Two consecutive Cesarean deliveries in a parturient with ‘Jarcho-Levin Syndrome’
Abstract Number: F-23
Abstract Type: Case Report/Case Series
Introduction: Jarcho-Levin Syndrome (JLS) is a rare genetic disease causing dwarfism, severe ribcage and vertebral abnormalities, including severe scoliosis. Although once considered a fatal disease of infancy, recent literature suggests with modern medical care, a minority of patients survive into adulthood. The present report describes the case of a patient with JLS, who not only survived until adulthood, but had two successful pregnancies and Cesarean deliveries.
Case: An 18 year old G1P0 woman with JLS presented to the ante-natal clinic for Cesarean delivery due to abnormal pelvic anatomy. Her phenotype was typical dwarfism, height at 136 cm and weight of 44 kg (pregestational weight of 35 kg). Her preoperative x-ray is shown (Fig 1), demonstrating multiple vertebral malformations and major pelvic abnormalities. PFT’s revealed moderate restrictive lung disease, FVC of 1.45L (47% pred.) and FEV1 of 1.31L (45% pred.). Despite a planned elective Cesarean delivery at term, respiratory deterioration at 33 weeks prompted an urgent operative delivery under general anesthesia (GA). Induction of GA was complicated by O2 desaturation to 85%, which was corrected promptly, due to endobronchial intubation. Remainder of operation was uneventful. Two years later, the same patient presented for a second cesarean delivery. At 35 weeks, she became acutely dyspneic with minimal exertion and again underwent an urgent Cesarean delivery under GA.
Discussion: Jarcho Levin Syndrome is a multisystemic disease, leading to challenges in both general and regional anesthesia. Neuraxial anesthesia is complicated by skeletal malformations, leading to technical difficulty and unpredictable spread of local anesthetics. For GA, challenges include severe restrictive lung disease, potential difficult airway and unlike in other more common forms of dwarfism, patients with JLS have disproportionately shorter tracheas, increasing the likelihood of endobronchial intubation (1). Preoperative x-ray to determine tracheal length is recommended. Postoperative mechanical ventilation should also be considered. We strongly recommend early gestational assessment by obstetrics, respirology, anesthesiology and neonatology since third trimester respiratory deterioration may precipitate urgent delivery. GA may be the technique of choice for these patients due to high failure rate of regional blocks and potential severe cardiorespiratory compromise.
(1) Wells T.R.. Am J Dis Child, 1990;144(12):1369-7