Hirayama Disease: Case Report*

Abstract

A 26-year-old previously healthy patient who, at the age of 18 years, began progressive loss of distal strength, rest tremor, and muscle atrophy in the left upper limb. Upon examination, the patient presented moderate distal atrophy, degree 4 in muscular strength, and minipolymioclonus. Electromyoneurography revealed (EMNG) chronic preganglionic bilateral involvement of bilateral C7/C8/T1, worse on the left, with signs of active C8/T1 denervation. A cervical spine magnetic resonance imaging (MRI) scan showed spondylodiscal degenerative changes with central protrusions in C4-C5, C6-C7, and right central in C5-C6, which touched the dural sac. The anteroposterior diameter of the medulla in neutral position, in the C5-C6 plane, was of 5.1 mm. There was a reduction of the spinal cord caliber to 4.0 mm after the dynamic maneuver of forced flexion of the spine, as well as signal increase in the anterior horns. The clinical findings and those of the complementary tests were compatible with Hirayama disease (HD), a rare benign motor neuron disease that affects cervical spinal segments and is most prevalent in men, with onset in the early 20s. Unilateral and slowly progressive weakness is typical, but self-limited. Sensory disturbances, and autonomic and upper motor neuron signals are rare.

Management is usually conservative, with the use of a soft cervical collar. Although rare, HD should be considered in young patients with focal asymmetric atrophy in the upper limbs. The early diagnosis of HD depends on the degree of suspicion, as well as on the cooperation and communication among the various specialties involved in the investigation.

Keywords

Hirayama disease - muscular atrophy, spinal - spinal cord - magnetic resonance imaging

Financial Support

This present study received no financial support from public, commercial, or non-profit sources.

^# Work developed at Hospital Universitário de Brasília, Brasília, DF, Brazil.

Publication History

Received: 30 May 2021

Accepted: 14 October 2021

Article published online:
10 August 2022

• Referências

• 1 Hirayama K. Juvenile muscular atrophy of distal upper extremity (Hirayama disease). Intern Med 2000; 39 (04) 283-290
• 2 Tashiro K, Kikuchi S, Itoyama Y. et al. Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan. Amyotroph Lateral Scler 2006; 7 (01) 38-45
• 3 Vitale V, Caranci F, Pisciotta C. et al. Hirayama's disease: an Italian single center experience and review of the literature. Quant Imaging Med Surg 2016; 6 (04) 364-373
• 4 Kandukuri GR, Acosta NR. Significance of Dynamic Imaging in Diagnosis of Hirayama Disease: A Rare Case Report and Literature Review. Kans J Med 2020; 13 (13) 58-60
• 5 Hassan KM, Sahni H. Nosology of juvenile muscular atrophy of distal upper extremity: from monomelic amyotrophy to Hirayama disease–Indian perspective. BioMed Res Int 2013; 2013: 478516
• 6 Raval M, Kumari R, Dung AA, Guglani B, Gupta N, Gupta R. MRI findings in Hirayama disease. Indian J Radiol Imaging 2010; 20 (04) 245-249
• 7 Huang YL, Chen CJ. Hirayama disease. Neuroimaging Clin N Am 2011; 21 (04) 939-950 , ix–x
• 8 Tokumaru Y, Hirayama K. [Cervical collar therapy for juvenile muscular atrophy of distal upper extremity (Hirayama disease): results from 38 cases]. Rinsho Shinkeigaku 2001; 41 (4-5): 173-178