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Neuroacanthocytosis in Two Brothers: an Ultra-Rare Cause of Movement Disorder

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Neuroacanthocytosis in Two Brothers: an Ultra-Rare Cause of Movement Disorder Caspian Journal of Neurological Sciences http://cjns.gums.ac.ir Neuroacanthocytosis in Two Brothers: An Ultra-rare Cause of Movement Disorder Ghabeli-Juibary Ali (MD) 1, Rezaeitalab Fariborz (MD) 2* A R T I C L E I N F O A B S T R A C T Article type: We report a rare genetic disorder case of neuroacanthocytosis with clinical Case Report profile (oro-lingual-facial abnormal involuntary movements, neuropathy) and typical magnetic resonance findings (cerebral atrophy, bilateral caudate nuclei atrophy with dilated anterior horns of the lateral ventricles), positive family Article history: history in his brother and acanthocytosis in peripheral blood smear. Received: 18 January 2016 Accepted: 11 June 2016 Available online: 30 June 2016 CJNS 2016; 2 (5): 50-53 1. Resident of Neurology, Student Research Committee, Department of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran 2. Assistant Professor of Neurology, Department of Neurology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Keywords: Neuroacanthocytosis; Chorea; Dystonia; Magnetic Resonance Imaging *Corresponding author: Assistant Professor of Neurology, Copyright © [2016] Caspian Journal of Neurological Sciences. All rights reserved. Department of Neurology, School of Medicine, Mashhad University of Please cite this paper as: Medical Sciences, Mashhad, Iran Ghabeli-Juibary A, Rezaeitalab F. Neuroacanthocytosis in Two Brothers: An Ultra-rare Cause Email: [email protected] of Movement Disorder. Caspian J Neurol Sci 2016; 2(5): 50-53. Introduction euroacanthocytosis syndromes are a incorporated in this group of syndromes (1,2). Downloaded from cjns.gums.ac.ir at 6:16 IRDT on Thursday April 27th 2017 [ DOI: 10.18869/acadpub.cjns.2.5.50 ] group of genetically inherited Chorea-acanthocytosis is rare, with an N diseases defined by red blood cell estimated around 1000 cases worldwide (2). acanthocytosis accompanied with progressive This disorder is characterized by the degeneration of the brain basal ganglia. The following features: 1- onset in young core neuroacanthocytosis syndromes mainly adulthood of chorea and/or Parkinsonism, encompass of the two diseases, chorea- oro-lingual-facial dystonias, tics, social acanthocytosis and the McLeod syndrome. disinhibition, seizures, areflexia, and distal Huntington's disease-like 2, and pantothenate muscle wasting. 2- The recognizable kinase-associated neurodegeneration (PKAN) appearance of thorny or spiky erythrocytes are very rare but these diseases can also be called acanthocytosis. The mean age of onset 50 Neuroacanthocytosis and Movement Disorder Ghabeli-Juibary A, Rezaeitalab F was 35 years in a systemic review with a His brother on examination revealed broad range from the first to the seventh revealed odd lurching type of gait and violent decade. Initial clinical symptoms can vary trunk spasm. Deep tendon reflexes (DTRs) widely (1-3). The main syndrome is a result were absent. The neurological examination of an autosomal recessive mutation. However, otherwise was normal. the other subtypes are X-linked (McLeod Complete blood count indices and serum type) or autosomal dominant (1). The main electrolyte assays, all were in normal range in differential diagnoses are Wilson disease and our patient. Ceruloplasmin and copper serum Huntington's disease (3). level were normal with mild elevation of urinary copper level. Brain magnetic Case Presentation resonance imaging showed cerebral atrophy, atrophy of bilateral caudate head and A 36 year old right handed married male, dilatation of anterior horn of lateral ventricles admitted to the neurology ward of Qaem (Figure 1). hospital (Mashhad University of Medical Sciences) with complaint of abnormal involuntary movements. He came from a family of three brothers and five sisters with preliminary education. His problem had initiated with vocal tics, sucking, whistling and grunting from 4 years ago. The vocal disorder was superimposed by movement abnormalities including shoulder shrugs and flinging arm. His past medical and drug history was negative. On family history, we found that one of his brothers had suffered from severe gait impairment since 2 years ago. Figure1. Atrophy of the head of caudate nuclei; and cerebral atrophy The mental Status was normal with MMSE in axial brain MRI of 27. He had mild dysarthria with normal cranial nerves, Muscle strengths were Peripheral blood smear showed 20% bilaterally normal (5/5) without any atrophy acanthocytosis (Figure 2). Downloaded from cjns.gums.ac.ir at 6:16 IRDT on Thursday April 27th 2017 [ DOI: 10.18869/acadpub.cjns.2.5.50 ] on motor examination. He suffered from hyperactive, involuntary frequent, brief, sudden movement in both arms, shoulder shrugging, oromandibular abnormal involuntary movements including tongue protrusion. Examination of deep tendon reflexes (DTR) showed generalized absent DTRs. There was no Babinski sign. Sensory examination revealed mild vibration sensation Figure2. The spiked red blood cells (acanthocytes) in peripheral blood. impairment. 