Infantile Hemifacial J. William Langston, MD,
Barry
R.
Tharp,
\s=b\ A 6-week-old infant had recurrent contractions of the facial musculature on the left side, which continued throughout early childhood. Surgical exploration at 51/2 years of age revealed a ganglioneuroma of the fourth ventricle. Hemifacial spasm (HFS) in infancy and childhood suggests the possibility of serious intracranial pathologic findings. (Arch Neurol 33:302-303, 1976)
Hemifacialexclusively(HFS)adults,1-3 spasm
occurs
almost in but at least one case is described in childhood.' This report documents HFS beginning in infancy in a child who was later found to have a ganglioneuroma of the fourth ventri¬ cle. REPORT OF A CASE An 8-year-old boy began having inter¬ mittent contractions of the left obicularis oculi six weeks after an uncomplicated birth, each lasting from 3 to 15 seconds. The contractions were aggravated by coughing, continued during sleep, and occurred from 3 to 50 times daily. Results of neurologic examination when the child was 8 months old were normal except for the intermittent left-sided facial twitch¬ ing. An electroencephalogram and skull roentgenogram were unremarkable. By 20 months of age, the spasms had spread to involve both the upper and lower facial musculature on the left. The contractions varied from tonic to clonic in nature, with episodes often lasting five minutes. They
were never accompanied by verbalization, tongue-biting, incontinence, or alteration in state of consciousness. Fatigue and emotional stress often precipitated the contractions. Several consulting physicians described the movements as typical of HFS. Various anticonvulsants, including phenytoin (diphenylhydantoin), were ad¬
ministered without benefit.
Psychological testing at 2V2 years Accepted
of age
publication Oct 30, 1975. Department of Neurology, Stanford (Calif) University School of Medicine. Reprint requests to Division of Neurology, Santa Clara Valley Medical Center, 751 S Bascom Ave, San Jose, CA 95128 (Dr Langston). From the
for
Spasm
MD
revealed an above-average intelligence and normal social development. When the patient was 4 years old, the left obicularis oculi was selectively denervated, but the spasms decreased only transiently. Infre¬ quent rapid turning movements of the head to the right, with occasional flexion and extension of the left elbow, accompa¬ nied the spasms for the first time six months later. The patient was admitted to Stanford University Hospital at 5Vfe years of age. The intermittent left-sided facial contrac¬ tions were as previously described, al¬ though they occurred somewhat more frequently. Narrowing of the palpebrai fissure on the left and a mild left-sided interfacial synkinesis were also noted. The results of the rest of the neurologic exami¬ nation were normal, except for a tendency to hold the right wrist and fingers flexed when walking and slightly impaired rapid alternating movements of the right hand. An EEG was described as minimally abnormal because of an excessive amount of theta activity and the absence of a wellformed alpha rhythm. Skull x-ray films were normal. Pneumoencephalography re¬ vealed a mass bulging into the left superiolateral aspect of the fourth ventricle, displacing it slightly to the right; the tumor appeared to arise from the left lateral ventricular wall (Figure). An arteriogram confirmed the presence of an avascular intraventricular mass. At operation a round, white tumor almost filling the midfourth ventricle was found arising from the left lateral wall. It was firm and appeared to be encapsulated, but was strongly adherent to the wall of the ventri¬ cle. A partial resection was performed. Microscopically, the tumor was composed of mature astrocytes and foci of abnormal ganglion cells of various sizes. Their nuclei were eccentrically placed; binucleate forms were seen occasionally. Nissl stains and Bielschowsky impregnation confirmed the presence of ganglionic elements. The final tissue diagnosis was ganglioglioma. The spasms ceased after operation, but during the next three years they gradually reoccurred, though they were lessened in severity. The child also developed leftsided parietal headaches and episodes of vertigo, which were relieved by assuming a supine position. Examination when the patient was 8 years old revealed a mild
Downloaded From: http://archneur.jamanetwork.com/ by a New York University User on 06/11/2015
peripheral facial weakness on the left, leftsided gaze-dependent nystagmus (which was present primarily with the head dependent and turned to the right), and slight clumsiness of the left hand. The previously present abnormal movements and posturing of the left and right arms, respectively, were no longer seen. A brain scan was negative; an EEG was unchanged from the previous recording. Carbamaze¬ pine (total dose of 600 mg daily) resulted in a marked increase in the severity and frequency of the episodes of facial spasm. The patient is now 9k years old, and suffers approximately six brief episodes of HFS daily. Despite this, his school performance is excellent and he appears well adjusted socially. COMMENT
Our patient's HFS is the first reported in infancy and only the second reported in a child.4 These repetitive facial contractions exem¬ plify the syndrome of HFS as described by Ehni and Woltman1 and Wartenberg.- Early involvement of the obicularis oculi, with later spread to include the lower facial muscula¬
ture, is a particularly striking feature.
