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: medicine2music@hotmail.com

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

1 Lee CM Jr, Mattheis H. Congenital lumbar hernia. Arch Dis

Child 1957;34:42–7.

2 Talukder BC. Congenital lumbar hernia. J Pediatr Surg 1974;

9:419–20.

3 Touloukian RJ. The lumbocostovertebral syndrome: single

somatic defect. Surgery 1972;71:174–81.

4 Barnay F, Gidenex C, Gurses N. Superior lumbar hernia

associated with the lumbocostovertebral syndrome. Pediatr Surg

Int 1990;5:469–70.

5 Pang D. Spinal Cord Lipomas in Disorders of Pediatric Spine (ed.).

Raven Press.: New York; 1995;178–9.

6 Samson G, Kumar S, Kulkarni V, Haran RP. Lumbo-costo-

vertebral syndrome with posterior spinal dysraphism. Neurol India

2005:53:351–3.

7 SadlerTW.Langman’sMedicalEmbryology.LippincottWilliamsand

Wilkins:NewYork.Eighthedition,04/2000;Chapter5,page83–95.

218 G. Singh et al.

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