Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation

Abstract

Patient: Female, 5Final Diagnosis: Jarco-Levine syndromeSymptoms: Respiatory distressMedication: —Clinical Procedure: Supportive managementSpecialty: Pediatrics and NeonatologyObjective:Congenital defects/diseasesBackground: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.

Spondylocostal dysplasia: a rare cause of respiratory distress in term neonates

“…Rare cases of JLS with splenic herniation, spinal dysraphism, congenital diaphragmatic hernia have been reported, but clear distinction between JLS and Lavy Moseley has been proposed only recently. [8][9][10] Lavy Moseley or spondylothoracic dysplasia is more common in people of Puerto Rican ancestry. It presents with severe respiratory compromise due to shortened thorax and it was thought to be nearly uniformly fatal.…”

Sonographic Criteria for Diagnosing Jarcho-Levin Syndrome

“…2 Jarcho-Levin is caused by a gene mutation inherited as an autosomal recessive or autosomal dominant trait. 4,7 According to the National Organization for Rare Disorders, genes that have been connected to this disorder include the DLL3 gene located on chromosome 19 at 19q13 and MESP2 gene located on chromosome 15 at 15q26.13. 3,8 In autosomal recessive cases, the individual with Jarcho-Levin syndrome inherited the abnormal gene from both parents, who are carriers.…”

Effects of spinal deformities on lung development in children: a review

“…Jarcho–Levin syndrome (JLS) is an autosomal recessive congenital skeletal disorder with no known [ 57 ]. It is characterized by abnormal segmentation of the thoracic vertebrae and irregular fusion of the ribs that lead to EOS, restrictive lung disease and ultimately, TIS [ 58 ].…”