The spasms are characteristically ex¬ acerbated by cough, fatigue, and stress, and they continue during sleep. They are tonic or clonic in nature and can easily be distinguished from the continuous undulating movements of facial myokymia. On the other hand, the HFS observed in our patient proved to be more serious than the so-called "cryptogenic" HFS of adulthood.2 However, there were no clues as to the intra¬ cranial origin of these irregular facial contractions during the first 4Vè years of life. Noninvasive neurodiagnostic procedures were not helpful. Contrast procedures were undertaken because of the atypical occurrence of HFS beginning in infancy, and the sugges¬ tion of additional neurologic deficits at 5 years of age. While a number of authors'" have emphasized compres¬ sion of the seventh nerve by vascular
A
mass
bulging
into the fourth ventricle appears to arise from left ventricular wall.
(such as arteriosclerotic elongation of a vertebral artery or a fusiform basilar artery aneurysm) as structures
a
common
cause
of HFS in older
patients, these must be considered unlikely in infants or children. Shaywitz4 has described an 8-yearold boy with HFS. Noninvasive neurodiagnostic studies were normal, but contrast procedures were not carried out, and follow-up was limited. Car¬ bamazepine abolished the HFS, while in our patient the medication ap¬ peared to aggravate the intermittent
facial spasms. Most identifiable lesions causing HFS can be localized to the cerebellopontine angle or the intracanalicular portion of the seventh nerve,3 exert¬ ing pressure on the extramedullary portion of the nerve. We were unable to find previous reports of a primarily intraventricular tumor causing HFS and ganglioneuromas have not been reported as a cause. These rare tumors are nearly always benign, and are considered by some authors to be
hamartomas.7 Although ganglioneuro¬ mas are usually found close to or protruding into the ventricular sys¬ tem, they are more commonly located around the lateral and third ventri¬ cles. Our patient's tumor was encapsu¬ lated, and although adherent to the
lateral ventricular wall, it was located primarily within the ventricle. We suspect that the tumor was actually congenital, since symptoms appeared within six weeks of birth and the tumor was composed of ganglionic and mature astrocytic elements. The location of the tumor has impli¬ cations regarding the pathophysiology of HFS. Gardner and Sava,5 and in a separate work, Gardner,8 have proposed "cross-talk" between the sensory and motor portions of the seventh nerve as a mechanism to explain the occurrence of HFS. Ac¬ cording to this theory, incoming impulses in the sensory component of the nerve cross over at the point of compression (where there is presum¬ ably a decrease in myelin thickness resulting in a transaxonal "shortcircuit"), directly stimulating the mo¬ tor portion of the nerve. If contracting facial musculature results in addi¬ tional sensory input, a reverberating circuit might result. In our patient, the HFS apparently resulted from compression of the genu of the facial nerve, located directly below the tumor in the floor of the fourth ventri¬ cle. At this point the facial nerve contains only motor fibers; the senso¬ ry portion joins the nerve shortly before it emerges from the substance
Downloaded From: http://archneur.jamanetwork.com/ by a New York University User on 06/11/2015
of the pons.9 Compression of the seventh nerve more distally seems unlikely, since those structures imme¬ diately surrounding the genu (the brachium conjunctivum, vestibular nuclear groups, nucleus of the spinal tract of the fifth cranial nerve, and the sixth nerve nucleus) were clini¬ cally spared until very late in the illness. Although these features cer¬ tainly do not refute Gardner's hypoth¬ esis, they do seem to indicate HFS can be generated from compression of the motor fibers alone. This is of some practical importance, since section of the nervus intermedius has been suggested as a treatment for HFS. This procedure would probably be ineffective when the HFS results from compression of the internal genu of the facial nerve alone. In conclusion, HFS is a syndrome associated with an increasing number of etiologic factors. Hemifacial spasm can probably be caused by a lesion almost anywhere along the course of the seventh nerve, including the genu within the pons. When occurring in infancy or childhood, treatable intra¬ cranial causes having consequences far beyond the genesis of HFS should be excluded.
