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Alien Hand Syndrome in Parry-Romberg Syndrome
Case Reports
Alien Hand Syndrome in Parry-Romberg Syndrome Toshiki Takenouchi, MD and Gail E. Solomon, MD A pediatric patient with diagnosis of Parry-Romberg syndrome, or progressive hemifacial atrophy, presented with new-onset unilateral alien hand syndrome, which was attributed to focal progressive atrophy and gliosis in the contralateral thalamus observed on serial neuroimaging. This case illustrates not only the clinicalradiographic correlation between alien hand syndrome and contralateral thalamic lesion, but also involvement of deep gray structure in Parry-Romberg syndrome causing a rare movement disorder. Ó 2010 by Elsevier Inc. All rights reserved. Takenouchi T, Solomon GE. Alien hand syndrome in Parry-Romberg syndrome. Pediatr Neurol 2010;42:280-282.
Introduction Parry-Romberg syndrome is a rare disorder, characterized by progressive facial hemiatrophy of the skin and adipose tissue with a presumed autoimmune etiology. Clinical manifestations of Parry-Romberg syndrome are mainly epilepsy, migraine and ophthalmologic problems including uveitis in addition to the characteristic facial skin lesion [1]. It is also associated with intracranial lesions, typically white matter abnormalities in the cerebral hemisphere ipsilateral to the facial atrophy [2,3]. Alien hand syndrome is another rare neurologic condition, characterized by failure to recognize ownership of one’s limb and with autonomous activity outside voluntary control. It can be caused by various anatomic lesions and
From the Division of Pediatric Neurology, Department of Pediatrics, New York-Presbyterian Hospital, Weill Cornell Medical College, New York, New York.
280 PEDIATRIC NEUROLOGY Vol. 42 No. 4
clinical conditions such as corpus callosum lesions, corpus callosectomy, medial frontal lesions, contralateral frontal strokes, anterior communicating artery rupture, bifrontal penetrating cerebral artery injury, combined posterior corpus callosum and contralateral thalamic lesions, Creutzfeldt-Jakob disease, and Alzheimer’s disease [4]. The exact incidence of these two rare conditions is not known, and in the literature they are represented primarily in sporadic case reports or series. Described here, with discussion of the pathophysiology, is the case of a patient with a diagnosis of Parry-Romberg syndrome who presented with new-onset unilateral alien hand syndrome. Case Report A 9-year-old girl started to have progressive asymmetry and a rightsided concave appearance of her forehead after she fell off the top bunk of a bed at 18 months of age. She subsequently developed right-eye uveitis with a dilated pupil. When she was 5 years old, she was admitted because of 5 weeks of progressive left-sided weakness and gait difficulty. Cranial magnetic resonance imaging on admission indicated minimal signal changes of right cerebral hemisphere and right thalamus on T2-weighted images and fluid-attenuated inversion-recovery (FLAIR) images (Fig 1). Her magnetic resonance angiography findings were normal, with no evidence of vasculitis. A right parietal stereotactic brain biopsy indicated reactive gliosis without evidence of malignancy. After extensive neurologic and rheumatologic evaluation, she was diagnosed with ParryRomberg syndrome, or progressive hemifacial atrophy. She was treated with prednisone, methotrexate, and hydroxychloroquine and experienced a stable clinical course. At age 9, she presented with several months of brief paroxysmal semipurposeful movements of her left arm. She describes two different types of abnormal movements. One is a sudden brief involuntary outreaching of her entire left arm laterally or posteriorly, which lasts for approximately 30 seconds and occurs at least once a week. The other is involuntary grabbing of her hair by her left hand, which lasts for approximately 30 seconds and occurs approximately once a month. She cannot suppress the initiation of those involuntary movements, but can terminate the movements when told to do so. Those two different abnormal movements started around the same time. She denies any specific trigger, sensory changes, or changes in her mental status. Between episodes, the patient returns to her baseline. Her baseline examination indicates prominent right facial atrophy with nasal hypoplasia, normal facial sensation, and right conductive hearing loss. Her ophthalmologic examination indicates evidence of chronic uveitis with anisocoria, the right pupil being larger than the left. She has mild left hemiparesis and cannot manipulate objects with her left fingers. Her sensory modalities are all intact, and her gait is steady. Video electroencephalography indicated intermittent left centrotemporal spikes, contralateral to the lesion. There was no electrographic correlate during an episode of a sudden brief involuntary lateral outreaching of her left arm.
