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Developmental Foix-Chavany-Marie syndrome in identical twins.

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BRIEF COMMUNICATIONS
Developmental
Foix-Chavany -Marie
Svndrome in
identical Twins
Neil1 R. Graff-Radford, MB, BCh, MRCP (UK),"
E. Peter Bosch, MD,+John C. Stears, MD,t
and Daniel Tranel, PhD+
Foix, Chavany, and Marie described a syndrome of
faciopharyngoglossomasticatorydiplegia resulting from
bilateral anterior opercular infarction. We describe
identical twins who have a developmental form of the
syndrome. The twins, aged 41 years, were t h e product of
a normal pregnancy and birth, but had subsequent delayed motor milestones, seizures, poor language development, mild mental retardation, drooling, absent gag
reflexes, inability to protrude the tongue, brisk jaw
jerks, impaired fine finger movements, symmetrical
brisk reflexes, flexor plantar responses, and mildly
spastic gait. Magnetic resonance imaging showed bilateral perisylvian cortical dysplasia compatible with polymicrogyria and incomplete opercula formation.
Graff-Radford NR, Bosch EP, Stears JC, Tranel D:
Developmental Foix-Chavany-Marie syndrome in
identical twins. Ann Neurol 20:632-635, 1986
The Foix-Chavany-Marie or bilateral anterior opercular syndrome is an uncommon faciopharyngoglossomasticatory diplegia usually caused by bilateral anterior opercula infarction [9}. Although Magnus first
described a patient in 1837 [l6}, Foix, Chavany, and
Marie described 2 patients in 1926 [9] and the syndrome was named for them. Mariani and co-workers
1171 summarized 19 previously reported cases and
added 5 of their own. In all patients the syndrome was
caused by staged strokes, with the patients becoming
symptomatic after the second or third infarct.
In this report, we describe a set of identical twins
who have cortical dysplasia in the region of the sylvian
fissure and failure of the opercula to form completely.
The clinical, neuropsychological, and neuroradiological
findings are compatible with a developmental FoixChavany-Marie syndrome.
From the *Departmentof Neurology, University of Iowa College of
Medicine, Iowa City, IA, and the tDepartment of Radiology, University of Colorado School of Medicine, Denver, CO.
Received Dec 10, 1985, and in revised form Mar 4, 1986. Accepted
for publication, Mar 4 , 1986.
Address reprint requests to Dr Graff-Radford,Depattment of Neurology, University of Iowa Hospitals 8r Clinics, Iowa City, IA
52242.
632
Case Reports
Patierit 1
This 41-year-old right-handed man was the product of an
uncomplicated 81/r month twin pregnancy. Labor lasted 3
hours and the patient was born second in the breech position
with a birth weight of 1,702 gm. Although the Apgar score
was not recorded, he had a normal postnatal resuscitation.
H e had difficulty sucking and swallowing from birth, and
his mother had to depress his tongue to enable him to eat.
His motor development was delayed. He sat at 1 year,
walked at 18 months, and attempted to talk at 2 % years.
Speech therapy was unsuccessful, and a prolonged attempt to
teach him sign language also failed. At age 13 he began to
have grand mal seizures. By age 18 he could dress and feed
himself, drive a tractor, and help with farm chores. He has a
pleasant disposition and has excelled in a sheltered employment: environment.
The mother has type 2 diabetes, which developed subsequent to the twins' birth. The twins' parents, brother, and
sister are neurologically normal.
Findings from general examination were normal. His head
circumference was 52 cm. O n cranial nerve examination olfactory sense, eye movements, corneal reflexes, bite, and
hearing were all normal. There were slightly weak voluntary
but riormal emotional facial movements. The palate did not
elevate on phonation or with the gag reflex. Sensation of the
posterior pharynx was preserved, as was reflex swallowing.
He could not protrude or wiggle his tongue, which showed
no fasciculations. Saliva pooled in his mouth and he often
drooled. His vocalizations were sparse, guttural, and difficult
to understand. The palate, tongue, and lips played little role
in articulation. His thumbs were abnormal with a flexion
contracture at the metacarpophalangeal joint; this resulted in
a Z shape to the thumbs. H e had impaired fine finger and
rapid alternating movements of the hands. The jaw jerk was
brisk, as were muscle stretch reflexes bilaterally. Plantar respons,es were flexor. Sensory examination was intact to all
modalities. Gait was mildly spastic.
Patie,rzt 2
Patient 2's history and physical examination were similar to
those of his brother, except that he was in vertex presentation at birth and weighed 2,156 gm. He, too, has seizures, Zshaped thumbs, poor language development, drooling, an
absent gag reflex, inability to protrude the tongue, a brisk
jaw jerk, impaired fine finger movements, bilateral symmetrically brisk reflexes, flexor plantar responses, and a mildly
spastic gait.