Nonproprietary Name and Trademark of Drug Carbamazepine- Tegretol. References 1. Ehni G, Woltman HW: Hemifacial spasm: Review of one hundred and six cases. Arch Neurol Psychiatry 53:205-211, 1945. 2. Wartenberg R: Hemifacial Spasm: A Clinical and Patho-physiological Study. New York. Oxford University Press, 1952. 3. Pulec JL: Idiopathic hemifacial spasm: Pathogenesis and surgical treatment. Ann Otol Rhinol Laryngol 81:664-676, 1972. 4. Shaywitz BA: Hemifacial spasm in childhood treated with carbamazepine. Arch Neurol 31:63, 1974. 5. Gardner WJ, Sava GA: Hemifacial spasm: A reversible pathophysiologic state. J Neurosurg 19:240-247, 1962. 6. Eckman PB, Kramer RA, Altrocchi PH: Hemifacial spasm. Arch Neurol 25:81-87, 1971. 7. Rubinstein LJ: Tumors of the Central Nervous System, fascicle 6. Armed Forces Institute of Pathology, 1972. 8. Gardner WJ: Cross talk\p=m-\Theparadoxical transmission of a nerve impulse. Arch Neurol 14:149-156, 1966. 9. Truex RC, Carpenter MB: Human Neuroanatomy, ed 6. Baltimore, Williams & Wilkins Co, 1969.
Barry
R.
Tharp,
\s=b\ A 6-week-old infant had recurrent contractions of the facial musculature on the left side, which continued throughout early childhood. Surgical exploration at 51/2 years of age revealed a ganglioneuroma of the fourth ventricle. Hemifacial spasm (HFS) in infancy and childhood suggests the possibility of serious intracranial pathologic findings. (Arch Neurol 33:302-303, 1976)
Hemifacialexclusively(HFS)adults,1-3 spasm
occurs
almost in but at least one case is described in childhood.' This report documents HFS beginning in infancy in a child who was later found to have a ganglioneuroma of the fourth ventri¬ cle. REPORT OF A CASE An 8-year-old boy began having inter¬ mittent contractions of the left obicularis oculi six weeks after an uncomplicated birth, each lasting from 3 to 15 seconds. The contractions were aggravated by coughing, continued during sleep, and occurred from 3 to 50 times daily. Results of neurologic examination when the child was 8 months old were normal except for the intermittent left-sided facial twitch¬ ing. An electroencephalogram and skull roentgenogram were unremarkable. By 20 months of age, the spasms had spread to involve both the upper and lower facial musculature on the left. The contractions varied from tonic to clonic in nature, with episodes often lasting five minutes. They
were never accompanied by verbalization, tongue-biting, incontinence, or alteration in state of consciousness. Fatigue and emotional stress often precipitated the contractions. Several consulting physicians described the movements as typical of HFS. Various anticonvulsants, including phenytoin (diphenylhydantoin), were ad¬
ministered without benefit.
