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Is Hirayama a Gq1b Disease?

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Is Hirayama a Gq1b Disease? Neurological Sciences (2019) 40:1743–1747 https://doi.org/10.1007/s10072-019-03758-x LETTER TO THE EDITOR Is Hirayama a Gq1b disease? Sezin AlpaydınBaslo1 & Mücahid Erdoğan1 & Zeynep Ezgi Balçık1 & Oya Öztürk 1 & Dilek Ataklı1 Received: 13 November 2018 /Accepted: 7 February 2019 /Published online: 23 February 2019 # Fondazione Società Italiana di Neurologia 2019 Introduction knowledge, the association between HD and anti-ganglioside antibodies has not been reported before. Hirayama disease (HD) or juvenile muscular atrophy of We herein, present a young male patient who got the diag- distal upper extremity is a rare benign disease of motor nosis of HD, with unilateral complains but bilateral asymmet- neurons that commonly affects the cervical spinal seg- rical hand muscle weakness and atrophy accompanied by bi- ments. It is more prevalent in males and mostly seen in lateral electrophysiology and typical MRI findings. His serum teens and early 20s. Slowly progressive unilateral or was strongly positive (138%) for anti-GQ1b IgG antibody that asymmetrically bilateral weakness of hands and fore- is worth to be mentioned as a notable bystander. arms is typical. Sensory disturbances, autonomic and Informed consent was obtained from the patient included in upper motor neuron signs are extremely rare [1]. As the study. the synonym Bbenign focal amyotrophy^ implies, it reaches a plateauafterafewyears.Electromyographyrevealsasymmetri- cal chronic denervation in C7, C8, and T1 myotomes. Case Preservation of C6 myotomes is remarkable. Supportive MRI findings are anterior shift of posterior dura, enlargement of epi- A 17-year-old male was admitted with a 1 year’shistoryof dural space, and venous congestion under neck flexion. slowly progressive weakness and atrophy of right hand and Recently, serum anti-ganglioside antibodies and their asso- forearm. He also mentioned the tremulousness of both hands ciation with motor neuron diseases have become a conflict of for 6 months. He had no past medical history, and his family interest. Elevated levels of anti-ganglioside antibodies in mo- history was not significant. Neurological examination re- tor neuron diseases had been reported with different rates vealed atrophy of his right hand intrinsic (Fig. 1) and forearm ranging between 5 and 57% [2, 3]. However, so far to our muscles with preservation of brachioradialis. He had weak- ness of both-sided digit abduction, adduction, and thumb op- position, with predominance on the right. Palmar grasps were also impaired. No upper motor neuron signs were observed. * Sezin AlpaydınBaslo Sensorial examination was normal. No autonomic signs were [email protected] noted. Complete blood count and biochemistry were normal. Viral serology, markers for vasculitis, and malignancies were Mücahid Erdoğan negative. [email protected] Nerve conduction studies (NCS) revealed reduced ulnar Zeynep Ezgi Balçık nerve compound muscle action potential (CMAP) amplitudes [email protected] bilaterally which was more prominent at the symptomatic Oya Öztürk side. Median nerve CMAP amplitudes were in between nor- [email protected] mal ranges bilaterally although slightly lower in the symptom- Dilek Ataklı atic right side compared to the asymptomatic left side (Fig. 2). [email protected] No conduction block was observed throughout the nerve course. The ulnar/median CMAP ratio was 0.34 (2.7/ 1 Department of Neurology, University of Health Sciences, Bakirkoy 7.9 mV) on the right side and 0.43 (5.2/12.1 mV) on the left. Prof. Dr. Mazhar Osman Training and Research Hospital for Psychiatric, Neurologic, and Neurosurgical Diseases, Zuhuratbaba Sensory NCS were normal. Electromyography (EMG) re- mah. Dr. Tevfik Sağlam cad. No: 25/2 Posta Kodu: 34147 Bakırköy, vealed motor unit potentials with increased amplitude, Istanbul, Turkey prolonged duration, and a reduced interference pattern at 1744 Neurol Sci (2019) 40:1743–1747 Fig. 1 Wasting of intrinsic hand muscles, note the right side prominence maximal effort in muscles of bilateral C7, C8, and T1 myo- negative < 30%, greyzone 30–50%, positive 50–100%, tomes. Mild ongoing denervation activity was also observed strongly positive > 100%). distally at right side. F waves were unelicitable in response to Overall, clinical features and electrophysiological and ra- right ulnar and left median nerve stimulation. Although the diological findings of our patient were supportive for HD. persistence of F waves recorded with left-sided ulnar nerve With the diagnosis of HD, he was referred to rehabilitation stimulation was full, the amplitudes were increased. clinic. In order to prevent further cord injury, physiotherapy The MRI at neutral position revealed a slight atrophy