Jarcho-Levin Syndrome

At a glance

It is characterized by multiple skeletal deformities as a result of fused and/or malformed vertebrae (hemivertebrae), malformed or missing ribs, and a restricted chest cavity preventing normal development of the lungs. A chest cavity that is too small for the infant’s lungs especially as the lungs grow. Infants affected with this medical condition present short necks, limited neck motion, and short stature. It is a life-threatening disease due to recurrent pneumonias and respiratory insufficiency. Death occurs by 1 year of age.

Synonyms

Spondylocostal Dysostosis; Spondylothoracic Dysplasia; Costovertebral Dysplasia; Spondylothoracic Dysostosis.

History

Genetic disorder first described by S. Jarcho and P. M. Levin in 1938.

Incidence

Jarcho-Levin Syndrome is a very rare disorder that affects males and females in equal numbers. The incidence is estimated at 1:40,000 births worldwide. There seems to be a higher incidence of this disorder in people with Spanish heritage.

Genetic inheritance

Autosomal recessive. There are two forms of Jarcho-Levin Syndrome determined by the genetic inheritance pattern. The spondylocostal dysostosis Type 1 (SCDO1) is an autosomal recessive genetic trait and it is caused by an abnormality in the DLL3 gene located on chromosome 19 at 19q13. The SCDO2 is caused by an abnormality in the MESP2 gene located on chromosome 15 at 15q26.1.

Pathophysiology

Can be caused by mutation in the DLL3 gene mapped on 19q13.

Diagnosis

Clinical, with dwarfism and multiple anomalies of bones.

Clinical aspects

Infants present with short stature. Features involve skeleton (scoliosis, lordosis, long limbs, short rib cage, vertebral segmentation anomaly, prominent occiput, camptodactyly, syndactyly of fingers, talipes-varus/valgus), head (short neck, low-set ears, anteverted nares, broad nasal root, upslanted fissures, long philtrum, broad forehead), and gastrointestinal (inguinal or umbilical hernia). Intrauterine growth retardation is frequent. Cleft palate, macrocephaly, microcephaly, congenital cardiac anomaly, cryptorchism, genital abnormality, and imperforate anus may occur. Respiratory deficiency is caused by thoracic anomalies. Pulmonary hypertension has been described.

Precautions before anesthesia

Evaluate respiratory function (clinical, chest radiographs, pulmonary function tests, and arterial blood gas analysis). Evaluate for the possibility of difficult airway management because of the presence of a short neck and skull abnormality (clinical, radiographs).

Anesthetic considerations

Careful intraoperative positioning is needed. Tracheal intubation can be difficult and may require adapted anesthetic technique. It is recommended to have handy different adapted sizes of laryngeal mask airway (LMA) in case of an unexpected difficult airway and lung ventilation. Postoperative mechanical ventilatory support can be necessary. Regional anesthesia is not contraindicated but can be difficult to realize. Postoperative mechanical ventilation may be necessary in the presence of ...