Psychological testing at 2V2 years Accepted
of age
publication Oct 30, 1975. Department of Neurology, Stanford (Calif) University School of Medicine. Reprint requests to Division of Neurology, Santa Clara Valley Medical Center, 751 S Bascom Ave, San Jose, CA 95128 (Dr Langston). From the
for
Spasm
MD
revealed an above-average intelligence and normal social development. When the patient was 4 years old, the left obicularis oculi was selectively denervated, but the spasms decreased only transiently. Infre¬ quent rapid turning movements of the head to the right, with occasional flexion and extension of the left elbow, accompa¬ nied the spasms for the first time six months later. The patient was admitted to Stanford University Hospital at 5Vfe years of age. The intermittent left-sided facial contrac¬ tions were as previously described, al¬ though they occurred somewhat more frequently. Narrowing of the palpebrai fissure on the left and a mild left-sided interfacial synkinesis were also noted. The results of the rest of the neurologic exami¬ nation were normal, except for a tendency to hold the right wrist and fingers flexed when walking and slightly impaired rapid alternating movements of the right hand. An EEG was described as minimally abnormal because of an excessive amount of theta activity and the absence of a wellformed alpha rhythm. Skull x-ray films were normal. Pneumoencephalography re¬ vealed a mass bulging into the left superiolateral aspect of the fourth ventricle, displacing it slightly to the right; the tumor appeared to arise from the left lateral ventricular wall (Figure). An arteriogram confirmed the presence of an avascular intraventricular mass. At operation a round, white tumor almost filling the midfourth ventricle was found arising from the left lateral wall. It was firm and appeared to be encapsulated, but was strongly adherent to the wall of the ventri¬ cle. A partial resection was performed. Microscopically, the tumor was composed of mature astrocytes and foci of abnormal ganglion cells of various sizes. Their nuclei were eccentrically placed; binucleate forms were seen occasionally. Nissl stains and Bielschowsky impregnation confirmed the presence of ganglionic elements. The final tissue diagnosis was ganglioglioma. The spasms ceased after operation, but during the next three years they gradually reoccurred, though they were lessened in severity. The child also developed leftsided parietal headaches and episodes of vertigo, which were relieved by assuming a supine position. Examination when the patient was 8 years old revealed a mild
Downloaded From: http://archneur.jamanetwork.com/ by a New York University User on 06/11/2015
peripheral facial weakness on the left, leftsided gaze-dependent nystagmus (which was present primarily with the head dependent and turned to the right), and slight clumsiness of the left hand. The previously present abnormal movements and posturing of the left and right arms, respectively, were no longer seen. A brain scan was negative; an EEG was unchanged from the previous recording. Carbamaze¬ pine (total dose of 600 mg daily) resulted in a marked increase in the severity and frequency of the episodes of facial spasm. The patient is now 9k years old, and suffers approximately six brief episodes of HFS daily. Despite this, his school performance is excellent and he appears well adjusted socially. COMMENT
Our patient's HFS is the first reported in infancy and only the second reported in a child.4 These repetitive facial contractions exem¬ plify the syndrome of HFS as described by Ehni and Woltman1 and Wartenberg.- Early involvement of the obicularis oculi, with later spread to include the lower facial muscula¬
ture, is a particularly striking feature.
The spasms are characteristically ex¬ acerbated by cough, fatigue, and stress, and they continue during sleep. They are tonic or clonic in nature and can easily be distinguished from the continuous undulating movements of facial myokymia. On the other hand, the HFS observed in our patient proved to be more serious than the so-called "cryptogenic" HFS of adulthood.2 However, there were no clues as to the intra¬ cranial origin of these irregular facial contractions during the first 4Vè years of life. Noninvasive neurodiagnostic procedures were not helpful. Contrast procedures were undertaken because of the atypical occurrence of HFS beginning in infancy, and the sugges¬ tion of additional neurologic deficits at 5 years of age. While a number of authors'" have emphasized compres¬ sion of the seventh nerve by vascular
A
mass
bulging
into the fourth ventricle appears to arise from left ventricular wall.