Communications should be addressed to: Dr. Takenouchi; Division of Pediatric Neurology; Department of Pediatrics; New York-Presbyterian Hospital; Weill Cornell Medical College; 525 East 68th Street, Box 91; New York, NY 10021. E-mail: [email protected]. Received September 4, 2009; accepted November 9, 2009.
Ó 2010 by Elsevier Inc. All rights reserved. doi:10.1016/j.pediatrneurol.2009.11.010 0887-8994/10/$—see front matter
Figure 1. Progressive right thalamic lesion is evident on cranial magnetic resonance imaging, fluid attenuated inversion recovery. (A) Axial fluid attenuated inversion recovery magnetic resonance image (1.5 T Signa Excite; GE Healthcare, Milwaukee, WI) of the patient’s brain at age 5, before the onset of alien hand syndrome. Note minimal increased, ill-defined signal change in the right thalamus (arrow). (B) Axial fluid attenuated inversion recovery magnetic resonance image (3 T Signa HDx; GE Healthcare, Milwaukee, WI) of the patient’s brain at age 9, after the onset of alien hand syndrome. Note progressive atrophy and focal gliosis in the right thalamus (arrow). Cranial magnetic resonance imaging after the onset of alien hand syndrome revealed T1 and T2 hyperintensity and significant volume loss of the right thalamus, without contrast enhancement. The finding was interpreted as focal progressive atrophy and gliosis, which had not been apparent on the cranial magnetic resonance imaging done 4 years earlier (Fig 1). She has chronic migraine headaches, but has never had seizures. Given the infrequency of the events and relatively short duration of symptoms, the patient and her family agreed to observe her symptoms without pharmacologic intervention. The patient and her family moved out of the state and were lost to follow-up 3 months after the onset of alien hand syndrome, so the exact duration of the symptom remains unknown.
Discussion The patient’s description of grabbing her own hair without her control is very characteristic of alien hand syndrome. The movement is paroxysmal, brief, involuntary, and stereotypical and involves only her left arm. Classically, two distinct types of alien hand syndrome have been described: frontal and callosal forms. The frontal form typically involves the dominant hand and presents with reflexive grasping, groping, and compulsive manipulation of tools. The callosal form typically involves the nondominant hand and presents with intermanual conflict [4]. A third variant, the posterior form, has been described in a few case reports [5,6]. This form generally involves the nondominant hand, which tends to levitate into the air, displaying ataxic, nonpurposeful, and nonconflictual movements, with relevant sensory impairment and evidence of visual and somatosensory dysfunction [6]. The present patient’s description of the movement is most consistent with frontal alien hand syndrome, but no obvious lesion was identified in the frontal area. Soman et al. [7] reported a pediatric case of alien hand syndrome and dystonia following a right large middle cerebral artery stroke involving thalamus, which also was not typical of the
traditional classification of alien hand syndrome based on the anatomic substrate. There have been reports of alien hand syndrome attributed to isolated contralateral destructive thalamic lesion [6,8]. Because the present patient’s cranial magnetic resonance imaging indicated progressive atrophy of right thalamus and focal gliosis of posterior right thalamus, the new-onset alien hand syndrome was attributed to this contralateral thalamic lesion. Movement disorder in Parry-Romberg syndrome is extremely rare, and a literature search identified only one article, a case report of Parry-Romberg syndrome with paroxysmal kinesigenic dyskinesia [9]. In the present patient, however, the movement was not induced by sudden movement. Her symptomatic etiology with contralateral focal involvement of left arm and lack of family history makes paroxysmal kinesigenic dyskinesia unlikely. Thalamic lesions are known to cause various movement disorders including dystonia [10], and therefore the present patient’s brief dystonic movement of her left arm was attributed to the contralateral thalamic lesion. Intracranial lesions are common in Parry-Romberg syndrome, predominantly as white matter lesions [2,3]. Pathologic specimens in prior case reports indicated evidence of inflammation [11,12]. It is not clear why Parry-Romberg syndrome has a propensity to involve white matter more than gray matter. The present patient had relatively stable but slight atrophy of the right hemisphere, in contrast to the progressive nature of the right thalamic lesion. It is also intriguing that the intracranial lesion in the present patient had a strong propensity to involve deep gray structure rather than white matter or cerebral cortex. There are several case reports of intracranial vascular abnormalities in Parry-Romberg syndrome. Pichiecchio et al.
