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8.1.3 Associated Cavernomas
The possible association of DVAs in adults with cavernous malformations has suggested the malformative nature of DVA: the cavernous
malformation creates the need for an anatomic adaptation at the venular
level and induces the DVA pattern that corresponds to an associated malformation.We certainly do not share this analysis; in practice,most DVAs
in children are not associated with cavernous malformations.Cavernous
malformations alone do exist in children and can produce hemorrhage
(often intraventricular) or seizures (Figs. 8.15,8.16); they are very rarely
associated with a DVA.
Kutscher et al. (1987) reported a 3.5-year-old child who presented with
a posterior fossa hematoma and a DVA. The blood clot was removed at
surgery, along with a lesion that showed evidence of recent and old
473Associated Cavernomas
Fig. 8.13. A, B A young
child presenting with an usual
midline cortical vein with an
overall appearance compatible
with a diagnosis of complex
developmental venous anomaly
(DVA) of the entire hemisphere.
C Among other findings,note
the polymicrogyria at the level
of the venous anomaly
8Venous Anomalies and Malformations474
Fig. 8.14A,B. An 8-year-old boy with a neonatal monoparesis. Convulsions developed during infancy. There is a moderate lower left limb hypotrophy. A Note the
schizencephalic cleft with B the peculiar appearance of the veins on both lips
Fig. 8.15A,B. A 12-year-old boy presenting with a single partial motor seizure. Small
subcortical cavernoma clearly seen on CT and MRI with evidence of old hemorrhage
hemorrhage.After surgery,the DVA was still present; a cavernous malformation was probably associated with the DVA, since the latter does not
usually present with features of old hemorrhage.
It can be postulated that the particular hemodynamic conditions created by the DVA (among other possible factors with supposedly normal
venous anatomy) are capable of triggering an underlying defect and reveal it as a cavernoma over time. The potentially multifocal character of
the disease (Fig. 8.17) and the familial possibilities associated with the
genetic site on chromosome 7q11.2-q21 (Günel 1995) are illustrated by
cases seen in the pediatric population at the brain and cord level.The revealing trigger is still unknown in these patients. Subependymal locations causing intraventricular hemorrhage are not rare.Large lesions can
be seen in children. In adults,the association of a DVA and an intracerebral hematoma is almost always related to one or multiple cavernous
malformations (Figs. 8.18, 8.19; Odom et al. 1961; Roda et al. 1988;
Numaguchi et al. 1982).
The association of DVA with an arteriovenous malformation (AVM)
(Fig. 8.4) is a rare occurrence, which when present in the same area,
creates a difficult therapeutic challenge (see Chap. 5,this volume).
475Associated Cavernomas
Fig. 8.16A,B. An 8-year-old girl with a sudden onset of headaches. Large, deepseated cavernoma A before and B after surgical removal
8Venous Anomalies and Malformations476
Fig. 8.17A–C. A 2-year-old girl
presenting with generalized
seizures. Multifocal cavernomas
with an intralesional hematoma
in the frontal lobe are seen on
A CT and B, C MRI. Secondary
familial investigations suggested multifocal familial cerebral
cavernomatous malformations
477Associated Cavernomas
Fig. 8.18A,B. Asymptomatic appearance of cavernoma (A, B) in a young child also
presenting a dural AVS and a pial nidus
Fig. 8.19A–B. Legend see p. 478
8.2 Segmental and Nonsegmental Cerebro-orbito-facial
Venous Lesions
8.2.1 Sturge-Weber Syndrome
In the past few years, the classic presentations of the various phacomatosis or neural crest disorders have been revisited.These classic syndromes
can no longer be discussed without taking into consideration recent genetical or biological contributions (Henkemeyer et al. 1995; Eerola et al.
2003). Signaling mechanisms and postmigration changes must be recognized prior to any potential therapeutic application (preventive,conservative, or reconstructive) of the mutations encountered.Many of the latest
discoveries offer updated classifications with modern nosological discussions and ultimately therapeutic opportunities. Our purpose is to contribute to the metameric approach of some venous cerebrofacial vascular
syndromes in an attempt to overcome the therapeutic challenge.
In 1860, Schirmer described the coexistence of port-wine stains and
buphthalmus.Nineteen years later,Sturge (1879) reported a case that had
an extensive port-wine stain of the right face and head with a right-sided
buphthalmus,as well as a seizure attack.He also found a vascular malformation involving the ipsilateral brain. Cushing (1906) pointed out the
tendency of the port-wine stains to follow the distribution of branches of
the trigeminal nerve, yet Alexander and Norman (1960) did not support
this relation. The atrophy of the affected cerebral hemisphere was first
suggested by Weber in 1922 using X-ray examinations of the skull. In
1936, Bergstrand et al. illustrated the pathological characteristics,
the clinical manifestations,as well as surgical indications and coined the
currently accepted eponym Sturge-Weber disease in 1935.
Port-wine stains are localized dermal venular malformations,which affect 0.3% of the general population at birth (Jacobs and Walton 1976).
8Venous Anomalies and Malformations478
Fig. 8.19A–C. A young adult
presenting with multiple
images of venous origin over
time.A Note the medial frontal
developmental venous anomaly
(DVA) on one side.B, C There
is an associated cavernoma in
the vicinity of the DVA. There
is some degree of atrophy
around the DVA–cavernoma
region
Although they may occur anywhere, the face and neck represent the most
frequent locations (Knudsen and Alden 1979).The progression of these skin
lesions is not clear.They usually remain stable.These discolorations have to
be distinguished within the birthmark group,which have an even higher incidence (30% of newborns) and from the skin discoloration of subcutaneous hemangiomas. According to Wisnicki, roughly 1%–2% of port-wine
stains will be part of the Sturge Weber syndrome (Stevenson et al. 1974).
