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Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases.

Muthukumar N - J Pediatr Neurosci (2015 Apr-Jun)

Bottom Line: A 14-month-old male child was noted to have a small swelling in the low back along with deformity of the right lower chest since birth.MRI showed a spinal dermal sinus at the lumbosacral junction with a low-lying conus.Although rare, spondylocostal dysostosis can be associated with occult spinal dysraphic lesions like type I split cord malformations or spinal dermal sinus.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurosurgery, Madurai Medical College, Madurai, Tamil Nadu, India.

ABSTRACT
Spondylocostal dysostosis, also known as Jarcho-Levine syndrome, is a rare disorder characterized by multiple vertebral and rib anomalies at birth. The association of occult spinal dysraphic lesions with this entity is rare. Two patients with spondylocostal dysostosis and occult spinal dysraphic lesions, one with type I split cord malformation and another with spinal dermal sinus are being reported. A 7-month-old female child who was operated at birth for imperforate anus was noted to have a dimple at the low back with altered skin color around the dimple. Examination revealed the right lower extremity was slightly thinner than the left. Plain radiographs showed features of spondylocostal dysostosis with scoliosis. Magnetic resonance imaging (MRI) showed a type I split cord malformation at the lumbosacral junction with low-lying conus and terminal syringomyelia. Patient underwent excision of the bony spur uneventfully. A 14-month-old male child was noted to have a small swelling in the low back along with deformity of the right lower chest since birth. Plain radiographs revealed features of spondylocostal dysostosis. MRI showed a spinal dermal sinus at the lumbosacral junction with a low-lying conus. The patient underwent excision of the spinal dermal sinus and untethering of the cord uneventfully. Although rare, spondylocostal dysostosis can be associated with occult spinal dysraphic lesions like type I split cord malformations or spinal dermal sinus. Physicians should be aware about the possibility of children with spondylocostal dysostosis harboring occult spinal dysraphic lesions so that these patients receive appropriate treatment.

No MeSH data available.


Related in: MedlinePlus

Clinical photograph of case number 2 revealing a swelling in the lumbar region with deformity of the right lower chest
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Figure 6: Clinical photograph of case number 2 revealing a swelling in the lumbar region with deformity of the right lower chest

Mentions: A 14-month-old male child, 2nd child born of non-consanguineous parents, was brought for neurosurgical consultation for a swelling in the low back along with deformity of the chest since birth. On examination, the child was neurologically intact but had a small, skin-covered swelling in the lumbar region [Figure 6]. There was no cry impulse. There was deformity of the chest on the right side. Plain radiographs of the chest and spine revealed features of spondylocostal dysostosis in the form of absence of fifth and sixth ribs on the right side with multiple hemivertebrae in the mid-thoracic region. Scoliosis with convexity to the right side was also evident [Figure 7]. Computed tomography of the thorax revealed features of spondylocostal dysostosis [Figure 8]. MRI of the whole spine revealed a low-lying cord extending up to S1 level with a terminal syrinx and a spinal dermal sinus extending intraspinally [Figures 9 and 10]. In view of the above clinical and radiological findings, a diagnosis of spondylocostal dysostosis with tethered cord due to spinal dermal sinus was made. During surgery, the spinal dermal sinus tract was traced to end in the spinal cord just above the termination of the conus [Figure 11]. The sinus tract was excised. There was also a thickened filum terminale [Figure 12] which was also sectioned. Postoperatively, there was no change in the neurological status of the child. When examined 1-year later, the child had no neurological deficits but had mild scoliosis which had not worsened in the interim.


Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases.

Muthukumar N - J Pediatr Neurosci (2015 Apr-Jun)

Clinical photograph of case number 2 revealing a swelling in the lumbar region with deformity of the right lower chest
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4489055&req=5

Figure 6: Clinical photograph of case number 2 revealing a swelling in the lumbar region with deformity of the right lower chest
Mentions: A 14-month-old male child, 2nd child born of non-consanguineous parents, was brought for neurosurgical consultation for a swelling in the low back along with deformity of the chest since birth. On examination, the child was neurologically intact but had a small, skin-covered swelling in the lumbar region [Figure 6]. There was no cry impulse. There was deformity of the chest on the right side. Plain radiographs of the chest and spine revealed features of spondylocostal dysostosis in the form of absence of fifth and sixth ribs on the right side with multiple hemivertebrae in the mid-thoracic region. Scoliosis with convexity to the right side was also evident [Figure 7]. Computed tomography of the thorax revealed features of spondylocostal dysostosis [Figure 8]. MRI of the whole spine revealed a low-lying cord extending up to S1 level with a terminal syrinx and a spinal dermal sinus extending intraspinally [Figures 9 and 10]. In view of the above clinical and radiological findings, a diagnosis of spondylocostal dysostosis with tethered cord due to spinal dermal sinus was made. During surgery, the spinal dermal sinus tract was traced to end in the spinal cord just above the termination of the conus [Figure 11]. The sinus tract was excised. There was also a thickened filum terminale [Figure 12] which was also sectioned. Postoperatively, there was no change in the neurological status of the child. When examined 1-year later, the child had no neurological deficits but had mild scoliosis which had not worsened in the interim.

Bottom Line: A 14-month-old male child was noted to have a small swelling in the low back along with deformity of the right lower chest since birth.MRI showed a spinal dermal sinus at the lumbosacral junction with a low-lying conus.Although rare, spondylocostal dysostosis can be associated with occult spinal dysraphic lesions like type I split cord malformations or spinal dermal sinus.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurosurgery, Madurai Medical College, Madurai, Tamil Nadu, India.

ABSTRACT
Spondylocostal dysostosis, also known as Jarcho-Levine syndrome, is a rare disorder characterized by multiple vertebral and rib anomalies at birth. The association of occult spinal dysraphic lesions with this entity is rare. Two patients with spondylocostal dysostosis and occult spinal dysraphic lesions, one with type I split cord malformation and another with spinal dermal sinus are being reported. A 7-month-old female child who was operated at birth for imperforate anus was noted to have a dimple at the low back with altered skin color around the dimple. Examination revealed the right lower extremity was slightly thinner than the left. Plain radiographs showed features of spondylocostal dysostosis with scoliosis. Magnetic resonance imaging (MRI) showed a type I split cord malformation at the lumbosacral junction with low-lying conus and terminal syringomyelia. Patient underwent excision of the bony spur uneventfully. A 14-month-old male child was noted to have a small swelling in the low back along with deformity of the right lower chest since birth. Plain radiographs revealed features of spondylocostal dysostosis. MRI showed a spinal dermal sinus at the lumbosacral junction with a low-lying conus. The patient underwent excision of the spinal dermal sinus and untethering of the cord uneventfully. Although rare, spondylocostal dysostosis can be associated with occult spinal dysraphic lesions like type I split cord malformations or spinal dermal sinus. Physicians should be aware about the possibility of children with spondylocostal dysostosis harboring occult spinal dysraphic lesions so that these patients receive appropriate treatment.

No MeSH data available.


Related in: MedlinePlus