The present review focuses an early history of Japanese amyotrophic lateral sclerosis (ALS)-related diseases and the current development. In relation to foreign previous reports, five topics are introduced and discussed on ALS with dementia, ALS/Parkinsonism dementia complex (ALS/PDC), familial ALS (FALS), spinal bulbar muscular atrophy (SBMA), and multisystem involvement especially in cerebellar system of ALS including ALS/SCA (spinocerebellar ataxia) crossroad mutation Asidan. This review found the great contribution of Japanese reports on the above five topics, and confirmed the great development of ALS-related diseases over the past 120 years.
The patient was a 58-year-old man, who was hospitalized with progressive bilateral leg weakness, and sensory impairment in all four extremities. Chronic inflammatory demyelinating polyneuropathy (CIDP) was suspected based on an electrophysiological examination, and intravenous immunoglobulin therapy (IVIg) was initiated. However, his symptoms progressed. The serum and cerebrospinal fluid were positive for human T-lymphotropic virus type 1 (HTLV-1) antibodies; hence the patient was diagnosed as having HTLV-1 associated neuropathy. After administration of corticosteroid, muscle strength markedly improved. Thus, our findings suggest that rather than IVIg, corticosteroid therapy is recommended for the treatment of CIDP like neuropathy in HTLV-1 infected patients.
We report a forty-six-year-old man with a past history of brain abscess managed by surgical drainage and recurrent ischemic strokes. After treatment of brain abscess, he had been on medication for symptomatic epilepsy, but had ceased medication by his judgment. He was taken to a hospital in an ambulance for an epileptic seizure. In the hospital he suffered from drug-induced renal dysfunction caused by the intravenous anti-epileptic drug, and right hemiparesis due to ischemic stroke occurred on the third hospitalization day. He was transferred to our hospital to get a treatment for renal failure. His renal function improved gradually by hemodialysis, but an ischemic stroke recurred in the right cerebellar hemisphere. Closer examinations on the mechanisms of his strokes revealed the draining of right superior vena cava (RSVC) directly into the left atrium (LA), persistent left superior vena cava (PLSVC) and atrial septal defect (ASD). He had a rare anomaly of the systemic venous return. It seemed that his repeated strokes were caused by paradoxical embolism through the draining of RSVC to LA, and air or thrombi in the infusion lines other than intravenous thrombi was thought to be an embolic cause in this case.
A 32-year-old man with a 16-year history of recurrent primary stabbing headache was admitted to our hospital, owing to mumps meningitis. On day 2 of admission, he began experiencing episodes of unbearable intermittent stabbing pain, each lasting few seconds, with conjunctival injection and tearing, on the temporal side of the left orbit. We suspected trigeminal autonomic cephalgias, and administered non-steroidal anti-inflammatory drugs (NSAIDs), oxygen, and sumatriptan; however, the pain episodes persisted. Subsequently, after the start of intravenous lidocaine administration, the pain episodes stopped. We diagnosed a short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT), triggered by mumps meningitis. This is a valuable case report, involving a patient with a history of primary stabbing headache who was diagnosed with SUNCT triggered by mumps meningitis.
A 14-year-old girl developed transient disturbance of consciousness, dysarthria, and clumsiness of the right upper limb 4 months after herpes zoster ophthalmicus. Brain MRI showed acute cerebral infarction in the left middle cerebral artery (MCA) territory. CT angiography demonstrated mild stenosis in the top of the left internal carotid artery and the proximal side of the MCA. Cerebrospinal fluid (CSF) examination showed slightly mononuclear pleocytosis (6/μl). Titer of the anti-varicella zoster virus (VZV) IgG antibodies in CSF was increased, and gadolinium-enhanced brain MRI (T1-weighted imaging) revealed enhancement of the vessel walls at the stenotic lesions. Based on the diagnosis of VZV vasculopathy, methylprednisolone and valacicrovir were administered, followed by acyclovir, in addition to antithrombotic therapy using aspirin and warfarin. After these treatment, her right upper clumsiness was resolved and gadolinium-enhancement of the vessel walls was disappeared on MRI. VZV vasculopathy may cause ischemic stroke in young patients, especially in children. A careful history-taking about herpes is necessary to detect the disease as a potential cause in young stroke patients.