Neuropsycbological Evaluation
Both patients were administered a full battery of neuropsychological tests, except for certain areas in which their
very limited verbal communication precluded formal assessment. The results of these tests were virtually identical for
both twins.
Speech and language, assessed with the Multilingual
Aphasia Examination [33, showed severely nonfluent speech,
restricted to grunts and occasionally recognizable phonemes,
but normal visual and tactile naming, tested using a multiplechoice recognition format. Recognition of nonverbal sounds
(e.g., telephone ringing) was normal in Patient 2 and slightly
Fig I . The axial magnetic resonance imaging scan of Patient 1.
Note the poorly developed operculz and the polymicrogyria in the
perisylvian regions. There are no islands of heterotopic gray
matter.
below normal in Patient 1. Aural comprehension was intact
for words and short phrases but impaired for complex
sentence-length material. They both had severe alexia and
agraphia.
Intellectual functioning (assessed with the performance
subtests of the Wechsler Adult Intelligence Scale-Revised)
{ 191was in the mildly mentally retarded range (performance
IQ: Patient 1, 65; Patient 2, 68). These scores were unchanged from those obtained during an evaluation 23 years
ago. Visual memory (assessed with the Benton Visual Retention Test [23) and visual perception (i.e., Facial Recognition
Test [4})were impaired in both twins.
Blood Grouping and Tissue Typing
Blood grouping and tissue typing showed identical ABO,
Rh, MNSs, Kell, Duffy, and Kidd groups. The HLA antigens A, B, DR, and BW4, and BW6 antigens were also
identical. These results indicate that the patients are, in all
likelihood, identical twins [18).
Neuroradiological Studies
Magnetic resonance imaging (MRI) showed symmetrical
maldevelopment in the region of the sylvian fissure. The
frontal and parietal opercula were incompletely developed
bilaterally (Figs 1, 2). The appearance of the dysplastic cortex, showing small and irregularly formed gyri, is compatible
with the gross pathological description of polymicrogyria
{lo]. Using a previously described method I63 we plotted
the MRI slices on brain templates to map the extent of the
maldevelopment. The areas involved were the opercula and
Brodmann’s Areas 44, 6, 4 , 22, 39, and 40. There were no
obvious areas of heterotopic gray matter, porencephalic lesions, or cortical clefts extending to the ependymal surface.
The corpus callosum was well formed.
Fig 2. The midsagittal and coronal magnetic resonance imaging
scan of Patient 2. Note the failure of the operculi to form completely; also the abnormally formed gyri are well seen. There are
no islands of heterotopic gray matter and the corpus callosum is
well formed.
Discussion
Our patients have many of the features of the FoixChavany-Marie syndrome, such as facial weakness
with drooling, poor palatal and tongue movements,
difficulty articulating, and brisk jaw jerks [9, 16, 17).
Chewing and voluntary facial movements, which normally show good recovery in this syndrome, were relatively preserved in the twins. They did not show auditory agnosia. The cortical dysplasia in Brodmann’s
Areas 4, 6, 22, 39, and 40 correlates well with the
impaired fine finger movements and the neuropsy-
Brief Communication: Graff-Radford et al: Foix-Chavany-Marie Syndrome 633
chological deficits of language and visuospatial functioning.
The gross appearance of the cortical dysplasia, as
seen on MRI, is compatible with polymicrogyria.
However, histological confirmation would be needed
to demonstrate the abnormal cytoarchitecture of four
cortical layers that characterize polymicrogyric cortex
[lo). If this is indeed polymicrogyria, which is attributed to a disturbance of neuronal migration, then the
abnormality is likely to have occurred between the
third and fifth months of gestation. The timing of the
developmental abnormalities is based on Hallervorden’s report of a 1-year-old infant born after the
mother’s attempted suicide with carbon monoxide during her fifth month of pregnancy [ 111. At the child‘s
postmortem examination, there was frontal polymicrogyria in association with ventricular enlargement
and necrosis of the basal ganglia. Although we do not
know the cause of the maldevelopment, a possible clue
stems from our knowledge that the mother developed
type 2 diabetes following the twins’ birth. Diabetes
may first manifest during pregnancy, and poorly controlled diabetes in pregnancy may cause developmental neurological abnormalities @]. Polymicrogyria
has been reported in association with schizencephaly
[ZO) when it was thought to be developmental and in
association with porencephaly [7} when it was thought
to be secondary to infarction.
