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A 33-year-old man presented with slowly progressive weakness in the lower extremities over 8 years. At the age of 16 years, the elevation of serum creatine kinase level was detected. Physical examination revealed scapular winging, exaggerated lumbar lordosis and tendoachilles contracture. Gowers sign was positive and proximal dominant limb weakness was noted. Hypertrophy was observed in the upper limbs such as the biceps brachii and forearm flexor muscles. Muscle biopsy showed distinct differences in size of muscle fibers and regenerating and necrotic muscle fibers. A histological study revealed decreased calpain3 expression. Gene analysis of CAPN3 revealed two known gene mutations, leading to a diagnosis of calpainopathy (limb girdle muscular dystrophy 2A; LGMD2A). We here report our patient to discuss findings of upper limb hypertrophy, which are frequently missed compared to the lower limb, but important clinical findings.

A 70-year-old woman noticed difficulty in speech and weakness of the left upper and lower limb upon awakening. Neurological examination showed dysarthria and left hemiparesis. No sensory disturbance was observed. Brain MRI revealed acute infarction in the right posterior limb of the internal capsule. On the hospital day 1, she developed the abnormal sensations restricted to the bilateral shoulders, resulting in difficulty initiating sleep. On laboratory data, renal function and serum hemoglobin and ferritin levels were normal. When four essential features of restless legs syndrome (RLS) were applied to her shoulders, the patient met RLS criteria. Following low dose pramipexole treatment, the abnormal sensation of the shoulders and insomnia significantly improved. We should be aware of the possibility of RLS or its variant, including "restless shoulder" of our patient, for the cause of insomnia following acute ischemic infarction.

A 50-year-old woman presented with constriction sensation in the lower part of the chest, paresthesia in the right forearm and hypesthesia in the right thigh. One month later, she noticed a loss of sense of smell. The normal findings of the nasal mucosa and the impaired results of standard olfactory acuity test (T&T olfactometry) and intravenous olfactory test (Alinamin test) suggested a lesion proximal to the nasal mucosa. Sensory disturbances in the segmental areas of cervical, thoracic and lumbar regions were clinically and electrophysiologically attributed to polyradiculopathy. MRI of the brain and whole spine revealed no abnormalities. Cerebrospinal fluid examination showed lymphocytic pleocytosis. Sarcoidosis was diagnosed based on the findings including an elevated serum angiotensin-converting enzyme level, bilateral hilar lymphadenopathy on the chest CT and histological evidence of noncaseating granulomas. Methylprednisolone pulse therapy improved the olfactory and sensory disturbances. Neurosarcoidosis should be considered in the differential diagnosis of olfactory impairment.

We present the case of a 31-year-old woman who developed N-methyl-d-aspartate (NMDA) receptor encephalitis during the course of relapsing and remitting multiple brain lesions. The patient developed a tingling sensation in the left upper and lower extremities, and was first admitted to our hospital at age 27. She was tentatively diagnosed with multiple sclerosis on the basis of multiple lesions with Gd-enhancement in the brainstem, and 2 separate clinical relapses by age 28. At age 31, she developed a headache and pyrexia, followed by confusion and abnormal behavior. Her symptoms acutely progressed to stupor, and subsequently, she developed oral dyskinesia and athetosis-like involuntary movement of the left arm. The stupor state continued over 2 months. However, she had completely recovered by 3 months after the onset of psychiatric symptoms. Her serum and CSF samples tested positive for anti-NMDA receptor antibodies, and she was diagnosed with NMDA receptor encephalitis. Her serum was negative for anti-AQP4 antibody, but showed weak positivity for antinuclear antibody. Between ages 32 and 34, she experienced 2 clinical relapses, including right-hand clumsiness, confusion, aphasia, and dysphagia. FLAIR images showed a high-intensity area in the brain stem, thalamus, and subcortical white matter. No tumors were found throughout the course. A clinical entity of NMDA receptor encephalitis can include various neurologic disorders, such as the development of recurrent demyelinating brain lesions. Further investigation is required to clarify the pathophysiological role of anti-NMDA receptor antibody in our patient.