J Neurol (1996) 243 : 658-673
© Springer-Verlag 1996

H. Strenge
P. Cordes

M. Sticherling
J. Brossmann

Hemifacial atrophy:
a neurocutaneous disorder
with coup de sabre deformity,
telangiectatic naevus,
aneurysmatic malformation
of the internal carotid artery
and crossed hemiatrophy
Received: 25 September 1995
Received in revised form: 26 March 1996
Accepted: 17 April 1996

Sirs: Hemifacial atrophy occurs as a
result of various maldevelopments of
innervation or vascular supply (congenital hemifacial microsomia, progressive hemifacial atrophy) and inflammations (localised scleroderma,
bulbar poliomyelitis) [3, 9]. It comprises a group of syndromes often
occurring in association with intracerebral abnormalities. We recently
saw a patient with hemifacial atrophy and multiple neurocutaneous defects: coup de sabre deformity and
facial telangiectatic naevus associated with homolateral cerebral hemiatrophy, aneurysm of the internal
carotid artery (ICA), hypoplasia of
the middle cerebral artery (MCA)
and crossed hemiatrophy and hemiparesis of the body. As far as we
know, such an association has not
previously been reported.
The 35 year-old man was admitted to the Neurological Department
following a grand mal seizure. He
was born normally at term following
a pregnancy characterised by an imminent abortion during the 4th
month. There was no family history
of epilepsy or neurological disease.
The patient was first seen at 3
months of age because of a pronounced asymmetry of the skull and
face, including the orbits, the left

side being diminished in size. It was
noted that the child had a facial vascular naevus extending from the
hairline to the upper eyelid, just to
the left of the midline. The left palpebral fissure was slightly narrowed,
and the left corneal diameter was 11.5 m m smaller than the right. There
was no choroidal angiomatosis. Photographs taken at the time showed a
distinct furrow somewhat left to the
midline of the forehead and corresponded with the present findings.
The child did not suffer from epileptic seizures and intracranial calcification was not seen on plain radiographs of the skull. The heart, lungs
and abdomen and radiographs of the
chest and skeleton were normal. At
that time the tentative diagnosis was
Sturge-Weber syndrome.
At age 7 months it was noted that
he showed signs of developmental
retardation. Moreover, he had a
slight, spastic, right-sided arm-dominant hemiparesis. An EEG showed
patterns of left-sided parietal and occipital intermittent rhythmical theta
activity on a normal background.
The cerebrospinal fluid was normal.
At age 22 months the facial naevus
was described as being paler. Gait
evaluation showed decreased rightsided associated movements, with
slight pes equinus on the same side.
The patient was admitted to hospital
when aged 7 years because of leftsided headache. A left-sided hemifacial hypotrophy, with two parallel,
linear, pigmented sites of local atrophy in the midline of the forehead
and 2 cm lateral to the left, so-called
coup de sabre, was recorded. Investigations included normal examinations of the eyes. Skull radiographs
showed calcification of the falx, enlargement of the sella turcica and a
slight left-sided parietal protrusion
with increased transparency. The diagnosis was altered to Parry-Romberg syndrome.
When we examined the patient at
age 35 years there was a slight left-

sided hemifacial atrophy, predominantly involving the maxillary region
as well as the masseter muscle. A
circumscribed defect in the cranial
bone was present covered by hyperpigmented atrophic skin on the left
forehead extending to the frontal
processus maxillae and the ala nasi.
There was circumscribed alopecia,
and a pale telangiectacic naevus on
the left cheek reaching the upper cervical region (Fig. 1 a). Neurological
examination revealed a right hemiparesis including a slight volitional
facial paresis. Other cranial nerve
functions and extraocular movements
were normal and the pupils were of
equal size. Visual acuity and optic
fundi were normal. Assessment of
visual fields, both by confrontation
and Goldmann perimetry, revealed a
wedge-shaped defect in the temporal
field of the right eye. Graphaesthesia
and joint position sense were diminished in the right arm. Other modalities of sensation were unimpaired.
Muscle strength of the right extremities was 4/5 on a manual muscle testing scale. There was a dystonic posture of the right hand. Tendon reflexes were more active on the right.
There were no pathological reflexes
or long tract signs and the plantar responses were flexor. The right extremities were shorter, the right hand
and foot being shorter and narrower
than their left-sided counterparts.
There was no clinical evidence of
dysfunction of the autonomic nervous system. Deficits of verbal performance and verbal memory were
noted by neuropsychological testing.
The EEG revealed slowing over the
left hemisphere with a left temporal
slow wave focus and a few sharpand -slow-wave complexes. Skull radiographs confirmed the previously
noted asymmetry with irregular areas
of decreased density in the left
frontal and parietal bones, sellar erosion and multiple calcifications in
the falx. Computed tomography and
magnetic resonance imaging (Fig.