This “encephalotrigeminal angiomatosis is a nonfamilial disease with
a skin discoloration (port wine) in the V1 territory associated with a calcified leptomeningeal venous malformation of the ipsilateral supratentorial hemisphere”(Andre 1973). Symptoms appear before the 2ndyear of
life and include the cosmetic and neurological problems,related to subjacent cerebral atrophy leading to epilepsy, deficits, and mental retardation
(Fig. 8.20). The lesions do not bleed except when they involve the oral
cavity or the pharynx. They in turn need to be differentiated from the
479Sturge-Weber Syndrome
Fig. 8.20A–D. An 11-year-old
girl presenting with a rightsided port-wine stain and first
convulsion at the age of 5 years.
Sturge-Weber syndrome was
diagnosed. Since then,she
has had episodes of intense
right-sided headaches with
no evidence of intracranial
hemorrhage. MRI findings
are typical of Sturge-Weber
syndrome with transcortical
venous drainage and moderate
frontal bone hypertrophy
gingivitis related to antiepileptic medications. Glaucoma occurs in onethird of patients with Sturge-Weber syndrome due to the presence of a
retinal (most likely choroid) vascular malformation of the venous type.
This facial vascular malformation is usually unilateral, but it can involve
the midline and is reported to extend to the chest, trunk, and limbs in
some cases (Figs. 8.21, 8.22). In exceptional cases they can be bilateral.
They are often associated with progressive thickening of the skin and
subcutaneous layers as well as facial capillary-venous malformations
with subjacent lymphatic malformation.In such cases,overgrowth of the
underlying facial skeletal structure is demonstrated, which often results
in facial asymmetry and dental malocclusion (Figs. 8.23,8.24). Port-wine
stains usually remain stable and do not bleed.They are usually not associated with DVAs. While most port-wine stains are isolated vascular
abnormalities, they may be associated with an underlying vascular malformation or a more complex dysmorphogenesis. Similar to the PWS,
the venolymphatic malformations can involve the midline and have been
reported to extend to the chest, trunk, and limbs in some series. Portwine stains over the spine may be associated with underlying spinal dysraphism or myelomeric AVMs (see below and Chap. 15, this volume).
Their incidence is unclear and ranges from 1:5,000 to 1:10,000 births and
are without gender dominance.
About one-third of the patients with Sturge-Weber Syndrome (SWS)
have ocular and/or orbital abnormalities: choroid venous malformation,
congenital glaucoma with enlargement of the globe (buphthalmus),optic
8Venous Anomalies and Malformations480
Fig. 8.21A,B. Maxillofacial port-wine stain. No venous abnormality could be found
on the intracranial studies in both patients.The degree of pigmentation does not parallel the clinical tolerance or extension of the disease spectrum
disc colobomas, and cataract. Intracranial manifestations are generally
not present in patients with port-wine stains confined to the lower and
mid face area.
In fact,associated intracranial vascular abnormalities in SWS consist
of cortical venous thrombosis with capillary venous proliferation and
enlargement of the transmedullary collateral venous drainage with or
without choroid plexus hypertrophy (Fig. 8.25).Typical CT or MRI findings include gyral enhancement with enlargement and enhancement of
the ipsilateral choroid plexus. Occlusion of venules at the level of the
brain with early failure of the venous drainage produces cortical calcifications at the primary site of ischemia and secondarily melting-brain
syndrome, brain atrophy, which points to the precocity of the ischemic
process, resulting in seizure, focal neurological deficits, and mental retardation. This collateral pattern in particular cannot be confused with a
DVA, although it recruits transmedullary veins. Associated choroid
plexus hypertrophy is unlikely to be related to the collateral circulation
development, but rather to the choroid vein impact of the same venous
disease during embryology.
A case of Sturge-Weber syndrome diagnosed in a neonate on the basis
of a characteristic port-wine stain was not initially associated with any
acute neurologic findings. MR images obtained when the infant was
3months of age showed a typical pial vascular dysplasia,as well as prominent hypotrophy of the ipsilateral hemisphere.Areas suggesting the pres-
481Sturge-Weber Syndrome
Fig. 8.22A,B. Diffuse bilateral
port-wine stain associated
with right-sided CVMS 2
ence of developmental dysplasia of the cerebral mantel were found in association with the typical pial vascular abnormality.The prenatal effect of
Sturge-Weber disease on normal brain development is best evaluated with
improved cerebral imaging shortly after birth (Portilla et al. 2002).
On early MR images, the brain parenchyma usually has normal myelination or slight hypermyelination in the centrum semiovale on the side
involved.According to single photon emission CT (SPECT) results, cerebral blood flow is increased during the early asymptomatic period,
whereas hypoperfusion and cerebral atrophy develop after the first hemiconvulsive episode or after the 1st year of life in children who do not have
epileptic degradation (Pinton et al. 1997). Thus, venous stasis and recurrent episodes of venular thrombosis are presumably the main factors re-
8Venous Anomalies and Malformations482
Fig. 8.23A–C. Bony involvement in a CVMS 2.The
maxillary hypertrophy (A,B)
has induced an abnormal
growth of the ipsilateral
mandible (C)
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