Our report also buttresses the apparent improvement in the detection of central nervous system developmental abnormalities provided by MRI C12). In
computed tomography, specific radiological abnormalities in nonspecific mental retardation are uncommon. Lingham and associates {14) found that in a
series of 76 retarded children examined by CT, only
8% had specific abnormalities, 72% had normal scans,
and 20% had atrophy. In such a group, MRI may be
more informative, e.g., by revealing cortical dysplasia
such as that seen in our patients.
In the twins the opercula failed to form completely.
Barth and co-workers [ 1) found a similar but unilateral
failure of operculation detected by pneumoencephalography in a patient with Soto’s syndrome (cerebral
gigantism). Also, Markakis and co-workers El51 reported unilateral agenesis of the perisylvian region in
13 patients diagnosed at operation for the associated
arachnoid cyst. They thought that this syndrome resulted from a disturbance of cerebral embryogenesis
that became evident during the last 3 months of fetal
life.
It is interesting to contrast our patients with a patient with “congenital aphasia” described by Landau
and associates { 133. Postmortem examination revealed
bilateral old infarcts in the posterior sylvian regions
accompanied by retrograde degeneration of the medial
geniculate nuclei. This patient could be taught effec-
tive spontaneous speech and had no bulbar muscle
impairment, but failed to comprehend aural speech
when spoken at a normal rate. Our patients’ aural comprehension was much better but their speech production wzj worse than in this other patient. This different
clinical presentation can probably be explained by the
more posteriorly situated lesions in Landau’s patient.
We believe this is both the first developmental FoixChavany-Marie syndrome described and the first in
identical twins. Holoprosencephaly has been identified
in identical twins [ 5 } . The cause of the cortical dysplasia, probably polymicrogyria in our patients, is unknown, but because it occurred bilaterally and symmetrically in twins, the morphogenesis is likely to be
maldevelopment resulting from an unknown insult
near the fifth month of gestation.
References
1. Barth PE, Vlasveld L, Valk J: Unilateral delayed operculation in
a case o’f Soto’s syndrome (cerebral gigantism). Neuroradiology
20:49-S2, 1980
2. Benton AL Revised Visual Retention Test, ed 4. New York,
Psychological Corporation, 1964
3. Benton AL, Harnsher K Multilingual Aphasia Examination.
Iowa City, Depanment of Neurology, University of lowa Hospitals, 1978
4. Benton AL, Van Allen MW. Impairment in facial recognition in
patients with cerebral disease. Cortex 4:344-358, 1968
5. Burck U, Hayck HW, Zeidler U: Holoprosencephaly in monozygotic rnins. Clinical and computerized tomographic findings.
Am J Med Genet ’313-17, 1981
6. Damasio H: A computed tomographic guide to the identification of cerebral vascular territories. Arch Neurol 40:138142, 198’5
7. Debakan AS: Large defects in cerebral hemispheres associated
with cortical dysgenesis. J Neuropathol Exp Neurol 24:512530, 1965
8. Debakan AS, Magee KR Occurrence of neurologic abnormalities in infants of diabetic mothers. Neurology 8: 193-200,
1958
9. Foix C, Chavany JA, Marie J: Diplegie facio-linguo-masticatrice
d’origine cortico-sous-cortical sans paralysie des membres. Rev
Neurol 33:214-219, 1926
10. Friede LR:Dysplasias of cerebral cortex. In Developmenral
Neuropathology. New York, Springer-Verlag, 1975, pp 297313
11. Hallervorden J: Uber eine Kohlenoxydvergiftung im Fetalleben
mit Entwicklungssrorung der Hirnrinde. Allg 2 Psychiatr
124:289-298, 1944
12. Han JS, Benson JE, Kaufman B, et al: MR imaging of pediatric
cerebral abnormalities. J Comput Assist Tomogr 9( 1 ) : 103- 114,
1985
13. Landau WM, Goldstein R, Kleffner FR: Congenital aphasia. A
clinicopachobgical study. Neurology 10:915-921, 1960
14. Lingham S, Read S, Holland IM, et al: Value of computerized
tomography in children with nonspecific subnormality. Arch
Dis Child 57:381-383, 1982
15. Markakis E, Theophils F, Hyere E, Stoeppler L: Neurological
signs and operative indications by agenesis of the perisylvian
region. Arq IVeuropsiquiatr (Sao Paulo) 39:376-383, 1981
16. Magnus A: Fall van Aufhebung des Willenseinflusses auf einige
Hirnnerven. Mullers Arch Anat Physiol Wissensch Med, pp
258-266, 1837
634 Annals of Neurology Vol 20 No 5 November 1986
17. Mariani C, Spinnler H, Sterzi R, et al: Bilateral perisylvian softening: bilateral anterior opercular syndrome (Foix-ChavanyMarie syndrome).J Neurol 223:269-284, 1980
18. Race RR, Sanger R: Blood Groups in Man, ed 6. Oxford, Blackwell, 1975
19. Wechsler DA: Wechsler Adult Intelligence Scale (Revised).
New York, Psychological Corporation, 1981
20. Yakovlev PI, Wadsworth RC: Schizencephalies. A study of the
congenital cleft in the cerebral mantle. I. Clefts with fused lips.
