A cervical myelopathy with a Hirayama disease-like phenotype.
A 21-year-old man with a muscular atrophy of the left distal upper extremity is presented. The disorder had been progressive over a few years, showing an exacerbation of the hand's weakness when the patient worked in a chilled environment (i.e., in a cold room). The patient's diagnostic work-up was extensive and the MRI documented the presence of a cervical myelopathy, associated to an inversion of the physiological lordosis at the C5-C6 level, with a phenotype highly resembling Hirayama disease. This case indirectly supports the debated hypothesis that juvenile amyotrophy of the upper limb (Hirayama disease) is actually a type of cervical myelopathy, with a likely ischaemic pathogenesis of the ventral horns.
Cerami
Chiara
C
ALS Clinical Research Center Department of Clinical Neurosciences, University of Palermo, Via G La Loggia 1, 90129, Palermo, Italy.
Valentino
Francesca
F
Piccoli
Federico
F
La Bella
Vincenzo
V
D001132:Arm / Q000294:innervation / Q000473:pathology / Q000503:physiopathology; D002574:Cervical Vertebrae / Q000473:pathology* / Q000503:physiopathology; D003080:Cold Temperature / Q000009:adverse effects; D012090:Cumulative Trauma Disorders / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D018450:Disease Progression; D007839:Functional Laterality / Q000502:physiology; D006801:Humans; D007511:Ischemia / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D007738:Kyphosis / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D018908:Muscle Weakness / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology; D009434:Neural Pathways / Q000293:injuries / Q000473:pathology / Q000503:physiopathology; D009784:Occupational Diseases / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D013116:Spinal Cord / Q000098:blood supply / Q000473:pathology / Q000503:physiopathology; D013117:Spinal Cord Compression / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology; D013577:Syndrome; D055815:Young Adult