51 Caspian J Neurol Sci 2016 June; 2(5): 50-53 Other laboratory data included mild Dysarthria is common and may be a elevation of liver enzyme (AST, ALT). presenting symptom (4,5). Generalized tonic- Electrodiagnostic studies showed mild clonic or partial complex seizures occur in sensory- motor axonal polyneuropathy. half of patients; some patients develop Search for Kayser–Fleischer rings (KF rings) epilepsy as their initial clinical manifestation was negative on ophthalmologist consult (1,2). In many patients, seizures are found to request. Abdominal sonography searching for originate from one or both temporal lobes liver pathology was normal. (1,2). Neuropathy is often subclinical, manifesting with distal muscle wasting, Discussion depressed distal deep tendon reflexes, and The movement disorder is often the most mild sensory abnormalities, particularly prominent clinical feature of impaired vibration sense (3,4). Subtle eye neuroacanthocytosis. Although some patients movement abnormalities may occur, such as may present with Parkinsonism, chorea is the impaired upgaze (2,3); however, our patients typical manifestation. Flinging arm and leg did not show this sign. Significant disability movements, shoulder shrugs, and pelvic may occur in just a few years after onset of thrusts are common presentations. symptoms (1-3). Death usually occurs Ambulation is usually severely affected with between the ages of 28 to 61 years (2,3). an odd lurching type of gait. Falls, violent Acanthocytes usually constitute 5 to 50 trunk spasms and impaired postural reflexes percent of the circulating RBCs. Most are common (1-3). patients have elevated serum CK levels Dystonia affecting the mouth region and without any clear explanation. Less pharynx are characteristic feature in these commonly, LDH, AST, and ALT serum patients. Repetitive tongue protrusions, so- levels may be elevated (4-6). Like this called “feeding dystonia”, combined with patient, MR imaging may show atrophy of the impaired swallowing can cause cachexia. caudate head and dilatation of the anterior Tongue and lip biting are characteristic horns of the lateral ventricles. Functional features; patients may learn to put a towel in neuroimaging studies also propose the the mouth to prevent such self-mutilation (2- striatum as an area of primary abnormality (2- 4). 5). Vocal tics consisting of gasping, sighing, Nerve conduction studies reveal features whistling, blowing, sucking, and humming suggestive of a sensory axonal neuropathy Downloaded from cjns.gums.ac.ir at 6:16 IRDT on Thursday April 27th 2017 [ DOI: 10.18869/acadpub.cjns.2.5.50 ] occur in most of patients (1,2). with low SNAP amplitudes but normal A "frontal lobe syndrome" may occur in conduction velocities. Motor nerve these patients, which may include social and conduction studies may be entirely normal. sexual disinhibition, impaired decision- Electromyography divulges evidence of making capacity, impaired insight, obsessive chronic denervation with reinnervation (3-8). compulsive tendencies, and self-neglect. The The diagnosis is based on recognizing the neuropsychiatric symptoms may present characteristic clinical features with peripheral before the movement disorder (2,4-6). acanthocytosis and normal lipid studies. Impaired memory and executive Follow-up mutational analysis of the genes functioning are common but not invariable. can be performed, however, this is 52 Neuroacanthocytosis and Movement Disorder Ghabeli-Juibary A, Rezaeitalab F challenging due to the large size of the gene Early Clinical Heterogeneity in and the heterogeneity of mutation sites. Choreoacanthocytosis. Arch Neurol 2005; 62:611-4. Molecular genetic testing for corresponding 3. Hardie RJ, Pullon HW, Harding AE, Owen mutations is not widely available (9-11). No JS, Pires M, Daniels GL, et al. curative or disease modifying therapy for Neuroacanthocytosis. A Clinical, neuroacanthocytosis exists. Treatment is Haematological and Pathological Study of 19 aimed at symptom management. A Cases. Brain 1991; 114 (Pt 1A):13-49. 4. Jung HH, Danek A, Walker RH. multidisciplinary approach to disease Neuroacanthocytosis Syndromes. Orphanet J management is suggested (1,2). Rare Dis 2011;25;6:68 5. Bruce LJ, Kay MM, Lawrence C, Tanner MJ. Conclusion Band 3 HT, a Human Red-cell Variant Associated with Acanthocytosis and Increased The diagnosis of Neuroacanthocytosis in Anion Transport, Carries the Mutation Pro- this case could be considered
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