Takenouchi and Solomon: Alien Hand Syndrome in PRS 281
[13] described a case of Parry-Romberg syndrome with small middle cerebral artery aneurysm. Miedziak et al. [12] reported a case of Parry-Romberg syndrome with hemorrhage and infarct involving deep gray structure and hypoplastic right vertebral artery and a narrowed right intracavernous carotid artery. Woolfenden et al. [14] reported an adult case of Parry-Romberg syndrome presenting with hemiparesis, aphasia, and headache. In that case, the brain biopsy showed inflammatory changes. The magnetic resonance imaging demonstrated white matter changes associated with irregular intracranial vessels on angiography; magnetic resonance angiography did not show evidence of vascular lesions (although magnetic resonance angiography may not detect lesions in small vessels). The natural history of Parry-Romberg syndrome is a progressive disease process [15]. The present patient has developed new symptoms every few years: uveitis at age 4, hemiparesis at 5, then alien hand syndrome at age 9, along with progression of her intracranial findings seen on serial magnetic resonance imaging scans. The patient and her family need to understand the natural course of Parry-Romberg syndrome and remain vigilant about emergence of new symptoms with the progression of the disease.
References [1] Stone J. Parry-Romberg syndrome: a global survey of 205 patients using the Internet. Neurology 2003;61:674-6. [2] Barkovich AJ. The phakomatoses. In: Pediatric neuroimaging. 4th ed. Philadelphia: Lippincott Williams & Wilkins, 2005:498.
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[3] Moko SB, Mistry Y. Blandin de Chalain TM. Parry-Romberg syndrome: intracranial MRI appearances. J Craniomaxillofac Surg 2003; 31:321-4. [4] Brazis PW, Masdeu JC, Biller J. In: Localization in clinical neurology. 5th ed. Philadelphia: Lippincott Williams & Wilkins, 2007:496-7. [5] Levine DN, Rinn WE. Opticosensory ataxia and alien hand syndrome after posterior cerebral artery territory infarction. Neurology 1986;36:1094-7. [6] Marey-Lopez J, Rubio-Nazabal E, Alonso-Magdalena L, LopezFacal S. Posterior alien hand syndrome after a right thalamic infarct. J Neurol Neurosurg Psychiatry 2002;73:447-9. [7] Soman T, Steeves TD, Lang AE. Alien hand syndrome and dystonia in a pediatric patient. Mov Disord 2009;24:1557-9. [8] Ventura MG, Goldman S, Hildebrand J. Alien hand syndrome without a corpus callosum lesion. J Neurol Neurosurg Psychiatry 1995; 58:735-7. [9] Mrabet Khiari H, Masmoudi S, Mrabet A. Association of ParryRomberg syndrome and paroxysmal kinesigenic dyskinesia [In French]. Rev Neurol (Paris) 2008;165:489-92. [10] Lee MS, Marsden CD. Movement disorders following lesions of the thalamus or subthalamic region. Mov Disord 1994;9:493-507. [11] Stone J, Franks AJ, Guthrie JA, Johnson MH. Scleroderma ‘‘en coup de sabre’’: pathological evidence of intracerebral inflammation. J Neurol Neurosurg Psychiatry 2001;70:382-5. [12] Miedziak AI, Stefanyszyn M, Flanagan J, Eagle RC Jr. ParryRomberg syndrome associated with intracranial vascular malformations. Arch Ophthalmol 1998;116:1235-7. [13] Pichiecchio A, Uggetti C. Grazia Egitto M, Zappoli F. ParryRomberg syndrome with migraine and intracranial aneurysm. Neurology 2002;59:606-8;discussion 481. [14] Woolfenden AR, Tong DC, Norbash AM, Albers GW. Progressive facial hemiatrophy: abnormality of intracranial vasculature. Neurology 1998;50:1915-7. [15] Lehman TJ. The Parry Romberg syndrome of progressive facial hemiatrophy and linear scleroderma en coup de sabre. Mistaken diagnosis or overlapping conditions? J Rheumatol 1992;19:844-5.
