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Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature.

Anjankar SD, Subodh R - J Pediatr Neurosci (2014 Sep-Dec)

Bottom Line: Spondylocostal dysostosis (SCDO) is rare anomaly caused due to flawed embryological development of the axial skeleton during preliminary stages of gravidity, characterized by malformed vertebral column and ribs, abridged thorax and kyphoscoliosis.This entity was also reported as a "Jarcho-Levin syndrome" eponym by erstwhile authors, before the introduction of genetic based classification.His chest X-ray displayed absent left side 6(th)-8(th) ribs with peculiar fan like configuration, making the heart vulnerable to any direct injury.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurosurgery, Kamineni Hospitals Ltd., Hyderabad, Andhra Pradesh, India.

ABSTRACT
Spondylocostal dysostosis (SCDO) is rare anomaly caused due to flawed embryological development of the axial skeleton during preliminary stages of gravidity, characterized by malformed vertebral column and ribs, abridged thorax and kyphoscoliosis. This entity was also reported as a "Jarcho-Levin syndrome" eponym by erstwhile authors, before the introduction of genetic based classification. A literature review showed only three cases of this clinical entity with lipomyelomeningocele. We report the fourth case report of an infant with SCDO with lipomyelomeningocele. His chest X-ray displayed absent left side 6(th)-8(th) ribs with peculiar fan like configuration, making the heart vulnerable to any direct injury. Special care has to be taken for such patients who need surgical procedure in the prone position.

No MeSH data available.


Related in: MedlinePlus

Magnetic resonance imaging spine: (a) T1-weighted Sagittal image and (b) T2-weighted Sagittal image displaying lumbosacral lipomyelomeningocele with low lying cord at L4–L5 level with tethered cord and deformed 7th and 9th thoracic vertebrae (c) T2-weighted axial image at L4–L5 spinal level showing lipomyelomeningocele communicating through vertebral defect (d) short inversion time inversion recovery coronal image demonstrating deficient and malformed rib cage on left side
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Figure 2: Magnetic resonance imaging spine: (a) T1-weighted Sagittal image and (b) T2-weighted Sagittal image displaying lumbosacral lipomyelomeningocele with low lying cord at L4–L5 level with tethered cord and deformed 7th and 9th thoracic vertebrae (c) T2-weighted axial image at L4–L5 spinal level showing lipomyelomeningocele communicating through vertebral defect (d) short inversion time inversion recovery coronal image demonstrating deficient and malformed rib cage on left side

Mentions: On examination, the child was conscious, alert, and active. Neurological examination revealed right foot wasting and weakness with equinovarus deformity. Examination of the thorax revealed a shortened thorax with deficient rib cage on the left side. Second, a soft, mid-line swelling was present in the lumbosacral region, which was non-compressible and nontransilluminant with no overlying skin defect or leak. Physical examination did not reveal any associated stigmata such as short neck, abnormal facial feature, thoracic asymmetry, polythelia, inguinal swelling, undescended testis or anal atresia. Chest X-ray displayed absent left sixth to eighth ribs and fan like configuration of ribs, seventh and ninth butterfly shaped thoracic vertebrae and mild scoliosis of the thoracolumbar spine [Figure 1]. Magnetic resonance imaging revealed lumbosacral lipomyelomeningocele with low lying cord at L4–L5 level with tethered cord [Figure 2]. He underwent excision and repair of lipomyelomeningocele and detethering of cord under general anesthesia in the prone position with appropriate padding to avoid direct pressure on the heart. Both the intraoperative and postoperative period was uneventful without any further deterioration in neurological function.


Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature.

Anjankar SD, Subodh R - J Pediatr Neurosci (2014 Sep-Dec)

Magnetic resonance imaging spine: (a) T1-weighted Sagittal image and (b) T2-weighted Sagittal image displaying lumbosacral lipomyelomeningocele with low lying cord at L4–L5 level with tethered cord and deformed 7th and 9th thoracic vertebrae (c) T2-weighted axial image at L4–L5 spinal level showing lipomyelomeningocele communicating through vertebral defect (d) short inversion time inversion recovery coronal image demonstrating deficient and malformed rib cage on left side
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4302546&req=5

Figure 2: Magnetic resonance imaging spine: (a) T1-weighted Sagittal image and (b) T2-weighted Sagittal image displaying lumbosacral lipomyelomeningocele with low lying cord at L4–L5 level with tethered cord and deformed 7th and 9th thoracic vertebrae (c) T2-weighted axial image at L4–L5 spinal level showing lipomyelomeningocele communicating through vertebral defect (d) short inversion time inversion recovery coronal image demonstrating deficient and malformed rib cage on left side
Mentions: On examination, the child was conscious, alert, and active. Neurological examination revealed right foot wasting and weakness with equinovarus deformity. Examination of the thorax revealed a shortened thorax with deficient rib cage on the left side. Second, a soft, mid-line swelling was present in the lumbosacral region, which was non-compressible and nontransilluminant with no overlying skin defect or leak. Physical examination did not reveal any associated stigmata such as short neck, abnormal facial feature, thoracic asymmetry, polythelia, inguinal swelling, undescended testis or anal atresia. Chest X-ray displayed absent left sixth to eighth ribs and fan like configuration of ribs, seventh and ninth butterfly shaped thoracic vertebrae and mild scoliosis of the thoracolumbar spine [Figure 1]. Magnetic resonance imaging revealed lumbosacral lipomyelomeningocele with low lying cord at L4–L5 level with tethered cord [Figure 2]. He underwent excision and repair of lipomyelomeningocele and detethering of cord under general anesthesia in the prone position with appropriate padding to avoid direct pressure on the heart. Both the intraoperative and postoperative period was uneventful without any further deterioration in neurological function.

Bottom Line: Spondylocostal dysostosis (SCDO) is rare anomaly caused due to flawed embryological development of the axial skeleton during preliminary stages of gravidity, characterized by malformed vertebral column and ribs, abridged thorax and kyphoscoliosis.This entity was also reported as a "Jarcho-Levin syndrome" eponym by erstwhile authors, before the introduction of genetic based classification.His chest X-ray displayed absent left side 6(th)-8(th) ribs with peculiar fan like configuration, making the heart vulnerable to any direct injury.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurosurgery, Kamineni Hospitals Ltd., Hyderabad, Andhra Pradesh, India.

ABSTRACT
Spondylocostal dysostosis (SCDO) is rare anomaly caused due to flawed embryological development of the axial skeleton during preliminary stages of gravidity, characterized by malformed vertebral column and ribs, abridged thorax and kyphoscoliosis. This entity was also reported as a "Jarcho-Levin syndrome" eponym by erstwhile authors, before the introduction of genetic based classification. A literature review showed only three cases of this clinical entity with lipomyelomeningocele. We report the fourth case report of an infant with SCDO with lipomyelomeningocele. His chest X-ray displayed absent left side 6(th)-8(th) ribs with peculiar fan like configuration, making the heart vulnerable to any direct injury. Special care has to be taken for such patients who need surgical procedure in the prone position.

No MeSH data available.


Related in: MedlinePlus