posterior spinal dysraphism with lumbocostovertebral syndrome
TRANSCRIPT
SHORT REPORT
Posterior spinal dysraphism with lumbocostovertebral syndrome
GURPREET SINGH1, SHRUTI AHUJA2, RASHMI KUMAR3, ANIL CHANDRA4,
BALKRISHNA OJHA4, CHANDRAKANTA SINGH3 & SARIKA GUPTA3
1Department of Neurosurgery, Barrow Neurological Institute, Phoenix, Arizona, 2Department of Paediatrics, PGIMER,
Chandigarh, India, 3Department of Paediatric, King George Medical University, Lucknow, India, and 4Department of
Neurosurgery, King George Medical University, Lucknow, India
AbstractWe report a 5-year-old male child with absent rib, hemivertebra, superior lumbar hernia (features of lumbocostovertebralsyndrome) and posterior spinal dysraphism, which is the second case in the English literature with such a combination ofdefects. Radiology and management of the case is discussed.
Key words: Lumbar hernia, lumbocostovertebral syndrome, spinal dysraphism.
Introduction
Lumbocostovertebral syndrome is a rare develop-
mental defect in children with only 12 cases reported
in literature so far. The constellation of abnormal
findings includes hemivertebrae, congenital absence
of ribs, anterior myelomeningococle and hypoplasia
of abdominal wall presenting as congenital lumbar
hernia.1–4 We report a case of lumbocostovertebral
syndrome (right superior lumbar hernia, hemiverte-
bra and absent ribs on right side) associated with
posterior spinal dysraphism.
Case report
A 5-year-old Nepali boy presented with history of
swelling in right hypochondrium and low back regions
with difficulty while walking. On examination he was
found to have a 10 cm reducible swelling in the right
hypochondrium with expansile cough impulse (Fig. 1).
There was another swelling in the low back region,
which was around 5 cm64 cm and was ill-defined
soft, irreducible and without a cough impulse. There
was a midline hyper-pigmented skin lesion in the
lumbosacral region with hypertrichosis. There was
thoracolumbar dextroscoliosis. The neurological exam-
ination of lower limbs was unremarkable. The right
ankle was found to be in talipes equino varus deformity.
The superficial anal reflex was normally elicitable and
anal tone was normal.
Digital X- ray of dorsolumbar spine revealed hemi-
vertebra at D10 level, absent 9th rib and bifid 7th rib on
the right side with a soft tissue shadow under the right
costalmargin (Fig.2).Therewas evidence of spina bifida
involving L5 and all sacral vertebrae. Thoracolumbar
dextroscoliosis was present.
MRI spine revealed hemivertebra at D10 (Fig. 3).
There was a low-lying tethered cord at L5 (con-
firmed to be at S3–4 during surgery) with distal
hydromyelia (confirmed with T1 and T2 intensities
on MR). There was a subcutaneous lipoma with a
fibrous stalk (confirmed at surgery) extending close
to the dorsal aspect of the cord (Fig. 4). Ultrasound
abdomen revealed that the abdominal muscles in
right hypochondrium were membranous and thick-
ness of parieties was significantly decreased.
The patient underwent L4,5 laminectomy with
exploration of the defect in the sacrum upto S2-3
level. The subcutaneous lipoma was found to be
tethered with the dorsal dura as a fibrofatty stalk that
was released. Durotomy was done. There was a
single cord descending upto the S2-3 level with a
terminal lipoma in continuity with the lower end of
the cord. It was attached at the S4 level. The cord
was detethered by excising the lipoma from the
lowermost attachment. Dura was primarily closed.
Discussion
Lumbocostovertebral syndrome consists of hemiver-
tebrae, congenital absence of ribs, anterior myelo-
meningococle and hypoplasia of abdominal wall.
The third to eighth weeks of gestation is called the
period of organogenesis, as all 3 germ layers,
ectoderm, mesoderm and endoderm give rise to
Correspondence: Gurpreet Singh, King George Medical University— Lucknow, Lucknow, India. E-mail: [email protected]
Received for publication 12 March 2009. Accepted 22 November 2009.
British Journal of Neurosurgery, April 2010; 24(2): 216–218
ISSN 0268-8697 print/ISSN 1360-046X online � The Neurosurgical Foundation
DOI: 10.3109/02688690903506143
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specific structures. Neurulation starts by formation
of neural groove and neural folds by the end of third
week. Neural folds fuse in midline starting in the
region of future neck and proceeds cephalad and
caudad.
Anterior neuropore closes by day 25 and posterior by
day 27. Sonic hedgehog (Shh) produced by notochord
and neural tube induces somite to differentiate into
sclerotome (gives rise to bone and cartilage). Dorsal
neural tube also produces Wnt proteins that initiate
formation of muscle specific genes and formation of
body wall muscles. Any injurious stimuli at this stage can
result in this combination of neural tube defects,
absence of ribs and vertebrae along with abdominal
wall defects.7
In our case, the patient had a right superior lumbar
hernia, D10 hemivertebra, absent right 9th rib,
posterior spinal dysraphism and tethered cord at S2-
3 level with a fibrous stalk extending from the
subcutaneous lipoma to the dorsal dura of the cord.
This case possibly represents the second case in the
English literature. Kumar, Kulkarni and Haran
reported a similar case from Vellore6. However, in
comparison with their case, the older age at
presentation (5 years vs. 18 months), the lower level
of tethering of the cord (S2-3 vs. L4), the presence of
talipes equino varus deformity and the absence of a
neurodeficit despite the long duration of the tether-
ing make this case unique and thus worthy of
dissemination. Our case underlines the importance
of a complete evaluation including abdominal ultra-
sound, radiographs of the chest, abdomen and spine
and MRI of the spine to look for associated problems
even in the absence of neurodeficit.
FIG. 3. T2 MRI spine revealing hemivertebra at Dl0, a low-lying
tethered cord at L5 (confirmed to be at S3–4 during surgery) with
distal hydromyelia.
FIG. 4. T2 axial MRI showing a subcutaneous lipoma with a
fibrous stalk (confirmed at surgery) extending close to the dorsal
aspect of the cord.
FIG. 1. 10 cm reducible swelling in the right hypochondrium
(cough impulse positive).
FIG. 2. Digital X- ray of dorsolumbar spine revealing hemi-
vertebra at Dl0 level, absent 9th rib and bifid 7th rib on the right
side with a sofi tissue shaddow under the right costal margin.
Lumbocostovertebral syndrome 217
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Declaration of interest: The authors report no
conflicts of interest. The authors alone are respon-
sible for the content and writing of the paper.
References
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3 Touloukian RJ. The lumbocostovertebral syndrome: single
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4 Barnay F, Gidenex C, Gurses N. Superior lumbar hernia
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5 Pang D. Spinal Cord Lipomas in Disorders of Pediatric Spine (ed.).
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