Alien Hand Syndrome in Parry-Romberg Syndrome Toshiki Takenouchi, MD and Gail E. Solomon, MD A pediatric patient with diagnosis of Parry-Romberg syndrome, or progressive hemifacial atrophy, presented with new-onset unilateral alien hand syndrome, which was attributed to focal progressive atrophy and gliosis in the contralateral thalamus observed on serial neuroimaging. This case illustrates not only the clinicalradiographic correlation between alien hand syndrome and contralateral thalamic lesion, but also involvement of deep gray structure in Parry-Romberg syndrome causing a rare movement disorder. Ó 2010 by Elsevier Inc. All rights reserved. Takenouchi T, Solomon GE. Alien hand syndrome in Parry-Romberg syndrome. Pediatr Neurol 2010;42:280-282.
Introduction Parry-Romberg syndrome is a rare disorder, characterized by progressive facial hemiatrophy of the skin and adipose tissue with a presumed autoimmune etiology. Clinical manifestations of Parry-Romberg syndrome are mainly epilepsy, migraine and ophthalmologic problems including uveitis in addition to the characteristic facial skin lesion [1]. It is also associated with intracranial lesions, typically white matter abnormalities in the cerebral hemisphere ipsilateral to the facial atrophy [2,3]. Alien hand syndrome is another rare neurologic condition, characterized by failure to recognize ownership of one’s limb and with autonomous activity outside voluntary control. It can be caused by various anatomic lesions and
From the Division of Pediatric Neurology, Department of Pediatrics, New York-Presbyterian Hospital, Weill Cornell Medical College, New York, New York.
280 PEDIATRIC NEUROLOGY Vol. 42 No. 4
clinical conditions such as corpus callosum lesions, corpus callosectomy, medial frontal lesions, contralateral frontal strokes, anterior communicating artery rupture, bifrontal penetrating cerebral artery injury, combined posterior corpus callosum and contralateral thalamic lesions, Creutzfeldt-Jakob disease, and Alzheimer’s disease [4]. The exact incidence of these two rare conditions is not known, and in the literature they are represented primarily in sporadic case reports or series. Described here, with discussion of the pathophysiology, is the case of a patient with a diagnosis of Parry-Romberg syndrome who presented with new-onset unilateral alien hand syndrome. Case Report A 9-year-old girl started to have progressive asymmetry and a rightsided concave appearance of her forehead after she fell off the top bunk of a bed at 18 months of age. She subsequently developed right-eye uveitis with a dilated pupil. When she was 5 years old, she was admitted because of 5 weeks of progressive left-sided weakness and gait difficulty. Cranial magnetic resonance imaging on admission indicated minimal signal changes of right cerebral hemisphere and right thalamus on T2-weighted images and fluid-attenuated inversion-recovery (FLAIR) images (Fig 1). Her magnetic resonance angiography findings were normal, with no evidence of vasculitis. A right parietal stereotactic brain biopsy indicated reactive gliosis without evidence of malignancy. After extensive neurologic and rheumatologic evaluation, she was diagnosed with ParryRomberg syndrome, or progressive hemifacial atrophy. She was treated with prednisone, methotrexate, and hydroxychloroquine and experienced a stable clinical course. At age 9, she presented with several months of brief paroxysmal semipurposeful movements of her left arm. She describes two different types of abnormal movements. One is a sudden brief involuntary outreaching of her entire left arm laterally or posteriorly, which lasts for approximately 30 seconds and occurs at least once a week. The other is involuntary grabbing of her hair by her left hand, which lasts for approximately 30 seconds and occurs approximately once a month. She cannot suppress the initiation of those involuntary movements, but can terminate the movements when told to do so. Those two different abnormal movements started around the same time. She denies any specific trigger, sensory changes, or changes in her mental status. Between episodes, the patient returns to her baseline. Her baseline examination indicates prominent right facial atrophy with nasal hypoplasia, normal facial sensation, and right conductive hearing loss. Her ophthalmologic examination indicates evidence of chronic uveitis with anisocoria, the right pupil being larger than the left. She has mild left hemiparesis and cannot manipulate objects with her left fingers. Her sensory modalities are all intact, and her gait is steady. Video electroencephalography indicated intermittent left centrotemporal spikes, contralateral to the lesion. There was no electrographic correlate during an episode of a sudden brief involuntary lateral outreaching of her left arm.
