J Neurosurg (Spine 1) 93:133136, 2000

Neurocutaneous vascular hamartomas

mimicking Cobb syndrome

Case report

YUKIHIRO WAKABAYASHI, M.D., PH.D., MITSUO ISONO, M.D., PH.D.,

TSUYOSHI SHIMOMURA, M.D., ATUSHI TAJIMA, M.D., HIROTO TERASHI, M.D.,
YUUJI ASADA, M.D., TATSURO IZUMI, M.D., PH.D., AND SHIGEAKI HORI, M.D., PH.D.
Departments of Neurosurgery, Pediatrics, and Dermatology, Oita Medical University, Oita, Japan

 The authors report the rare case of a patient with neurocutaneous vascular hamartomas mimicking Cobb syndrome.
An 8-year-old boy was admitted to the authors hospital with progressive urinary disturbance and upper back pain.
Multiple skin nevi had been noted at the childs birth. Radiological examination revealed multiple cavernous angiomas
in the spinal cord in the same metamere in which the skin nevi had been observed and also in the left cerebral hemi-
sphere. His symptoms gradually improved without surgical intervention. Four years later he was readmitted because
of a cerebral hemorrhage involving the left cerebral peduncle. Nonsurgical treatment was chosen because his symp-
toms promptly improved.
To the best of the authors knowledge, this is the first case of multiple cavernous angiomas in the brain and spinal
cord associated with skin nevi. The authors discuss this clinical entity and the significance of the disease.

KEY WORDS Cobb syndrome cavernous angioma vascular malformation

hamartoma neurocutaneous syndrome

HE coexistence of vascular malformations involving
T the skin and the CNS is uncommon but has long
been recognized. These conditions include phaco-
matosis, such as WeberOslerRendu disease, and sever-
al syndromes of neurocutaneous vascular hamartomas,
such as WyburnMason syndrome.2,8,9 Cutaneomeningo-
spinal angiomatosis (Cobb syndrome) is one of the latter
conditions that manifests a cutaneous nevus and spinal
angioma in the same metamere.2,3 We present the case of
an 8-year-old boy with neurocutaneous vascular hamar-
tomas mimicking Cobb syndrome. In this patient, the an-
giomatosis involved multiple intracranial lesions, a find-
ing that has not been reported in association with Cobb
syndrome. We discuss the clinical entity and significance
of this disease.
Case Report
First Examination. This 8-year-old boy was admitted to
our hospital in July 1994 because of a progressive urinary
Abbreviations used in this paper: CNS = central nervous system;
CT = computerized tomography; MR = magnetic resonance.
disturbance and upper back pain. Multiple skin nevi were
noted; an angiokeratoma had been diagnosed at birth. Ad-
mission CT scanning revealed multiple angiomas in his left
cerebral hemisphere. There had been no family history of
angiomatosis. Prior to presentation he had been otherwise
healthy and normal mental development was shown.
On admission, he complained of mild upper back pain,
constipation, and difficulty in initiating urination. Multiple
angiokeratomas were identified in the right C4T1, S34,
and the left L34, S14 areas (Fig. 1). Neurological exam-
ination revealed a slight paraparesis with pyramidal tract
signs, sensory disturbance in the left S-1 area, and an ab-
sence of the superficial reflex. Magnetic resonance imaging
of the cervicothoracic spine revealed intramedullary cav-
ernous angiomas at C57 and T13 (Fig. 2 upper left and
right). The T13 angioma showed high intensity on both
T1- and T2-weighted MR images (Fig. 2 upper left and
right). These findings indicated that bleeding from the
T13 angioma contributed to the symptoms. Magnetic res-
onance imaging of the thoracic and lumbar spine revealed
additional multiple angiomas in the conus medullaris (Fig.
2 lower left and right). Brain MR images demonstrated
multiple cavernous angiomas in the left cerebral hemi-
sphere (Fig. 3 left), but no lesion in the left cerebral pedun-

J. Neurosurg: Spine / Volume 93 / July, 2000 133


FIG. 1. Whole-body photographs of the patient on admission.
Angiokeratoma existed in the area of the dermatome in the right
C4T1, S34, and left L34, S14 areas.
134
Y. Wakabayashi, et al.
FIG. 2. Magnetic resonance imaging studies. Upper: A T1-
weighted (left) and a T2-weighted (right) MR image obtained in
the cervicothoracic spine, revealing intramedullary cavernous
angiomas at C57 and T13. The T13 angioma showed high
intensity on both T1- and T2-weighted images. Lower: A T1-
weighted (left) and a T2-weighted (right) MR image obtained in the
thoracolumbar spine, revealing cavernous angiomas in the conus
medullaris.
cle (Fig. 3 right). Angiographic study of the brain and spine
revealed no abnormal vascularity. Additional radiological
and physiological examinations demonstrated no other
angiomas.
The patients symptoms gradually improved without
surgical intervention, and he was discharged 3 months la-
ter. At this time he was completely independent, but slight
sensory disturbance in his left foot and a positive patho-
logical reflex in both lower extremities were shown.
His subsequent clinical course was uneventful for 4
years. During this time, he underwent an operation to re-
move partially an angiokeratoma in his left leg because of
progressive pain in the adjacent area.
J. Neurosurg: Spine / Volume 93 / July, 2000
Neurocutaneous vascular hamartoma

FIG. 3. Left: Axial T2-weighted images demonstrated at least four cavernous angiomas in the left cerebral hemisphere
and hypothalamus. Right: No lesion was observed in the left cerebral peduncle.

