Cobb Syndrome in an Indian Girl

C a s e S t u d i e s

51January • February 2006

C obb syndrome, cutaneomeningospi-nal angiomatosis, is an extraordinary clinical entity characterized by the

combination of a vascular skin nevus and an angioma within the same metamere1–5 of the spinal canal. Only 30 cases of the condition have been reported from across the globe, emphasizing its unusual occurrence; how-ever, the condition has never been reported from the Indian subcontinent. The current report is the first of its type from India.

The diagnosis of Cobb syndrome, cutaneo-meningospinal angiomatosis, is made on the basis of its morphologic expression sup-plemented by magnetic resonance imaging and other relevant laboratory components. In view of its rare occurrence, it is diffi-cult to evolve/enact innovation in treatment

modalities. Nevertheless, it is worthwhile to take stock of available interventional and other modes of therapy.

The treatment of this condition is difficult and may occasionally be compounded by the prob-lem of associated tethered cord syndrome.1,2,6 Until now, according to the diagnostic criteria of Kissel and Dureux,7 the size and appearance of the skin nevus may vary, but the segmental level must correspond, within a segment or two, with that of the spinal angioma. At times, it might be accompanied by visceral angioma-tosis. Furthermore, the size and appearance of the spinal angioma might vary; however, it must not be angioblastic.7 It is imperative to point out that the blood supply to the vertebrae and spinal cord (embryologically) originates from the segmental dorsal arteries,

From the Department of Dermatology and STD, Maulana Azad Medical College and associated Chacha Nehru Children Hospital, New Delhi, India;1 Dermato-Venereology (Skin/VD) Center, Sehgal Nursing Home, Delhi, India;2 and the Department of Dermatology and STD, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India3

Address for correspondence: Kabir Sardana, MD, Sec 28, HNO 466, NOIDA,UP 210 303, India E-mail: [email protected]

A 4-year-old girl was noted to have a birthmark over the thoracolumbar region at birth. Her mother had experienced a normal pregnancy, labor, and delivery. The lesion gradually expanded in size, with associated swelling of the underlying skin. The patient visited a peripheral health center where an initial diagnosis of a skin-covered lumbar mass suggestive of a subcutaneous lipoma was considered. At 8 months, the child developed progressive weakness of the lower limbs and urinary and fecal incontinence. Examination of the affected area revealed a conspicuous 10 × 12-cm port-wine stain and swelling covering the back, between T5 and T12 (Figure 1). There was no apparent bruit, thrill, or raised temperature. There was a soft underlying mass suggestive of a lipoma. The child had severe spastic paraparesis in the lower extremities, with a very limited ability to lift her limbs, no muscle contractions or atrophy, with marked bladder/fecal dysfunction. She was examined by magnetic resonance imaging. Plain x-rays revealed a widening of the spinal canal with features suggestive of spina bifida. A Doppler study revealed a high-flow arteriovenous malformation. A T1-weighted magnetic resonance imaging scan of the thoracic and lumbar spine revealed high and low signal intensity associated with the T9–L2 vertebral bodies and T9–L2 paravertebral regions; enlargement of the spinal canal was noted, and the spinal cord was noted to be compressed (Figure 2A and B). The findings suggested vertebral, paravertebral, and spinal angiomas, with lipomyelo-meningocele and compression of the cord. Ultrasonography of the abdomen was normal. The parents were reluctant to undergo arteriography. Consequently, the patient was administered prednisolone p.o. at an initial dosage of 15 mg/d (2 mg/kg every 24 hours in divided doses, 4–6 hourly). Paraparesis partially improved with some regression of the port-wine stain. In view of the size of the underlying angioma and pressure effect, a consultation by pediatric neurosurgeons was performed. Endovascular embolization with surgical reduction of the lipomyelomeningocele was contemplated, but the associated risk and chance of recurrence/incomplete response proved to be a deterrent to the parents.

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Cobb Syndrome in an Indian GirlKabir Sardana, MD;1,2,3 Virendra N. Sehgal, MD;2 Supriya Mahajan, MD;1,2,3 Premanshu Bhushan, MD1,2,3

SKINmed: Dermatology for the Clinician® (ISSN 1540-9740) is published bimonthly (Jan., March, May, July, Sept., Nov.) by Le Jacq Ltd., Three Parklands Drive, Darien, CT 06820-3652. Copyright ©2005 by Le Jacq Ltd. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, or any information storage and retrieval system, without permission in writing from the publishers. The opinions and ideas expressed in this publication are those of the authors and do not necessarily reflect those of the Editors or Publisher. For copies in excess of 25 or for commercial purposes, please contact Sarah Howell at [email protected] or 203.656.1711 x106.