Communications should be addressed to: Dr. Takenouchi; Division of Pediatric Neurology; Department of Pediatrics; New York-Presbyterian Hospital; Weill Cornell Medical College; 525 East 68th Street, Box 91; New York, NY 10021. E-mail: [email protected]. Received September 4, 2009; accepted November 9, 2009.
Ó 2010 by Elsevier Inc. All rights reserved. doi:10.1016/j.pediatrneurol.2009.11.010 0887-8994/10/$—see front matter
Figure 1. Progressive right thalamic lesion is evident on cranial magnetic resonance imaging, fluid attenuated inversion recovery. (A) Axial fluid attenuated inversion recovery magnetic resonance image (1.5 T Signa Excite; GE Healthcare, Milwaukee, WI) of the patient’s brain at age 5, before the onset of alien hand syndrome. Note minimal increased, ill-defined signal change in the right thalamus (arrow). (B) Axial fluid attenuated inversion recovery magnetic resonance image (3 T Signa HDx; GE Healthcare, Milwaukee, WI) of the patient’s brain at age 9, after the onset of alien hand syndrome. Note progressive atrophy and focal gliosis in the right thalamus (arrow). Cranial magnetic resonance imaging after the onset of alien hand syndrome revealed T1 and T2 hyperintensity and significant volume loss of the right thalamus, without contrast enhancement. The finding was interpreted as focal progressive atrophy and gliosis, which had not been apparent on the cranial magnetic resonance imaging done 4 years earlier (Fig 1). She has chronic migraine headaches, but has never had seizures. Given the infrequency of the events and relatively short duration of symptoms, the patient and her family agreed to observe her symptoms without pharmacologic intervention. The patient and her family moved out of the state and were lost to follow-up 3 months after the onset of alien hand syndrome, so the exact duration of the symptom remains unknown.
Discussion The patient’s description of grabbing her own hair without her control is very characteristic of alien hand syndrome. The movement is paroxysmal, brief, involuntary, and stereotypical and involves only her left arm. Classically, two distinct types of alien hand syndrome have been described: frontal and callosal forms. The frontal form typically involves the dominant hand and presents with reflexive grasping, groping, and compulsive manipulation of tools. The callosal form typically involves the nondominant hand and presents with intermanual conflict [4]. A third variant, the posterior form, has been described in a few case reports [5,6]. This form generally involves the nondominant hand, which tends to levitate into the air, displaying ataxic, nonpurposeful, and nonconflictual movements, with relevant sensory impairment and evidence of visual and somatosensory dysfunction [6]. The present patient’s description of the movement is most consistent with frontal alien hand syndrome, but no obvious lesion was identified in the frontal area. Soman et al. [7] reported a pediatric case of alien hand syndrome and dystonia following a right large middle cerebral artery stroke involving thalamus, which also was not typical of the
traditional classification of alien hand syndrome based on the anatomic substrate. There have been reports of alien hand syndrome attributed to isolated contralateral destructive thalamic lesion [6,8]. Because the present patient’s cranial magnetic resonance imaging indicated progressive atrophy of right thalamus and focal gliosis of posterior right thalamus, the new-onset alien hand syndrome was attributed to this contralateral thalamic lesion. Movement disorder in Parry-Romberg syndrome is extremely rare, and a literature search identified only one article, a case report of Parry-Romberg syndrome with paroxysmal kinesigenic dyskinesia [9]. In the present patient, however, the movement was not induced by sudden movement. Her symptomatic etiology with contralateral focal involvement of left arm and lack of family history makes paroxysmal kinesigenic dyskinesia unlikely. Thalamic lesions are known to cause various movement disorders including dystonia [10], and therefore the present patient’s brief dystonic movement of her left arm was attributed to the contralateral thalamic lesion. Intracranial lesions are common in Parry-Romberg syndrome, predominantly as white matter lesions [2,3]. Pathologic specimens in prior case reports indicated evidence of inflammation [11,12]. It is not clear why Parry-Romberg syndrome has a propensity to involve white matter more than gray matter. The present patient had relatively stable but slight atrophy of the right hemisphere, in contrast to the progressive nature of the right thalamic lesion. It is also intriguing that the intracranial lesion in the present patient had a strong propensity to involve deep gray structure rather than white matter or cerebral cortex. There are several case reports of intracranial vascular abnormalities in Parry-Romberg syndrome. Pichiecchio et al.