659

Fig. 1 a Left hemifacial atrophy with
coup de sabre deformity on the forehead,
circumscribed alopecia and bony malformation of the skull, b Tl-weighted, contrast-enhanced MRI (coronal view) showing enlarged left lateral ventricle with lateralization of the falx and dilatation of the
widely thrombosed internal carotid artery
(ICA) with residual contrast-enhanced vessel lumen, c Left carotid angiogram (lateral projection, early arterial phase)
demonstrates diffuse dilatation of the ICA
lb) revealed left cerebral hemiatrophy with porencephaly of the superior frontal and parietal left hemisphere widely communicating with
the markedly enlarged left ventricle.
Left temporal areas showed rarefaction of the sulci at the convexity. The
intracranial part of the ICA was enlarged over most of its length. These
findings were confirmed by intra-arterial digital subtraction angiography,
with an elongated and ectatic ICA in
the cavernous and intracerebral parts
(Fig. lc). Slow flow was observed in
the hypoplastic MCA in the late arterial phase (not shown). There was no
evidence of arteriovenous shunting.
Laboratory examinations produced normal results. In particular,
no circulating antibodies could be
found directed against nuclear antigens (extractable nuclear antigens,
double stranded DNA, histones) or
mitochondrial antigens using indirect
immunofluorescence, ELISA and
Western blot techniques.
The patient had first presented
with hemifacial atrophy with ptosis,
coup de sabre deformity and telangiectatic naevus at the early age of 3

months. Circumscribed alopecia,
progressive contralateral hemiparesis
and total hemiatrophy with slight
sensory deficits and dystonic posture
of the hand appeared at a later stage.
The combination of these signs together with documented intracranial
major vessel abnormality has not
previously been reported.
The early onset of clinical and radiological abnormalities suggests
that the cerebral hemiatrophy is best
explained by prior intrauterine ischaemia in the ICA territory due to
vascular malformation [3, 6]. As a
consequence, contralateral limb and
trunk atrophy with hemiparesis gradually developed during subsequent
growth.
The homolateral trophic and skin
abnormalities on the face share many
of the external features of both the
non-hereditary phenotypes of SturgeWeber syndrome [11] and progressive hemifacial atrophy [1, 3, 9]. In
progressive hemifacial atrophy a
coup de sabre deformity and circumscribed alopecia may typically appear in the forehead [1, 3, 14]; facial
telangiectatic naevi are the primary
clinical features of Sturge-Weber
syndrome [ 11 ]. Abnormalities and
dysfunctions of the central nervous
system have been reported in both
disorders, e.g. cerebral hemiatrophy,
enlargement of the ventricles, mental
retardation, epilepsy, hemiparesis
and hemianopia [1, 9, 11, 14]. Areas
of meningocortical dysmorphia,
cerebral microvascular malformations and calcified haemangiomata