FIG. 4. Plain CT scans obtained at readmission, revealing an irregular hemorrhage in the left hypothalamic region and
extending to the left cerebral peduncle.

Second Examination. He was again admitted to our hos-
pital in September 1998. He had suffered from head-
ache and a right-sided hemiparesis for 3 days before ad-
mission. On admission he was alert but complained of
mild headache and nausea. Neurological examination re-
vealed a right-sided hemiparesis and pathological reflexes
in his right extremities, but otherwise he was normal. A
CT study revealed an irregular hemorrhage involving the
left cerebral peduncle, hypothalamus, and suprachiasmat-
ic and interpeduncular cisterns (Fig. 4). Nonsurgical treat-

J. Neurosurg: Spine / Volume 93 / July, 2000 135


FIG. 5. Follow-up T1- (upper) and T2- (lower) weighted MR
images obtained 3 months after the second admission, indicating the
small angioma in the left midbrain, contributing to the hemorrhage.
ment was again chosen because his symptoms promptly
improved. After 2 weeks, his right-sided hemiparesis was
nearly diminished, and after 5 weeks he was discharged
with only slight motor weakness in his right hand. Follow-
up MR imaging performed 3 months after admission indi-
cated that the small angioma in the left midbrain con-
tributed to the hemorrhage (Fig. 5).
Discussion
The clinical characteristics observed in our case were as
follows: multiple angiomatosis involving the skin and the
CNS including the brain and spinal cord; no affliction of
other organs, such as the retina or abdominal viscera; no
evidence indicating hereditary disorders; and skin and
spinal cord angiomas in the same metamere, although
lacking a definite anatomical diagnosis.
Cobb syndrome has been known as a neurocutaneous
vascular malformation. The diagnostic criteria have been
defined as the coexistence of spinal and cutaneous an-
giomas in the same metamere. It is also known that the size
and appearance on the skin lesion may vary, and spinal
cord angiomas must not be angioblastic.3 This condition is
136
Y. Wakabayashi, et al.
relatively rare, and only 29 cases have been reported.2,5
There has been no report of this syndrome in association
with intracranial lesions. Because patients with this condi-
tion usually manifest myelopathy and because certain cases
were diagnosed before the availability of CT scanning,
thorough investigations may not have been conducted in
certain cases.
Other possible clinical entities are familial cavernous
malformations of the CNS and retina (IrvineGass syn-
drome) and Klippel-Trenaunay-Weber syndrome.1,4,6,7 The
clinical characteristic of the former condition in angioma-
tosis of the brain. Occasionally, in this syndrome cutaneous
involvement may be present.1 However, the condition must
involve retinal angiomas and a familial incidence, which our
patient lacked.1 In the latter condition both intracranial and
intraspinal angiomas may be present. However, this syn-
drome usually involves viscera and hypertrophy of skeletal
bones.4,6,7
Therefore, our patients symptoms most likely mimic-
ked those found in Cobb syndrome.
References
1. Dobyns WB, Michels VV, Groover RV, et al: Familial cav-
ernous malformations of the central nervous system and retina.
Ann Neurol 21:578583, 1987
2. Jessen RT, Thompson S, Smith EB: Cobb syndrome. Arch
Dermatol 113:15871590, 1977
3. Kissel P, Dureux JB: Cobb syndrome. Cutaneomeningospinal
angiomatosis, in Bruyn GW, Vinken PJ (eds): Handbook of
Clinical Neurology. New York: North Holland, 1972, Vol 14,
pp 429445
4. Klippel M, Trenaunay P: Du naevus variquex osteo-hyper-
tropique. Arch Genet Med 3:641672, 1900
5. Miyatake S, Kikuchi H, Koide T, et al: Cobbs syndrome and its
treatment with embolization. Case report. J Neurosurg 72:
497499, 1990
6. Weber FP: Angioma formation in connection with hypertrophy
of limbs and hemihypertrophy. Br J Dermatol 19:231235,
1907
7. Weber FP: Hemangioectatic hypertrophy of limbs. Congenital
phlebarteriectasia and so-called congenital varicose veins. Br J
Child Dis 15:1317, 1918
8. Wyburn MR: Arteriovenous aneurysm of midbrain and retina,
facial naevi and mental changes. Brain 66:163203, 1943
9. Wyburn MR: The Vascular Abnormalities and Tumours of
the Spinal Cord and Its Membranes. London: H Kimpton,
1943, p 196
Manuscript received November 19, 1999.
Accepted in final form March 6, 2000.
Address reprint requests to: Yukihiro Wakabayashi, M.D., De-
partment of Neurosurgery, Oita Medical University, 1-1 Idaigaoka,
Hasama-machi, Oita-gun, Oita 879-5593, Japan.
J. Neurosurg: Spine / Volume 93 / July, 2000