A 69-year-old woman with a previous history of migraine without aura developed throbbing headache in the right frontal region accompanied by nausea, lasting more than 4 hours a day. The headache intensity was more severe than that of usual her migraine headaches. Administration of eletriptan in the previous hospital improved her headaches. However, one month later the patient experienced more intense headaches in the same region and then was referred to our hospital. MR angiography showed abnormal signal intensities in the cavernous sinus. Cerebral angiography revealed blood reflux to the cavernous sinus, leading to diagnosis of cavernous sinus dural arteriovenous fistula. Transvenous embolization of cavernous sinus dural arteriovenous fistula was performed, which resulted in resolution of the patient’s headache. We should be aware that patients with cavernous sinus dural arteriovenous fistula can manifest migraine-like headaches without being accompanied by cranial nerve palsies.
75 years old woman presented with 6-month history of progressive dropped head syndrome. Neurological examination revealed moderate weakness of flexor and extensor of neck and mild weakness of proximal appendicular muscles with normal deep tendon reflexes. The needle electromyography showed short duration and low amplitude motor unit potential. No fibrillation potentials or positive sharp waves were seen. Biopsy of deltoid muscle was normal. Laboratory studies showed elevated levels of serum calcium (11.8 mg/dl, upper limit of normal 10.1) and intact parathyroid hormone (104 pg/ml, upper limit of normal 65), and decreased level of serum phosphorus (2.3 mg/dl, lower limit of normal 2.7). Ultrasonography and enhanced computed tomography revealed a parathyroid tumor. The tumor was removed surgically. Pathological examination proved tumor to be parathyroid adenoma. Dropped head and weakness of muscles were dramatically improved within a week after the operation. Although hyperparathyroidism is a rare cause of dropped head syndrome, neurologists must recognize hyperparathyroidism as a treatable cause of dropped head syndrome.
A 51-year-old woman presented with progressive weakness of the neck extensor muscles and gait disturbances since the past 6 years. In addition, she presented with symptoms such as dysarthria, dysphagia, bladder, and rectal disturbances. Bilateral plantar reflex was positive. Her gait was short-stepped-spastic. Brain and cervical MRI showed atrophy of the medulla and spinal cord. As these imaging features were suggestive of Alexander disease (AxD), we sequenced the GFAP gene. We identified a heterozygous c.368T>C missense mutation of the GFAP gene in the patient. This was the first case of the mutation in Japanese patients, and subsequently, she was diagnosed with AxD type 2. There are a few studies which reported that patients with AxD complained of dropped head syndrome. Dropped head syndrome can be the initial manifestation of AxD.
Cerebrospinal fluid leakage can develop due to traffic trauma or lumbar puncture; however, in many cases, it develops spontaneously without any obvious cause. This report describes a case of cerebrospinal fluid leakage caused by bowling activity. A 57-year-old woman adjusted her bowling form, which led to the development of an orthostatic headache and double vision. Cerebrospinal fluid leakage and right abducens nerve palsy was diagnosed, which was resistant to conservative treatment. An epidural blood patch was performed, leading to an improvement in the headache and abducens nerve palsy. The hypotension and nerve palsy may have been caused by small amounts of cerebrospinal fluid leakage due to repeated traction of the brachial plexus and nerve root resulting from an irregular bowling form. To the best of our knowledge, there are no reported cases of cerebrospinal fluid leakage caused by bowling; therefore, this is a valuable case to investigate the mechanism of onset. Similar mechanisms may have remained undiscovered in other cases of spontaneous intracranial hypotension.