52 January • February 2006

which may relate to a common metameric origin of the pathologic blood vessels that cre-ate cutaneomeningospinal angiomas.3,5,7,8 It is important to recognize the coincidence of the port-wine stain and spinal vascular lesions for accurate diagnosis of this syndrome,2 because none of the common presenting symptoms, such as pain and motor deficits, are specific.5,7

The optimal management of the disease entity largely remains enigmatic1,2,6,7 because of its rarity and poorly understood patho-physiology. The understanding of the latter might be facilitated by adopting selective spinal angiography and embolization pro-cedures, since spinal angiomas have a blood supply distinct from that of the normal spinal cord.2,5 With the recent advent of endovascular techniques, endovascular ther-apy has become the treatment of choice for various kinds of spinal arteriovenous malfor-mations.2,6,8 Accordingly, N-butyl-2-cyano-acrylate has frequently been used for liquid

embolization of these lesions.9,10 This less invasive procedure is suitable for a pediatric age group with Cobb syndrome, in particu-lar, because total excision of the widespread angiomas may be impossible and carries an unacceptably high risk.5 Recent improve-ments in microcatheters with softer tips and microguidewires with better steerability have enabled selective catheterization of a feeding artery, even in infants.1,2 Therefore, endovas-cular embolization is considered a reasonable and effective treatment for an infant with Cobb syndrome.1,2

Cobb syndrome is considered the spinal vari-ant of the more widely recognized cranial form of the Sturge-Weber syndrome, cutaneo-meningeal angiomatosis. One wonders why the spinal location in this disorder is so much less prevalent than that of the cranial form and whether the embryologic process is the same irrespective of location.7 Although the mechanisms underlying spinal cord symp-toms in Cobb syndrome remain unknown, cord compression by spinal angioma, venous hypertension, or blood steal phenomenon may play a critical role.2,6 In the present case, a preprocedural magnetic resonance imaging scan revealed compression and some atrophy of the spinal cord as a result of the extensive angiomas within the spinal canal. Cord com-pression by spinal angioma per se may not be the sole dominant mechanism underlying the spinal cord symptoms.2,8 Other factors specu-lated are compression, venous hypertension, and steal phenomenon.1–3 Successful treat-ment in every spinal vascular malformation requires correct understanding of the lesion’s anatomic location and its angioarchitecture, as well as the limitations of both surgery and endovascular embolization.2

Another important lesson learned from this case is the usefulness of corticosteroid therapy. Systemic corticosteroid therapy was reported to be effective in complicated cuta-neous angiomas such as Kasabach-Merritt syndrome.1,11 Although the mechanism of therapeutic efficacy remains unknown, life-threatening hemangiomas in children have been treated successfully by arterial liga-tion combined with prednisolone therapy.11 Corticosteroid therapy before embolization of such a widespread angioma, with careful monitoring of adverse effects and rebound

Figure 1. Port-wine stain with associated swelling, located between T5 and T12 on the back

Figure 2. A) T1-weighted and B) gadolinium-enhanced magnetic resonance imaging scans revealing high and low signal intensity associated with the T9(*)–L2 vertebral bodies (suggesting vertebral angioma), T9–L2 paraverte-bral lesions (open arrows), and the T5–L3 spinal canal (arrowheads), suggesting a huge vascular malformation. Signal voids were obtained in the paravertebral angiomas, suggesting vascular malfor-mation (arrows)



53January • February 2006

REFERENCES 1 Soeda A, Sakai N, Iihara K, et al. Cobb syn-

drome in an infant: treatment with endovas-cular embolization and corticosteroid therapy: case report. Neurosurgery. 2003;52:711–715.

2 Bao YH, Ling F. Classification and therapeutic modalities of spinal vascular malformations in 80 patients. Neurosurgery. 1997;40:75–81.

3 Brant AJ, James HE, Tung H. Cutaneomeningo-spinal angiomatosis (Cobb syndrome) with teth-ered cord. Pediatr Neurosurg. 1999;30:93–95.

4 Cobb S. Hemangioma of the spinal cord: associ-ated with skin nevi of the same metamere. Ann Surg. 1915;62:641–649.

5 Doppman JL, Wirth FP Jr, Dichiro GD, et al. Value of cutaneous angiomas in the arteriographic localization of spinal-cord arteriovenous malfor-mations. N Engl J Med. 1969;281:1440–1444.

6 Halbach VV, Higashida RT, Dowd CF, et al. Treatment of giant intradural (perimedullary) arteriovenous

fistulas. Neurosurgery. 1993;33:972–980. 7 Kissel P, Dureux JB. Cobb syndrome: cutaneo-

meningospinal angiomatosis. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology: The Phakomatoses. Vol 14. Amsterdam, Netherlands: North-Holland Publishing Co; 1972:429–445.

8 Miyatake S, Kikuchi H, Koide T, et al. Cobb’s syndrome and its treatment with embolization. J Neurosurg. 1990;72:497–499.

9 Rosenwasser RH. Safety of embolic materials. J Neurosurg. 1993;79:153–154.

10 Song JK, Gobin YP, Duckwiler R, et al. N-butyl 2-cyanoacrylate embolization of spinal dural arteriovenous fistulae. AJNR Am J Neuroradiol. 2001;22:40–47.

11 Weber TR, Connors RH, Tracy TF, et al. Complex hemangiomas of infants and children: indi-vidualized management in 22 cases. Arch Surg. 1990;125:1017–1021.

growth,1,11 may reduce the extent and num-ber of embolization procedures.2 Therefore, this therapy may play an important role in the management of Cobb syndrome, espe-cially in infants.

In a resource-poor setting, such as a periph-eral health center, a subcutaneous mass with an associated port-wine stain should warrant the diagnosis of Cobb syndrome; a timely intervention would be favorable.


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Cobb Syndrome in an Indian Girl