A rare case of Sprengel deformity associated with spondylocostal dysostosis in a four-year child

Sprengel deformity is a complex congenital anomaly affecting one or both scapulae with mispositioning and dysplasia of scapula. It occurs due to failure of descent of scapula during intrauterine development and is the commonest congenital skeletal deformity of the scapula, often associated with other skeletal deformities. spondylocostal dysostosis is a rare genetic disorder which is characterized by malformation of the bones of the spine and ribs. It occurs in approximately 1 in 2,00,000 people worldwide. In spondylocostal dysostosis, affected children have wedge shaped vertebrae along with ribs that are fused, forked or sometimes missing. Based on the severity of the defect's children may present with short stature, scoliosis or hypoplasia of lungs causing difficulty in breathing and recurrent respiratory tract infections. Management of both these skeletal deformities depends on their severity and the presence of associated deformities. Surgical intervention might be required for cosmetic and functional recovery of the shoulder. Authors had a rare and interesting case of a 4-year-old boy who had features of Sprengel deformity affecting left scapula which was associated with features of spondylocostal dysostosis.

Disostosis espondilocostal y colangitis aguda en urgencias pediátricas / Spondylocostal dysostosis and acute cholangitis in pediatrics emergency room

Resumen: Introducción: Las malformaciones congénitas vertebrales y costales concomitantes comprenden un grupo heterogéneo de enfermedades denominadas disostosis espondilocostal. Tienen en común la alteración del desarrollo o morfología de las estructuras vertebrales y de la caja torácica con una expresividad variable: desde la deformidad leve sin consecuencias funcionales hasta lesiones que amenazan la vida. Se presenta el caso de una niña con disostosis espondilocostal y colangitis aguda. Caso clínico: Paciente de sexo femenino de 13 meses de edad con desnutrición severa y antecedente de hidrocefalia y mielomeningocele quien ingresa al servicio de Urgencias por presentar dificultad respiratoria progresiva y fiebre. En la evaluación se encontraron malformaciones costovertebrales y colangitis aguda. Conclusiones: Las anormalidades costales complejas consisten en malformaciones de la pared torácica sin un patrón determinado y son extremadamente raras. Cuando se presentan al mismo tiempo que las malformaciones vertebrales, puede considerarse como síndrome de disostosis espondilocostal ligado a herencia autosómica recesiva. El diagnóstico es clínico-radiográfico. La identificación de la disostosis espondilocostal y las complicaciones relacionadas con sus causas genético-moleculares implican un reto para el pediatra y el equipo multidisciplinario que los trata a lo largo de su vida.

Abstract: Background: Congenital malformations of the chest wall comprise a heterogeneous group of diseases denominated spondylocostal dysostosis. They have in common developmental abnormalities in the morphology of the structures of the chest and vertebrae with a broad characterization: from mild deformity without functional consequences to life-threatening injuries. We present the case of a girl with spondylocostal dysostosis and acute cholangitis. Clinical case: A 13-month-old girl with severe malnutrition, history of hydrocephalus and myelomeningocele at birth was admitted in the emergency pediatric room with fever and progressive respiratory distress. Clinical assessment revealed ribs and vertebral malformations and acute cholangitis. Conclusions: Complex rib abnormalities consist in deformities of the chest wall, which do not have a specific pattern and are extremely rare. When they are associated with myelomeningocele and hydrocephalus they may be considered as autosomal recessive inheritance spondylocostal dysostosis. The diagnosis is established by clinical assessment and X-rays. Spondylocostal dysostosis identification and complications related to their genetic and molecular causes are still a challenge for clinical pediatricians and the multidisciplinary medical team who treats these patients throughout lifetime.

Disostose espondilocostal: evolução de dois casos / Spondylocostal dysostosis: follow-up of two cases

Objetivos: Relatar dois casos de disostose espondilocostal, descrevendo a apresentação e evolução clínica dos pacientes.Descrição dos Casos: Apresentam-se dois casos não relacionados de disostose espondilocostal. O primeiro caso é de um menino com11 anos de idade e o segundo de uma menina com quatro anos. Em ambos os casos, foram evidentes ao nascimento características clínicas como tronco e pescoço curtos, escoliose, alterações das costelas e anomalias das estruturas sacrococcígeas. O diagnóstico clínico foi confirmado nos dois pacientes pelo achado de mutação em ambos os alelos do gene DLL3. A evolução clínica foi satisfatória, sem complicações respiratórias até o momento deste relato.Conclusões: O termo disostose espondilocostal designa um grupo de alterações caracterizado por malformações esqueléticas, com anomalias das costelas, como costelas largas, bifurcadas e com fusão assimétrica. Trata-se de uma situação rara, apesar de sua incidência e prevalência exatas não serem conhecidas. As disostoses espondilocostais podem ser esporádicas ou ter um padrão de herança familiar, autossômica dominante ou recessiva. Um diagnóstico precoce e uma abordagem apropriada são de extrema importância para orientação da família e seguimentoadequado...

Aims: To report two cases of spondylocostal dysostosis, describing their clinical presentation and evolution.Cases Description: Two non-related cases of spondylocostal dysostosis are reported. The first case consists of an 11 years old boy, and thesecond case is a girl with four years of age. In both cases, short neck and trunk, scoliosis, rib and sacrococcygeal anomalies were evident atbirth. The clinical diagnosis of spondylocostal dysostosis was confirmed by the finding of a mutation in both alleles of the DLL3 gene. Theirclinical evolution was satisfactory, with no respiratory complications until this report.Conclusions: The spondylocostal dysostosis are a group of disorders characterized by severe skeletal malformations, with rib anomaliessuch as broadening, bifurcation and no symmetric fusion. Although it is known to be a rare situation, its exact incidence or prevalenceis not well established. An early diagnosis and appropriate management are extremely important for adequate family counseling andfollow-up...

Tomographic assessment of the spine in children with spondylocostal dysotosis syndrome

OBJECTIVE: The aim of this study was to perform a detailed tomographic analysis of the skull base, craniocervical junction, and the entire spine in seven patients with spondylocostal dysostosis syndrome. METHOD: Detailed scanning images have been organized in accordance with the most prominent clinical pathology. The reasons behind plagiocephaly, torticollis, short immobile neck, scoliosis and rigid back have been detected. Radiographic documentation was insufficient modality. RESULTS: Detailed computed tomography scans provided excellent delineation of the osseous abnormality pattern in our patients. CONCLUSION: This article throws light on the most serious osseous manifestations of spondylocostal dysostosissyndrome.

Jarcho-levin Syndrome Associated with Imperforate Anus and Thoracoabdominal Wall Hernia

Jarcho-Levin syndrome is a rare condition, characterized by multiple morphological abnormalities of the vertebrae and ribs due to malsegmentation of the axial skeleton. The authors report a case of Jarcho-Levin syndrome, with a review of the related literature. A full-term neonate presented with a reducible bulging mass in the left lateral thoracoabdominal wall, respiratory difficulty with cyanosis, and an imperforate anus. A radiographic examination revealed severe cervicothoracic vertebral anomalies, associated with secondary deformities of the ribs. An echocardiogram demonstrated a complete atrioventricular canal defect with TOF. To the best of our knowledge, this case of Jarcho-Levin syndrome, associated with a thoracoabdominal wall hernia and an imperforate anus, appears to be the first reported in the Korean and English language literatures.