are occasionally found in progressive
hemifacial atrophy [ 1].
The recurring themes in the literature on the pathogenesis of progressive hemifacial atrophy include linear scleroderma [4], chronic inflammatory processes [8, 14], trauma [5]
and defects of vascular supply [7,
12]. Circumscribed scleroderma may
not entirely be ruled out in our patient, although circulating antinuclear
antibodies could not be detected.
There are occasional reports that
suggest that lesions of the homolateral cervical sympathetic innervation, either central or peripheral, may
be involved in the pathogenesis of
progressive hemifacial atrophy [10].
Interestingly, a telodiencephalic ischaemic syndrome, characterised by
homolateral sympathetic deficits,
contralateral hemiparesis and occasional hemianopia due to infarction
of the ICA has previously been described [13]. In supratentorial
strokes, lesions can reach subcortical
areas affecting homolateral, uncrossed cortico-hypothalamic and
hypothalamo-spinal sympathetic
pathways [2]. In this patient, both the
transient homolateral ptosis, suggesting a slight sympathetic dysfunction,
and the contralateral delayed-onset
dystonia of the hand could serve as
an indication of ischaemic subcortical involvement including striatal or
diencephalic regions.
In conclusion, this case suggests a
developmental disorder with vascular
dysplasia as the common thread for
the overlapping phenotypic features.
A neurovascular aetiology has been
hypothesised both in progressive
hemifacial atrophy [7] and linear
scleroderma en coup de sabre [4] as
well as in the Sturge-Weber syndrome [ 11 ]. The spectrum of neurocutaneous signs possibly represents a
phenotypic continuum, which in turn
points to a common pathogenetic
process of congenital dysplastic abnormalities involving both the skin
and the nervous system.

Acknowledgements The authors thank
G. Ciriack and H. Neubert for their technical assistance.

660

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H. Strenge • P. Cordes
Klinik ffir Neurologie, Universit~it Kiel,
Kiel, Germany
M. Stichefling
Klinik ftir Dermatologie,
Venerologie und Allergologie,
Universit~it Kiel, Kiel, Germany
J. Brossmann
Klinik ftir Radiologische Diagnostik,
Universit~it Kiel, Kiel, Germany
H. Strenge (N~)
Institut ftir Medizinische Psychologie,
Universit~tt Kiel, Niemannsweg 147,
D-24105 Kiel, Germany
Fax: +49-431-597/2711

Bernd Kitze
Sibylle Herzog
Peter Rieckmann
Sigrid Poser
Jiirgen Richt

No evidence of Borna disease
virus-specific antibodies
in multiple sclerosis patients
in Germany
Received: 21 November 1995
Received in revised form: 27 Mgrz 1996
Accepted: 11 April 1996

Sirs: Borna disease virus (BDV)
causes chronic inflammatory central
nervous system (CNS) diseases in
naturally infected animals. BDV infections are endemice among horses
and sheep in Central Europe [18].
Furthermore, several animal species
can be infected experimentally and
develop a spectrum of neuropsychiatric symptoms related to the virus
isolate and certain host factors [13].
Borna disease results from the persistent intrathecal viral replication
and the immune response against
BDV antigens [14]. BDV is highly
neurotropic and has recently been
shown to be a negative, singlestranded R N A virus with a non-seg-

mented genome of approximately 9
kb in size and with a genomic organization similar to members of the
order Mononegavirales [5, 7, 12].
BDV replicates in cell nuclei of
neural origin [6], and RNA splicing
contributes to the generation of mature BDV-specific mRNAs. These
unique features of a highly neurotropic RNA virus distinguish BDV
from all other known mammalian
R N A viruses.
Inflammatory CNS diseases can
be experimentally induced in persistently BDV-infected, but initially
symptomless rats by adoptive transfer of virus-specific CD4+Thl lymphocytes, whereas T-cell transfer before infection protects against disease [14]. There are several reasons
for investigating a possible involvement of BDV infection in human
chronic inflammatory diseases of the
CNS: the wide host range and various neuropsychiatric disease patterns
observed in naturally and experimentally infected animals; the detection
of BDV-specific antibodies in sera
[1, 2, 15, 16, 17] and of BDV antigens as well as BDV-specific R N A
in peripheral blood monocytes [4]
from psychiatric patients; and the
immunopathological mechanisms of
CNS inflammation in BDV-infected
animals [14]. A recent report of
BDV seroprevalence in patients with
multiple sclerosis (MS) and other
chronic CNS diseases [3] has drawn
our attention to a possible BDV infection in MS. This possible association is intriguing because two frequently discussed pathomechanisms
in MS are intrathecally persisting viral infection and immunopathologically induced inflammation and demyelination.
We analysed paired cerebrospinal
fluid (CSF) and serum in 19 German
MS patients and serum in an additional 31 MS patients. All patients
had been diagnosed as having definite MS according to widely accepted
criteria [10]. The samples had been
taken as part of routine clinical investigations. CSF and serum analysis
was performed to support the clinical