A previously healthy 9-year-old boy presented with acute paraparesis, paresthesia, and the inability to urinate. For 4 days prior to presentation, the patient described pain in the neck and upper back. His medical history is significant for recurrent unexplained epistaxis and a maternal history of recurrent epistaxis. On physical examination, no skin lesions were noted. Lower extremity testing revealed paraplegia, hyperreflexic patellar responses, and the plantar response was extensor. Cremasteric and superficial abdominal reflexes were absent, and there was a sensory level at T6. MR imaging of the cervicothoracic spine and contrast-enhanced MR imaging of the brain were performed, followed by conventional cerebral angiography.
A previously healthy 9-year-old boy presented with acute
paraparesis, paresthesia, and the inability to urinate. For 4 days
prior to presentation, the patient described pain in the neck and
upper back. His medical history is significant for recurrent
unexplained epistaxis and a maternal history of recurrent
epistaxis. On physical examination, no skin lesions were noted.
Lower extremity testing revealed paraplegia, hyper-reflexic
patellar responses, and the plantar response was extensor.
Cremasteric and superficial abdominal reflexes were absent, and
there was a sensory level at T6. MR imaging of the cervicothoracic
spine and contrast-enhanced MR imaging of the brain were performed,
followed by conventional cerebral angiography.
Hereditary hemorrhagic telangiectasia (HHT) manifested by spinal
cord hemorrhage and vascular malformations in the nasal mucosa and
The lesions in the cervical and thoracic cord are consistent
with intramedullary foci of subacute hemorrhage associated with
cord edema (figure 1). The left frontal lesion may be a small
cavernous hemangioma or what has been called an "indeterminate"
cerebrovascular malformation (vide infra) (figure 2). The lesion in
the left nasal cavity is consistent with a vascular malformation
and is the cause of recurrent epistaxis, the most common clinical
mani-festation of HHT (figure 3).
Hereditary hemorrhagic telangiectasia, also known as
Rendu-Osler-Weber disease, is a hereditary disorder charac-terized
by telangiectasias of the skin and mucosa, and vascular
malformations in multiple organs. The primary lesion of HHT is the
mucocutaneous telangiectasia, a vascular dysplasia typified by
dilated and convoluted veins that often connect directly to dilated
The other prominent vascular lesion in HHT is the arteriovenous
fistula or malformation (AVM), which consists of a direct
connection between arteries and veins but is much larger than the
HHT is inherited in an autosomal dominant pattern. Recent genetic
studies have linked mutations in the endoglin gene, a cell-surface
com-ponent of the beta transforming growth factor, to be
responsible for some familial forms of HHT.
The clinical diagnosis of HHT is based on the presence of any two
of the following: recurrent epistaxis, telangiectasias, evidence of
familial in-heritance, and visceralinvolvement.
A variety of neurologic manifestations (including headache,
transient ischemia, stroke, seizure, intracerebral and subarachnoid
hemorrhage, and brain abscess) have been attributed to pulmonary
arteriovenous fistula (PAVF), primary AVM in the brain, AVM of the
spinal cord, or portosystemic encephalopathy in patients with HHT.
Any given patient may have one or more of these lesions. A PAVF may
result in neurologic symptoms because of vascular shunting, air
embolism, paradoxical embolism, or brain abscess. Various cerebral
vascular malformations have been described in patients with HHT and
include telan-giectasia, cavernous hemangioma, pial AVM, saccular
aneurysm, and carotid-cavernous fistula.
Primary cerebral vascular malformations can cause headache,
seizures, and stroke after they hemorrhage into the brain or
subarachnoid space. Approximately two-thirds of all neurologic
manifestations of HHT are attributed to complications of PAVF and
one-third are due to cerebral or spinal AVMs.
Fulbright et al
have reported the prevalence and types of 63 cerebral vascular
malformations seen on MR imaging and angiography in 42 patients
with HHT. In this series, "indeterminate" cerebral vascular
malformations made up 76% of the lesions and are a heterogeneous
group of lesions. These malformations are small (5 to 15 mm) ovoid
lesions that variably enhance, and may have high, low, or mixed
signal intensity on T2-weighted images. Some of these lesions have
features of cavernous malformations, but Fulbright and colleagues
believe that they represented small AVMs with abnormal
arteriovenous architecture characteristic of vascular lesions found
in other organs in patients with HHT. The left frontal lobe lesion
in our patient is similar to the "indeterminate" vascular
malformation described by these authors.
Vascular malformations of the spinal cord are much rarer central
nervous system manifestations of HHT. In a review of the neurologic
manifestations of HHT, Roman et al
found only 17 documented cases of vascular malformations of the
spinal cord reported in the literature. Using selective spinal cord
angiography, Djindjian et al
found 7 cases of spinal AVM in HHT among 150 medullary angiomas.
These lesions were usually found in the dorsal thoracic cord.
Transient paresis, sensory disturbances, anal and bladder
dysfunction, muscle wasting, and complete paraplegia may result
from shunting of blood, ischemia, mass effect, subarachnoid
hemorrhage, or thrombosis. The cord lesions in this case lack one
of the typical MR imaging findings described for spinal AVMs, since
there were no serpiginous intradural vascular flow voids encircling
the cord. In the case of a small AVM, the nidus is not usually seen
on MR imaging, although the enlarged feeding arteries and draining
veins are often evident and diffuse increased signal in the cord on
T2-weighted images is also common. This latter finding has been
attributed to venous hypertension.
We believe that the two intra-medullary lesions in this case
probably represent minute "indeterminate" vascular malformations,
as described by Fulbright et al
in the cerebrum of patients with HHT, or cavernous hemangiomas.
1. Guttmacher AE, Marchuk DA, White RI Jr: Hereditary
hemorrhagic telangiectasia. N Eng J Med 333:918-924, 1995.
2. Rius C: Cloning of the promoter region of human endoglin, the
target gene for hereditary hemorrhatic telangiectasia type 1. Blood
3. Roman G, Fisher M, Perl DP, Poser CM: Neurological
manifestations of hereditary hemorrhagic telangiectasia
(Rend-Osler-Weber Disease): Report of 2 cases and review of the
literature. Ann Neurol 4:130-144, 1978.
4. White RI Jr, Lynch-Nyhan A, Terry P, et al: Pulmonary
arteriovenous malformations: Techniques and long-term outcome of
embolotherapy. Radiology 169:663-669, 1988.
5. Fulbright RK, Chaloupka JC, Putman CM, et al: MR of
hereditary hemorrhagic telangiectasia: Prevalence and spectrum of
cerebrovascular malformations. Am J Neuroradiol 19:477-488,
6. Djindjian R: Spinal vascular malformations. J Neurosurg
7. Djindjian R: Angiography of the Spinal Cord. University Park
Press; Baltimore, 1970.
8. Friedman DP, Flanders AE,Tartaglino LM: Vascular neoplasms
and malformations, ischemia, and hemorrhage affecting the spinal
cord: MR imaging and findings. AJR Am J Roentgenol 162:685-692,
Prepared by David Hou, BS, and Glenn A. Tung, MD, of the
Department of Diagnostic Imaging, Brown University School of
Medicine and Rhode Island Hospital, Providence, RI.