Unusual clinical course, Mistake in diagnosis, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)
Namita Chandra, Sanjay Kumar, Vaibhav Raj, Pawan Kumar Vishwakarma, Sheela Sinha, Ram Prakash Saha
(Department of Paediatrics, Patna Medical College, Patna, India)
Am J Case Rep 2016; 17:745-748
Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and spondylocostal dysplasia, is characterized by varieties of vertebrae and rib anomalies. Jarcho-Levin syndrome is a clinical-radiological diagnosis with clinical evidence of short neck, short trunk, normal-sized limbs, or increased arm span, and vertebral and rib defects on the skeletal survey.
CASE REPORT: About 400 cases have been reported in world literature and 18 in our Indian literature. We report the case of a one-day-old female baby with a short trunk, short neck, low hairline, apparently long limbs, protuberant abdomen, mild midfacial dysmorphism, low-set ears, and a high-arched palate. There was one cystic swelling over the lateral side of the left hypochondrium sized about 3×3 centimeters, nonpusatile; the skin over the swelling was normal color and free. Radiological findings showed crowding of ribs with pebble-like appearance of the vertebrae and diastematomyelia of the spinal cord (type 2). We report here the first case of Jarcho-Levin syndrome with splenic herniation. To the best of our knowledge there have been no case reports of Jarcho-Levin syndrome with splenic herniation in the literature.
CONCLUSIONS: Jarcho-Levin syndrome can be easily diagnosed by clinical-radiological findings in newborns, with short trunk having a high index of suspicion. Prenatal diagnosis using level 2 ultrasonography can make it easier to manage the baby after delivery. Management should be from the basic neonatal care to prevention and immediate treatment of recurrent respiratory infections. Spinal surgical intervention to improve the thoracic volume and hence decrease the pulmonary restriction has been tried.
Keywords: Female, Abnormalities, Multiple - diagnosis, Hernia - diagnosis, Hernia, Diaphragmatic - diagnosis, Humans, Infant, Newborn, Spleen - diagnostic imaging, Splenic Diseases - diagnosis, Whole Body Imaging - methods