J Neuropathol Exp Neurol 5:116-130, 1941
Spontaneous Vertical Eye
Movements in Coma
Michael L. Rosenberg, M D
Patients i n coma may exhibit several different types of
spontaneous ocular movements. Three forms of spontaneous vertical movements have been distinguished
based on the relative velocities of their downward and
upward phases. The pathophysiological basis of all these
movements has remained obscure. Two patients are reported who demonstrated all three types of spontaneous
vertical movements (ocular bobbing, ocular dipping,
and reverse ocular bobbing), implying that the movements may all be differing manifestations of the still
unknown pathophysiological process.
Rosenberg ML: Spontaneous vertical
eye movements in coma.
Ann Neurol 20:635-637, 1986
Comatose patients often exhibit various types of spontaneous e y e movements. Horizontal e y e movements
are most frequently seen; spontaneous vertical movements are m u c h less common. T y p e s of such vertical
movements include ocular bobbing C4, 91, ocular dipping (also called inverse ocular bobbing) IS, 71, and
reverse ocular bobbing [2). The pathogenesis in each
of these problems has remained obscure.
Two patients are described who demonstrated all
From the Neuro-ophthalmologyService, Department of Neurology,
Uniformed Services University of the Health Sciences, Bethesda,
MD 20814-4799.
Received Sept 9, 1985, and in revised form Dec 16, 1985, and Mar
25, 1986. Accepted for publication Mar 26, 1986.
Address reprint requests to Dr. Rosenberg.
The opinions or assertions contained herein are the private ones of
the author and are not to be construed as official or reflecting the
views of the Department of Defense or the Uniformed Services
University of the Health Sciences.
three types of spontaneous vertical e y e movements,
implying that the movements may all be differing manifestations of t h e same unknown disorder.
Case Reports
Patient I
A 75-year-old woman was admitted in 1984 with acute onset
of blurred vision and vertigo. In 1969 she was seen because
of episodic horizontal diplopia associated with dizziness. She
was treated with aspirin for presumed vertebral basilar
insufficiency, and the symptoms resolved. Two days before
admission, total loss of vision and a sensation that the world
was tumbling all around her developed acutely.
Examination on admission revealed normal findings except
for a right homonymous inferior quadrantanopsia. A computed tomographic scan showed bilateral lacunes in the basal
ganglia but no other abnormalities.
One week later she had a respiratory arresr and thereafter
was noted to be unresponsive to verbal or painful stimuli.
H e r pupils were both 5 mm and normally reactive. There
was no response to either oculocephalic or caloric testing.
She had bilateral Babinski signs.
When seen the next day, she manifested spontaneous horizontal roving eye movements with intermittent downbeating
nystagmus that was often intermixed with periods of prolonged downward deviations. A repeat computed tomographic scan showed a nonhemorrhagic infarct in the certbellar hemisphere.
The patient remained deeply comatose. The next day she
had lost all spontaneous horizontal eye movements, but did
have intermittent spontaneous vertical eye movements of
varying types. At times there was a rapid downward movement followed by a slower return to primary position (ocular
bobbing). There were also movements that had a slow initial
downward phase and a more rapid return to primary position
(inverse ocular bobbing or ocular dipping). At still other
times the rapid return of an inverse bob would carry the eye
past the primary position into full upward gaze, followed by a
slower return to primary position (reverse bobbing). Although random, these movements seemed to come more
frequently after rapid movement of the head.
Two days later the patient died; no postmortem examination was allowed.
Patient 2
A 32-year-old man was well until two days before admission,
when he noted onset of a headache. Over the next two days
the pain worsened, and fever and generalized convulsions
developed. After admission to the hospital, his mental status
deteriorated rapidly to a deeply comatose state. He was responsive only to deep pain. A lumbar puncture showed 34
cells/cm3 that were 94% lymphocytes. A computed tomographic scan was normal. Electroencephalography showed
marked diffuse slowing to 3 Hz bilaterally. A presumptive
diagnosis of herpes encephalitis was made and he was begun
on vidarabine; however, herpes titers were later found to be
negative. He was first seen for neuroophthalmological evaluation several days later. At that time his general neurological
status was unchanged. The pupils were normal in size and
635
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