(such as arteriosclerotic elongation of a vertebral artery or a fusiform basilar artery aneurysm) as structures
a
common
cause
of HFS in older
patients, these must be considered unlikely in infants or children. Shaywitz4 has described an 8-yearold boy with HFS. Noninvasive neurodiagnostic studies were normal, but contrast procedures were not carried out, and follow-up was limited. Car¬ bamazepine abolished the HFS, while in our patient the medication ap¬ peared to aggravate the intermittent
facial spasms. Most identifiable lesions causing HFS can be localized to the cerebellopontine angle or the intracanalicular portion of the seventh nerve,3 exert¬ ing pressure on the extramedullary portion of the nerve. We were unable to find previous reports of a primarily intraventricular tumor causing HFS and ganglioneuromas have not been reported as a cause. These rare tumors are nearly always benign, and are considered by some authors to be
hamartomas.7 Although ganglioneuro¬ mas are usually found close to or protruding into the ventricular sys¬ tem, they are more commonly located around the lateral and third ventri¬ cles. Our patient's tumor was encapsu¬ lated, and although adherent to the
lateral ventricular wall, it was located primarily within the ventricle. We suspect that the tumor was actually congenital, since symptoms appeared within six weeks of birth and the tumor was composed of ganglionic and mature astrocytic elements. The location of the tumor has impli¬ cations regarding the pathophysiology of HFS. Gardner and Sava,5 and in a separate work, Gardner,8 have proposed "cross-talk" between the sensory and motor portions of the seventh nerve as a mechanism to explain the occurrence of HFS. Ac¬ cording to this theory, incoming impulses in the sensory component of the nerve cross over at the point of compression (where there is presum¬ ably a decrease in myelin thickness resulting in a transaxonal "shortcircuit"), directly stimulating the mo¬ tor portion of the nerve. If contracting facial musculature results in addi¬ tional sensory input, a reverberating circuit might result. In our patient, the HFS apparently resulted from compression of the genu of the facial nerve, located directly below the tumor in the floor of the fourth ventri¬ cle. At this point the facial nerve contains only motor fibers; the senso¬ ry portion joins the nerve shortly before it emerges from the substance
Downloaded From: http://archneur.jamanetwork.com/ by a New York University User on 06/11/2015
of the pons.9 Compression of the seventh nerve more distally seems unlikely, since those structures imme¬ diately surrounding the genu (the brachium conjunctivum, vestibular nuclear groups, nucleus of the spinal tract of the fifth cranial nerve, and the sixth nerve nucleus) were clini¬ cally spared until very late in the illness. Although these features cer¬ tainly do not refute Gardner's hypoth¬ esis, they do seem to indicate HFS can be generated from compression of the motor fibers alone. This is of some practical importance, since section of the nervus intermedius has been suggested as a treatment for HFS. This procedure would probably be ineffective when the HFS results from compression of the internal genu of the facial nerve alone. In conclusion, HFS is a syndrome associated with an increasing number of etiologic factors. Hemifacial spasm can probably be caused by a lesion almost anywhere along the course of the seventh nerve, including the genu within the pons. When occurring in infancy or childhood, treatable intra¬ cranial causes having consequences far beyond the genesis of HFS should be excluded.
Nonproprietary Name and Trademark of Drug Carbamazepine- Tegretol. References 1. Ehni G, Woltman HW: Hemifacial spasm: Review of one hundred and six cases. Arch Neurol Psychiatry 53:205-211, 1945. 2. Wartenberg R: Hemifacial Spasm: A Clinical and Patho-physiological Study. New York. Oxford University Press, 1952. 3. Pulec JL: Idiopathic hemifacial spasm: Pathogenesis and surgical treatment. Ann Otol Rhinol Laryngol 81:664-676, 1972. 4. Shaywitz BA: Hemifacial spasm in childhood treated with carbamazepine. Arch Neurol 31:63, 1974. 5. Gardner WJ, Sava GA: Hemifacial spasm: A reversible pathophysiologic state. J Neurosurg 19:240-247, 1962. 6. Eckman PB, Kramer RA, Altrocchi PH: Hemifacial spasm. Arch Neurol 25:81-87, 1971. 7. Rubinstein LJ: Tumors of the Central Nervous System, fascicle 6. Armed Forces Institute of Pathology, 1972. 8. Gardner WJ: Cross talk\p=m-\Theparadoxical transmission of a nerve impulse. Arch Neurol 14:149-156, 1966. 9. Truex RC, Carpenter MB: Human Neuroanatomy, ed 6. Baltimore, Williams & Wilkins Co, 1969.