Takenouchi and Solomon: Alien Hand Syndrome in PRS 281
[13] described a case of Parry-Romberg syndrome with small middle cerebral artery aneurysm. Miedziak et al. [12] reported a case of Parry-Romberg syndrome with hemorrhage and infarct involving deep gray structure and hypoplastic right vertebral artery and a narrowed right intracavernous carotid artery. Woolfenden et al. [14] reported an adult case of Parry-Romberg syndrome presenting with hemiparesis, aphasia, and headache. In that case, the brain biopsy showed inflammatory changes. The magnetic resonance imaging demonstrated white matter changes associated with irregular intracranial vessels on angiography; magnetic resonance angiography did not show evidence of vascular lesions (although magnetic resonance angiography may not detect lesions in small vessels). The natural history of Parry-Romberg syndrome is a progressive disease process [15]. The present patient has developed new symptoms every few years: uveitis at age 4, hemiparesis at 5, then alien hand syndrome at age 9, along with progression of her intracranial findings seen on serial magnetic resonance imaging scans. The patient and her family need to understand the natural course of Parry-Romberg syndrome and remain vigilant about emergence of new symptoms with the progression of the disease.
References [1] Stone J. Parry-Romberg syndrome: a global survey of 205 patients using the Internet. Neurology 2003;61:674-6. [2] Barkovich AJ. The phakomatoses. In: Pediatric neuroimaging. 4th ed. Philadelphia: Lippincott Williams & Wilkins, 2005:498.
282 PEDIATRIC NEUROLOGY Vol. 42 No. 4
[3] Moko SB, Mistry Y. Blandin de Chalain TM. Parry-Romberg syndrome: intracranial MRI appearances. J Craniomaxillofac Surg 2003; 31:321-4. [4] Brazis PW, Masdeu JC, Biller J. In: Localization in clinical neurology. 5th ed. Philadelphia: Lippincott Williams & Wilkins, 2007:496-7. [5] Levine DN, Rinn WE. Opticosensory ataxia and alien hand syndrome after posterior cerebral artery territory infarction. Neurology 1986;36:1094-7. [6] Marey-Lopez J, Rubio-Nazabal E, Alonso-Magdalena L, LopezFacal S. Posterior alien hand syndrome after a right thalamic infarct. J Neurol Neurosurg Psychiatry 2002;73:447-9. [7] Soman T, Steeves TD, Lang AE. Alien hand syndrome and dystonia in a pediatric patient. Mov Disord 2009;24:1557-9. [8] Ventura MG, Goldman S, Hildebrand J. Alien hand syndrome without a corpus callosum lesion. J Neurol Neurosurg Psychiatry 1995; 58:735-7. [9] Mrabet Khiari H, Masmoudi S, Mrabet A. Association of ParryRomberg syndrome and paroxysmal kinesigenic dyskinesia [In French]. Rev Neurol (Paris) 2008;165:489-92. [10] Lee MS, Marsden CD. Movement disorders following lesions of the thalamus or subthalamic region. Mov Disord 1994;9:493-507. [11] Stone J, Franks AJ, Guthrie JA, Johnson MH. Scleroderma ‘‘en coup de sabre’’: pathological evidence of intracerebral inflammation. J Neurol Neurosurg Psychiatry 2001;70:382-5. [12] Miedziak AI, Stefanyszyn M, Flanagan J, Eagle RC Jr. ParryRomberg syndrome associated with intracranial vascular malformations. Arch Ophthalmol 1998;116:1235-7. [13] Pichiecchio A, Uggetti C. Grazia Egitto M, Zappoli F. ParryRomberg syndrome with migraine and intracranial aneurysm. Neurology 2002;59:606-8;discussion 481. [14] Woolfenden AR, Tong DC, Norbash AM, Albers GW. Progressive facial hemiatrophy: abnormality of intracranial vasculature. Neurology 1998;50:1915-7. [15] Lehman TJ. The Parry Romberg syndrome of progressive facial hemiatrophy and linear scleroderma en coup de sabre. Mistaken diagnosis or overlapping conditions? J Rheumatol 1992;19:844-5.