Lipomeningomyelocele with Fatty Filum Terminale in a Patient with Jarcho-Levin Syndrome: A Rare Association Requiring Special Attention.

Lipomeningomyelocele (LMMC) with Jarcho-Levin syndrome (JLS) is extremely rare. The syndromic association is one of LMMC with JLS is one of phenotype of spondylocostal dysostosis (SCD). SCD is an autosomal-recessive disorder characterized by defects in the vertebrae and abnormalities of the ribs in the form of segmental fusion, malalignment, or absence of a few ribs. These patients are prone to pulmonary insufficiency and repeated infections. Close anesthetic vigil is also needed to maintain optimal ventilation during surgery. We are reporting a case of 11-month-old male child presented with LMMC swelling and absent left-side multiple ribs. On further evaluation, we found hemivertebrae and scoliosis. This report highlights the experience of operating a child with JLS in prone position.

INTRODUCTION

Spondylocostal dysostosis (SCD) is characterized by vertebral curvature anomalies with a variety of rib anomalies. Although a number of deformities such as those of the scapulae, diaphragm, heart, lungs, and even the limbs coexist, an association of spinal dysraphism with SCD, also known as Jarcho–Levin syndrome (JLS), is extremely rare.[1] To the best of our knowledge, only about 20 odd cases of JLS are published so far. Lipomeningomyelocele (LMMC), as the dysraphic lesion of JLS, has been reported only on four occasions till now. Here, we report the fifth case of JLS presenting with LMMC in an 11-month-old boy. This child had absent upper ribs on the left side that required specific anesthetic considerations and attention to positioning during LMMC surgery. Herein, we review the previously reported cases and aim to highlight the significance of this rare clinical association.

CASE SUMMARY

An 11-month-old boy was admitted with a soft, slowly progressive swelling over the lower back since birth. The perinatal history was unremarkable. Neurological examination revealed a conscious, alert infant without any motor deficits in the lower limbs. Examination of the thorax revealed a soft swelling in the left costal region. There was absence of upper ribs on the left side, and the excursions of the left lung could be appreciated directly beneath the skin. The lumbosacral swelling was soft, noncompressible, non-transilluminant, and covered by normal skin [Figure 1]. The swelling was located in the midline and no other cutaneous stigmata was found.

Figure 1

A 3 cm × 3 cm swelling in lumbosacral region with intact skin and well-defined margins. The swelling is soft noncompressible and non-transilluminant. Lower figure shows one more swelling in left costal region with absent underlying ribs. The thick swelling shows swelling because of deficit lower ribs whereas lower swelling indicates lipomeningomyelocoele swelling

Chest X-ray confirmed the absence of fourth, fifth, and sixth ribs on the left side with a fanlike configuration of the rib cage. Anteroposterior chest skiagrams revealed mild scoliosis to the left side and sixth dorsal vertebra [Figure 2].

Figure 2

(a) Magnetic resonance imaging Sag T2-weighted image shows lipoma at L2-L4 level with posterior element defect with lipoma extending up to cord and connected with a stalk. There is evidence of low-lying cord. (b) Chest X-ray shows absent ribs with hemivertebrae in left side. (c) Computed tomography of chest shows normal lung parenchyma and heart. Left side ribs are absent

Magnetic resonance imaging of the lumbosacral spine showed a subcutaneous lesion of a fatlike intensity (T1/T2 hyperintense) seen entering the intradural compartment through the defective posterior elements of L3-L5. The filum was thickened and the cord was low lying [Figure 2]. Cranial screening revealed a Chiari malformation type II without hydrocephalus.

The child underwent exploration of the lesion under general anesthesia in prone position. Deficient posterior elements of L2-L5 vertebrae and normal dura were identified above and below the stalk of the LMMC. The lipoma was transitional in type. Major lipomatous mass was extending subpially through a dorsal defect in the conus whereas the smaller portion was attached to its caudal end [Figure 3]. The lipomatous mass was shaved off the conus maximally. The cleft of the conus was repaired with 4-0 prolene. The fatty filum was divided to release the conus completely. Dura was closed primarily in a watertight manner. Wound was closed in layers.

Figure 3

Intraoperative photograph of lipoma being dissected all around

The child had an uneventful postoperative period. He was advised regular follow-up at the time of discharge.

DISCUSSION

SCD is an autosomal-recessive disorder characterized by defects in the vertebrae and abnormalities of the ribs in the form of segmental fusion, malalignment, or absence of a few ribs. These patients may present with a short trunk disproportionate to the height and scoliosis.[1] Although the radiological features are diagnostic of SCD, absolute confirmation of the diagnosis mandates molecular genetic testing. Depending on the type of genotype, SCD is further divided into four types.

In 1938,[2] described “two colored ribs” with a form of SCD that most closely resembled the Type 2 phenotype. However, International Consortium for Vertebral Anomalies and Scoliosis later redefined JLS as a part of Type 1 SCD. The association of JLS with spinal dysraphism is extremely rare. Of the four types of SCD, Types 1 and 4 are known to be associated with various neural tube defects such as spina bifida, meningocele, meningomyelocele, LMMC, and diastematomyelia.[3] Our case closely resembled Type 2 phenotype of SCD. The other cases of LMMC in JLS are summarized in Table 1.

Table 1

Previous reported cases on Jarcho Levin Syndrome with their associations

Apart from the rarity of the association, we highlight the specific challenges in the management of these patients. These patients are prone to pulmonary insufficiency and repeated infections. Paradoxical movement of the rib-deficient thoracic wall and reduced-chest compliance secondary to the scoliosis also add to the difficulties.[4] These patients may need ventilator support in their postoperative period. The association with neural tube defects makes management even more difficult. The need for prone positioning during surgery is a challenge. Proper padding of the area of absent ribs is required to avoid direct pressure on the heart and the lungs. Close anesthetic vigil is also needed to maintain optimal ventilation during surgery. In our case, we evaluated the child with echocardiography before surgery. The patient was positioned using cotton pads and pillow below the chest. The site with absent ribs had additional padding.[5] Luckily, our case did not develop any intraoperative complications. Avoidance of sedatives preoperatively and opioid analgesics during surgery are recommended in such cases to prevent pulmonary complications.

LMMC surgery in such patients is no different than the routine cases. Care has to be taken to address all possible tethering elements at the time of surgery. Any missed tethering may later lead to worsening of the scoliosis. As far as the deficiency of the ribs is concerned, single-rib absence usually does not require any intervention. With absence of more than one rib, these infants usually manifest with dyspnea and cyanosis soon after birth. They also develop repeated chest infections and progressive curvature deformity. Surgical repair of the chest wall defect using a wide range of autologous/synthetic tissue or sternum-reversal operation is recommended for the symptomatic patients. Less frequently, like in our case, the absence of multiple ribs is not associated with any pulmonary deformities, and the breathing remains unaffected. These patients can be kept under observation with a low threshold for surgery.

CONCLUSIONS

Occurrence of LMMC in the background of JLS is extremely rare. During surgery of LMMC, special precautions are taken while administering anesthesia and positioning the patient. Thorough preoperative evaluation, attention to detail during surgery, and close follow-up are essential in these patients.

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Conflicts of interest

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