Case report of a patient with Morbus Hirayama - presentation, diagnosis and differential diagnostic aspects
Keywords:
Hirayama disease, phenotypeAbstract
Hirayama disease, also known as monomelic amyotrophy, is a rare disease characterized by slowly progressive muscle weakness and atrophy in one upper limb, most commonly in the muscles groups of the forearm and wrist. In addition to taking a detailed neurological status, electromyography (EMG) and magnetic resonance imaging (MRI) of the cervical region, native and after contrast enhancement of the image, in a neutral position and flexion, play a key role in the diagnosis process. In terms of differential diagnostic, more common disorders such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA) and advanced carpal tunnel syndrome should be considered. We report „Hirayama disease” in a 16-year-old female who presented with gradual right upper limb weakness and wasting in the distal muscles, that was confirmed by electrophysiological and neuroimaging studies.
References
[Popova, G. Auksologiia: izmervane i otsenka na rastezha v detska vazrast. Prakticheska pediatriia, 2019, 10]
Aundhakar, S., Mahajan, S., Chhapra, D. Hirayama's Disease: A Rare Clinical Variant of Amyotrophic Lateral Sclerosis. Adv Biomed Res, 2017, 6, 95.
Ay, H. Hirayama disease (monomelic amyotrophy) clinically confused for carpal tunnel syndrome. Neuropsychiatr Dis Treat, 2017, 13, 1385-1388.
Chan, Y., Kay, R., Schwartz, M. Juvenile distal spinal muscular atrophy of upper extremities in Chinese males: A single fibre electromyographic study of arms and legs. J Neurol Neurosurg Psychiatry, 1991, 54, 165-166.
Fetoni, V., Briem, E., Carrara, F., Mora, M., Zeviani, M. Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene. Neuromuscul Disord, 2004, 14, 11, 723-726.
Fieschi, C., Gottlieb, A., De Carolis, V. Ischaemic lacunae in the spinal cord of arteriosclerotic subjects. J Neurol Neurosurg Psychiatry, 1970, 33, 2, 138-146.
Foster, E., Tsang, B., Kam, A., Storey, E., Day, B., Hill, A. Hirayama disease. J Clin Neurosci, 2015, 22, 6, 951-954.
Galletta, K., Gaeta, M., Alafaci, C., Vinci, S., Longo, M., Grasso, G., Granata, F. Hirayama disease – Early MRI diagnosis of subacute medullary ischemia: A case report. Surg Neurol Int, 2020, 11, 115.
Gourie Devi, M., Nalini, A. Long term follow-up of 44 patients with brachial monomelic amyotrophy. Acta Neurol Scand, 2003, 107, 215–220
Grad, L., Rouleau, G., Ravits, J., Cashman, N. Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS). Cold Spring Harb Perspect Med, 2017, 7, 8.
Guennoc, A.-M., Heuze-Vourc'h, N., Gordon, P., Courty, Y., Vourc'h, P., Andres, C., Corcia, P. Benign lower limb amyotrophy due to TARDBP mutation or post-polio syndrome? Amyotroph Lateral Scler Frontotemporal Degener, 2013, 14, 5-6, 476-478.
Hirayama, K., Toyokura, Y., Tsubaki, T. Juvenile muscular atrophy of unilateral upper extremity: a new clinical entity. Psychiatr Neurol Jpn, 1959, 61, 2190–2198.
Hirayama, К. Juvenile muscular atrophy of unilateral upper extremity (Hirayama disease) – half-century progress and establishment since its discovery. Brain Nerve, 2008, 60, 1, 17-29.
Lim, Y.-M., Koh, I., Park, Y.-M., Kim, J.-J., Kim, D.-S., Kim, H.- J., Baik, K.-H., Choi, H.-Y., Yang, G.-S., Also-Rallo, E., Tizzano, E., Gamez, J., Park, K., Yoo, H.-W., Lee, J.-K., Kim, K.-K. Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. Neuromuscul Disord, 2012, 22, 5, 394-400.
Lolli, V., Sarbu, N., Pezzullo, M., Mavroudakis, N. Flexion MRI in a case of Hirayama disease. Radiol Case Rep, 2020, 15, 9, 1701-1704.
Rowin, J., Meriggioli, M., Cochran, E. Monomelic amyotrophy with late progression. Neuromuscul Disord, 2001, 11, 305-308.
Sullivan, O., McLeod, J. Distal chronic spinal muscular atrophy involving the hands. J Neurol Neurosurg Psychiatry, 1978, 41, 653-658.
Tavee, J., Levin, K. Myelopathy due to degenerative and structural spine diseases. Continuum (Minneap Minn), 2015, 2, 1, 52-66.
Wang, X.-N., Cui, L.-Y., Liu, M.-S., Guan, Y.-Z., Li, B.-H., Hua, D. A clinical neurophysiology study of Hirayama disease. Chin Med J (Engl), 2012, 125, 6, 1115-1120.
Downloads
Published
How to Cite
Issue
Section
ARK
License
Copyright (c) 2021 Bulgarian Neurology
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
