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Developmental Foix-C havan y -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 faciopharyngoglossomasticatory diplegia resulting from bilateral anterior opercular infarction. We describe identical twins who have a developmental form of the syndrome. The twins, aged 41 years, were the product of a normal pregnancy and birth, but had subsequent de- layed motor milestones, seizures, poor language devel- opment, 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 bilat- eral perisylvian cortical dysplasia compatible with poly- microgyria 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 opercu- lar syndrome is an uncommon faciopharyngoglos- somasticatory diplegia usually caused by bilateral ante- rior opercula infarction [9}. Although Magnus first described a patient in 1837 [l6}, Foix, Chavany, and Marie described 2 patients in 1926 [9] and the syn- drome 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 Foix- Chavany-Marie syndrome.

From the *Department of Neurology, University of Iowa College of Medicine, Iowa City, IA, and the tDepartment of Radiology, Uni- versity 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 Neu- rology, University of Iowa Hospitals 8r Clinics, Iowa City, IA 52242.

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 employ- ment: environment.

The mother has type 2 diabetes, which developed subse- quent 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 ol- factory 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 re- spons,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 presenta- tion at birth and weighed 2,156 gm. He, too, has seizures, Z- shaped thumbs, poor language development, drooling, an absent gag reflex, inability to protrude the tongue, a brisk jaw jerk, impaired fine finger movements, bilateral symmet- rically brisk reflexes, flexor plantar responses, and a mildly spastic gait.

Neuropsycbological Evaluation Both patients were administered a full battery of neuro- psychological tests, except for certain areas in which their very limited verbal communication precluded formal assess- ment. 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 multiple- choice recognition format. Recognition of nonverbal sounds (e.g., telephone ringing) was normal in Patient 2 and slightly

63 2

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) { 191 was in the mildly mentally retarded range (performance IQ: Patient 1, 65; Patient 2, 68). These scores were un- changed from those obtained during an evaluation 23 years ago. Visual memory (assessed with the Benton Visual Reten- tion 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 anti- gens 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 cor- tex, 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 le- sions, 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 com- pletely; 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 Foix- Chavany-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 nor- mally show good recovery in this syndrome, were rela- tively preserved in the twins. They did not show audit- ory 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 func- tioning.

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 attrib- uted 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 Hallervor- den’s report of a 1-year-old infant born after the mother’s attempted suicide with carbon monoxide dur- ing her fifth month of pregnancy [ 111. At the child‘s postmortem examination, there was frontal polymi- crogyria 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 con- trolled diabetes in pregnancy may cause develop- mental 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 improve- ment in the detection of central nervous system devel- opmental abnormalities provided by MRI C12). In computed tomography, specific radiological abnor- malities in nonspecific mental retardation are uncom- mon. 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 pneumoenceph- alography in a patient with Soto’s syndrome (cerebral gigantism). Also, Markakis and co-workers El51 re- ported unilateral agenesis of the perisylvian region in 13 patients diagnosed at operation for the associated arachnoid cyst. They thought that this syndrome re- sulted 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 pa- tient 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 com- prehension was much better but their speech produc- tion 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 Foix- Chavany-Marie syndrome described and the first in identical twins. Holoprosencephaly has been identified in identical twins [ 5 } . The cause of the cortical dys- plasia, probably polymicrogyria in our patients, is un- known, but because it occurred bilaterally and sym- metrically 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

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 Hos- pitals, 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 mono- zygotic rnins. Clinical and computerized tomographic findings. Am J Med Genet ’313-17, 1981

6. Damasio H: A computed tomographic guide to the identi- fication of cerebral vascular territories. Arch Neurol 40:138- 142, 198’5

7. Debakan AS: Large defects in cerebral hemispheres associated with cortical dysgenesis. J Neuropathol Exp Neurol 24:512- 530, 1965

8. Debakan AS, Magee KR Occurrence of neurologic abnor- malities 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 297- 313

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

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Mariani C, Spinnler H, Sterzi R, et al: Bilateral perisylvian soft- ening: bilateral anterior opercular syndrome (Foix-Chavany- Marie syndrome). J Neurol 223:269-284, 1980 Race RR, Sanger R: Blood Groups in Man, ed 6. Oxford, Black- well, 1975 Wechsler DA: Wechsler Adult Intelligence Scale (Revised). New York, Psychological Corporation, 198 1 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 spon- taneous 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 re- ported who demonstrated all three types of spontaneous vertical movements (ocular bobbing, ocular dipping, and reverse ocular bobbing), implying that the move- ments 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 of ten exhibit various types of spon- taneous e y e movements. Horizontal eye movements are most frequently seen; spontaneous vertical move- ments are much less common. Types of such vertical movements include ocular bobbing C4, 91, ocular dip- ping (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-ophthalmology Service, 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 man- ifestations 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 com- puted 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. Her 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 hori- zontal roving eye movements with intermittent downbeating nystagmus that was often intermixed with periods of pro- longed downward deviations. A repeat computed tomo- graphic scan showed a nonhemorrhagic infarct in the cert- bellar 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 move- ment 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). Al- though random, these movements seemed to come more frequently after rapid movement of the head.

Two days later the patient died; no postmortem examina- tion 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 re- sponsive only to deep pain. A lumbar puncture showed 34 cells/cm3 that were 94% lymphocytes. A computed tomo- graphic 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 evalu- ation several days later. At that time his general neurological status was unchanged. The pupils were normal in size and

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