muscle wasting, posing unique challenges in pregnancy.
We present the case of a 28-year-old primigravida at 29 weeks 6 days gestation, admitted with epigastric pain and a history of longstanding muscle weakness, sensorineural hearing loss, and spinal deformity. She was diagnosed with RLS based on neurological and electrophysiological findings, supported by her family history and clinical presentation. Antenatal investigations revealed polyhydramnios with fetal left kidney pelviectasia and choledocholithiasis with gall bladder sludge. Her pregnancy course was further complicated by hypothyroidism and neuromuscular fatigue.
A multidisciplinary team consisting of obstetricians, neurologists, orthopaedicians, ENT specialists, endocrinologists, and genetic counsellors was involved in her care. She underwent elective cesarean section at 37+3 weeks delivering a healthy male infant weighing 3 kg. Postpartum care focused on physiotherapy and supportive rehabilitation. Genetic counselling was advised for future pregnancies, and ERCP was planned for gall
bladder pathology.
This case highlights the importance of individualized and coordinated care for pregnant women with complex neuromuscular conditions. The successful outcome underscores the value of timely diagnosis, antenatal monitoring, and a multidisciplinary approach in ensuring maternal and fetal wellbeing in rare syndromic pregnancies.