of andcervicalcollarwererecommended. spinal cord at C6 and C7 levels and high signal intensity at C3–C6 levels. Flexion of the neck showed forward displace- ment of posterior dural sac with engorgement of posterior Discussion epidural space. Epidural venous plexus became prominent with flow void signals (Fig. 3). Cranial MRI was not signifi- HD was first reported as juvenile muscular atrophy of unilat- cant. Cerebrospinal fluid direct examination and biochemistry eral upper extremity by Hirayama et al. in 1959 [1]. Synonyms were normal. that have been used previously are Bjuvenile asymmetric seg- The presence of serum antibodies was determined with an mental spinal muscular atrophy^, Bmonomelic amyotrophy^, enzyme-linked immunosorbent assay (ELISA) (Table 1). Boblique atrophy^ (due to brachioradialis sparing), and Serum anti-GM-1, anti-GM2, anti-GD1a, anti-GD1b IgG Bbenign focal amyotrophy^. It is a rare and benign disease and IgM, and anti-GQ1b IgM were negative. However, serum of motor neurons presented as weakness and wasting of upper anti-GQ1b IgG was strongly positive (138%) (normal ranges: extremity muscles unilateral or asymmetrically bilateral. Fig. 2 Motor nerve conduction studies and CMAPs recorded from right [APB Abductor pollicis brevis, ADM abductor digiti minimi, EDB and left m. abductor digiti minimi by ulnar nerve stimulation at wrist, extensor digitorum brevis, AH abductor hallucis, (R) right, (L) left] respectively. No conduction block was observed by proximal stimuli Neurol Sci (2019) 40:1743–1747 1745 Fig. 3 T2-weighted MRI of the cervical spinal cord (a). Neutral position showed a slight cord atrophy at C6–C7 and high signal intensity at C3-C6 levels (b). Anterior shift of posterior dura, engorgement of posterior epidural space, and congestion of epidural venous plexus with neck flexion Typically, C7, C8, and T1 myotomes are involved and C6 is column and the structures in it [8]. Similarly, Bimbalanced spared. It is more prevalent in males between the ages of 15 growth^ hypothesis of Toma proposed compression of spinal and 25 years. Onset is insidious and slowly progressive, with a cord by inflexible dura during neck flexion and spinal cord plateau seen in a few years [4]. Approximately 80% of the atrophy due to repetitive neck flexions and microtraumas [8, patients complain about worsening of symptoms with cold 9]. Tashiro et al. stated that male predominance may be ex- [5]. Irregular tremors named Bminimyocloni^ may be seen plained by faster growth in males than females during puberty as well. Cranial neuropathies, sensorial, pyramidal signs, au- which is in parallel to Toma’s hypothesis [10]. Khadilkar et al. tonomic disturbances, and cerebellar deficits are extremely reported proportionally longer neck comparing to the whole rare [6]. spine which was expressed as low spine to neck ratio in HD The disease is described as sporadic but rare familial forms patients (mean value of 5.6) than non-HD patients (mean val- have also been reported [7]. Pathogenesis is still debated. ue of 6.15), a factor probably contributing to the dynamic Spinal cord ischemia caused by a mechanical stress (either changes with a proof of imbalanced growth [11]. Our patient, cervical flexion or disproportional growth of spinal column), a 17-year-old male, was 1.88 m tall and had a whole spine to or by some autoimmune processes, have been accused. neck ratio of 4.7 (85:18), which supports the faster and dis- Genetic disturbances were suggested as well. Hirayama et al. proportional growth hypothesis of the spinal column. On the pointed the disease onset as approximately 2 years after the other hand, Hirayama et al. also noted macroscopic flattening longitudinal growth peak in juvenile patients and speculated of the antero-posterior axis of the cervical spinal cord at the that HD might be related to a disproportional growth of spinal C7–8 levels (8), and microscopy revealed anterior horns shorter than half of the anterior-posterior diameter of the spi- Table 1 Serum anti-ganglioside antibody panel nal cord. This is what Bdynamics^ hypothesis of Hirayama suggests: circulatory insufficiency and central necrosis in the Result Value (%) anterior horns (particularly at C7 and C8 levels) and various Anti-Asialo GM1 IgG Negative 5 degeneration of the large and small neurons at the periphery Anti-Asialo GM1 IgM Negative 6 during neck flexion. Apart from imbalanced growth and dy- Anti-GM 1 IgG Negative 5 namics hypothesis, elevated serum IgE levels and atopy were Anti-GM1 IgM Negative 7 also reported as a precipitator immunologic factor in HD pa- Anti-GM2 IgG Negative 5 tients [12]. Anti-GM2 IgM Negative 11 Distal spinal muscular atrophy, amyotrophic lateral scle- Anti-GD1a IgG Negative 5 rosis (ALS), postpolio syndrome, multifocal motor neurop- Anti-GD1a IgM Negative
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