A group of 20 consecutive patients with amyotrophic lateral sclerosis (ALS) were evaluated using electromyography (EMG) and ultrasonography (US) of the tongue. Their records were reviewed retrospectively for the rates at which abnormalities were detected by these two modalities as well as their clinical features. Visual inspection detected abnormalities in 9 of 20 patients, EMG in 12, and US in 6. However, EMG detected active denervation earlier than did US in 7 of the 12 EMG-diagnosed patients, and US detected fasciculation earlier than did EMG in 1 of the 6 US-diagnosed patients. Thus, we cannot replace EMG completely with US. Indeed, we currently use both methods complementarily at our hospital.
We report a 44 years old man with slowly progressive muscular atrophy of the extremities for over 30 years. He experienced difficulty in walking in his 10’s and was diagnosed as hereditary spastic paraplegia (HSP) in his 20’s. And then, muscle atrophy of the extremities slowly progressed especially in his distal muscles. Sensory axonal neuropathy was detected with sural nerve biopsy. His father and uncle have been diagnosed as HSP in their early days. His father noticed weakness of his leg in his 20’s. He lost motor function of the leg in his 60’s. In addition, marked disturbance of thermal sensation, vibration, and sense of position were found by physical examination. Our genetic study detected senataxin (SETX) gene mutation (c.8C>T,p.T3I) in the blood of those two patients, and they had been identified as family cases of amyotrophic lateral sclerosis (ALS) 4. As clinical symptoms of ALS4 would be similar to those of HSP at the onset, we suggest considering ALS4 in seeing patients with HSP without gene diagnosis.
Nemaline myopathy commonly presents with symmetrical proximal weakness. Here we report two cases of nemaline myopathy presenting with distal dominant involvement with prominent asymmetry. Case 1 was a 37-year-old man who recalled frequently falling down and had right calf atrophy since he was 3-years-old. He had right calf muscle atrophy and weakness and steppage gait; his cardiopulmonary function was normal. Case 2 was a 35-year-old man with right calf muscle atrophy and weakness since childhood. He had right dominant distal leg weakness and atrophy together with respiratory failure and started noninvasive positive pressure ventilation. He also developed cardiomyopathy and died from acute respiratory failure due to pneumonia at age 39. Both cases harbored compound heterozygous nebulin (NEB) mutations with c.20131 C>T:p.Arg6711Trp and a nonsense mutation. Nemaline myopathy associated with NEB mutations can present as distal dominant myopathy with prominent asymmetry.
A 26-year-old right-handed woman, with a history of left temporal lobe contusion caused by a fall at the age of 9 months, started to have complex partial seizures with oral automatism at the age of 7 years. The seizures occurred once or twice a month despite combination therapy with several antiepileptic agents. Her history and imaging studies suggested the diagnosis of epilepsy arising from traumatic neocortical temporal lesion. Comprehensive assessment including long-term video EEG monitoring, MRI, FDG-PET, MEG, and neuropsychological evaluation was performed at the age of 26 years. The diagnosis was left mesial temporal lobe epilepsy associated with hippocampal atrophy and traumatic temporal cortical lesion. The patient was readmitted for surgical treatment at the age of 27 years. Intracranial EEG monitoring showed that ictal discharges started in the left hippocampus and spread to the traumatic lesion in the left posterior superior temporal gyrus 10 seconds after the onset. This case could not be classified as dual pathology exactly, because the traumatic left temporal cortical lesion did not show independent epileptogenicity. However, the traumatic lesion was highly likely to be the source of the epileptogenicity, and she had right hemispheric dominance for language and functional deterioration in the whole temporal cortex. Therefore, left amygdalo-hippocampectomy and left temporal lobectomy including the traumatic lesion were performed according to the diagnosis of dual pathology. Subsequently, she remained seizure-free for 3 years. Comprehensive assessment of seizure semiology, neurophysiology, neuroradiology, and neuropsychology is important to determine the optimum therapeutic strategies for drug-resistant epilepsy.
There have been 23 reports of primary central nervous system anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma in the literature. Here we report the 24th case of a 40-year-old man who presented with occipital headache for one month. His contrast-enhanced brain MRI showed enhancement around the right temporal lobe, which suggested a diagnosis of hypertrophic pachymeningitis. He improved with steroid therapy. After discharge, however, he was readmitted with generalized convulsive seizures. Finally, he was diagnosed as primary central nervous system ALK-positive anaplastic large cell lymphoma by brain biopsy. Primary central nervous system lymphoma invading dura matter can rarely manifests as a unilateral pachymeningitis. Therefore, in case of pachymeningitis, we should pay attention to the possibility of infiltration of lymophoma with meticulous clinical follow-up.
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 64-year-old woman was admitted to our hospital owing to decreased visual acuity and visual field defect. She had a similar history of decreased visual acuity and received steroid therapy 10 years ago. Brain MRI revealed gadolinium-enhancement in the sheath of the optic nerve, called “tram-track” and “doughnut” signs. Optic perineuritis (OPN) was diagnosed on the basis of her clinical manifestations, which improved on treatment with high-dose methylprednisolone (mPSL). However, clinical manifestations relapsed 10 days post-discharge; hence, she was re-admitted. She was re-administered high-dose mPSL and subsequent oral administration of prednisolone. She had no relapse or recurrence for the last 2 years. We reviewed studies involving Japanese patients with OPN, including 17 idiopathic and 14 secondary cases and found that 43% of patients had recurrences and 30% of patients had poor outcome including severe residuals of visual acuity. Secondary OPN occurred owing to various diseases manifesting generalized systematic inflammation. Timely and suitable treatment was very important for clinical favorable outcomes in OPN.
A 20-year-old woman first developed acute disseminated encephalomyelitis (ADEM) at 11 years of age. At 17 years of age, she was hospitalized due to generalized seizure and diagnosed with encephalitis. Brain MRI revealed a FLAIR-hyperintense lesion in the unilateral cerebral cortex. At 18 years of age, serum anti-myelin oligodendrocyte glycoprotein (MOG) antibody was detected. At 20 years of age, she was admitted to our hospital, diagnosed with multifocal disseminated encephalomyelitis (MDEM). MDEM has been observed in patients that are seropositive for the anti-MOG antibody. More recently, unilateral cerebral cortex encephalitis with epilepsy has also been reported in such patients. The co-occurrence of MDEM and cortical encephalitis in the same patient has important implications for the pathogenesis of anti-MOG antibody-associated autoimmune diseases.
A 65-year-old man initially developed numbness and hypesthesia in the right shoulder and brachial regions that disappeared within several months. MRI revealed a small lesion extending to a vertebral segment in the right dorsal region of the cervical spinal cord at the vertebral height of C2/3. About 15 months later, the intermittent lancinating pain identical to the right trigeminal and occipital neuralgia with pain and hypesthesia distributed in the right C2–C4 dermatome regions appeared. MRI revealed a new oval lesion with gadolinium enhancement in the right dorsal region of the cervical spinal cord at the vertebral height of C1, which was thought to involve the posterior column and lower part of the spinal tract nucleus of the trigeminal nerve. There was no optic nerve, brain, or other spinal cord lesions that suggested demyelination on MRI. A titer of serum anti-aquaporin-4 antibody was negative, but anti-myelin oligodendrocyte glycoprotein (MOG) antibody was found to be positive. The symptoms were relieved by corticosteroid treatment. Our report presents a rare case of anti-MOG antibody-positive recurrent myelitis that developed only as localized short upper cervical spinal cord lesions, not meeting the diagnostic criteria for neuromyelitis optica spectrum disorders.