Diffuse idiopathic skeletal hyperostosis (DISH) is a non-inflammatory process characterized by hyperostosis at tendon insertions and around joint capsules and ossification of the anterior longitudinal ligament of the spine. The flexibility of the spinal column is reduced in DISH and affects the movement of the thorax, leading to restrictive ventilatory function. In this report, we describe the first two cases of severe type 2 (hypercapnic) respiratory failure associated with DISH. Two older men presented with histories of shortness of breath. Radiography of the spine revealed DISH with coexisting ankylosis of the costovertebral joints. The patients' thoracic motion was severely restricted, reducing the mechanism of lung expansion to diaphragm contraction only. Both patients required non-invasive positive-pressure ventilation therapy to cope with their conditions. Our report sheds light on the risk of potentially life-threatening respiratory manifestations of DISH among older adults.

•A Japanese family with primary familial brain calcification is described.•They presented with paroxysmal kinesigenic dyskinesia (PKD).•Exonic deletion of SLC20A2 was detected.•Heterozygous rare variants were also detected in SCN4A.•PKD is likely related to PFBC, but might be in part caused by SCN4A variants.

"Stroke mimics" mean diseases presenting with acute neurological impairments that are taken for stroke. Discriminating them is crucial to avoid improper treatment or delayed correct treatment. We describe a 48-year-old woman presenting with a sudden onset of scintillating scotoma and left-lower quadrantanopsia. Hyperacute cerebral infarction was suspected. However, brain magnetic resonance imaging (MRI) revealed a mass at the cortico-medullary junction in the right occipital lobe. We diagnosed her as metastatic melanoma. We suspected that neurological deficits can be attributed to seizure, and therefore introduced levetiracetam. She showed neurological improvement immediately. Our case demonstrated the importance of considering brain tumor as a differential diagnosis in patients presenting with acute-onset neurological deficits. In addition to appropriate treatment of tumor, the use of newer antiepileptic drugs resulted in good neurological prognosis in metastatic brain tumors.

Spontaneous intracranial hypotension (SIH) is an important cause of headache mainly associated with spinal cerebrospinal fluid leakage. We herein report the case of a 51-year-old man who developed SIH after swimming. Brain magnetic resonance imaging (MRI) showed a transient high-intensity lesion in the splenium of the corpus callosum (SCC), in addition to bilateral subdural hematomas (SDH) and pseudo-subarachnoid hemorrhage on brain computed tomography. The splenial lesion disappeared and SDH improved after an epidural blood patch. This case emphasizes that transient SCC lesions could coexist with SIH and that SIH should be considered in the differential diagnosis of SCC lesions.

Corticobasal degeneration (CBD) is a rare progressive neurodegenerative disorder characterized by asymmetric presentation of cerebral cortex signs, cortical sensory disturbance and extrapyramidal signs. Herein, we report a case of a 66-year-old Japanese woman who presented with apraxia of the right hand. She subsequently developed postural instability and cognitive impairments that rapidly worsened. One and a half years later, the patient was wheelchair-bound and severely demented. Brain magnetic resonance imaging revealed left dominant atrophy of the frontoparietal lobe. There was a hyperintense lesion in the deep white matter expanding toward the subcortical area on fluid-attenuated inversion recovery (FLAIR) images. In order to rule out the possibility of an intracranial tumor such as an astrocytoma or malignant lymphoma, we performed a brain biopsy of the left frontal middle gyrus. The patient became bedridden and showed akinetic mutism 1 year after biopsy. Pathological examination revealed a large amount of 4-repeat tau-immunoreactive neuropil threads scattered predominantly in the corticomedullary junction and tau-immunoreactive structures, consistent with CBD. Immunostaining for p53 showed no positive cells, and there were very few Ki-67-positive cells. On immunoblots of sarkosyl-insoluble brain extracts, a major doublet of 64 and 68 kDa full-length tau with two closely related fragments of approximately 37 kDa were detected. Based on these results, the patient was pathologically diagnosed as having CBD, excluding the possibility of tumor. Taken together with previous similar case reports, our findings indicate that a deep white matter hyperintense lesion on FLAIR images may be a useful clue to CBD, predicting rapid clinical progression with severe dementia based on severe white matter degeneration with a large amount of tau accumulation on pathological examination.

A 60-year-old woman previously diagnosed as Sjogren syndrome (SjS) presented with a three-year history of progressive muscle weakness in the neck and predominantly proximal part of the four limbs. Pathological study showed patchy, dot-like p62 aggregates in muscle fibers in combination with increased HLA-ABC and -DR expression, which is pathologically consistent with sporadic inclusion body myositis (sIBM). Oral prednisolone improved muscle strength. Three years after the initiation of treatment, the patient still can walk. Myositis in our patient, albeit pathologically characterized by features of sIBM, responded well to prednisolone.

An 80-year-old woman presented with loss of appetite. At age 78, she was diagnosed as familial neuronal intranuclear inclusion disease (NIID) based on (i) leukoencephalopathy with hyperintensities along the corticomedullary junction on diffusion-weighted imaging (DWI) revealed by brain magnetic resonance imaging (MRI), (ii) skin biopsy samples showing ubiquitin-positive intranuclear inclusions in adipocytes, and (iii) family history. Her cognitive function was preserved while apathy was apparent. However, on this admission, her cognitive function got worse. Afterward, the patient developed subcortical hemorrhage, and the risk for the hemorrhage was not identified. NIID might be associated with intracranial hemorrhage. In addition, brain MRI after the bleeding showed the rapid expansion of hyperintense lesions on DWI even in the frontal lobe where bleeding was irrelevant. Intracranial hemorrhage might have affected the enlarged hyperintense lesions.

We present a case of communicating hydrocephalus associated with neurosarcoidosis in which the patient was diagnosed by endoscopic biopsy and successfully treated with corticosteroid therapy. The patient was a 53‐year‐old woman who presented with vertigo and nausea. Brain MRI revealed hydrocephalus and contrast‐enhancing areas only on the interthalamic adhesion. Sarcoidosis was suspected based on hilar lymphadenopathy and her past history of uveitis; however, there was no other organ involvement appropriate for biopsy. We performed endoscopic third ventriculocisternostomy and performed biopsy of nodular lesions of the interthalamic adhesion. Interestingly, endoscopy revealed numerous lesions on ventricular walls, which were not detected on contrast‐enhanced MRI. The histopathological examination revealed findings consistent with sarcoidosis. The patient was started on corticosteroid therapy, and her hydrocephalus improved conspicuously. Our case reinforces the notion that endoscopic biopsy is helpful in the definite diagnosis of neurosarcoidosis.

A 26-year-old lady presented with a rapidly progressive burning pain in both feet. She had been bothered by bloating after wheat-containing foods since the age of 21. Her gastrointestinal symptoms alleviated after introducing gluten-free diet. On admission, neurological examination was unremarkable without dysesthesia with normal nerve conduction studies. Skin biopsy specimen showed decreased intraepidermal nerve fiber density, indicating small-fiber neuropathy. Besides, clinical symptoms, duodenal biopsy, and positive HLA-DQ2 and -DQ8 suggested celiac disease, which might be associated with small-fiber neuropathy. Intravenous immunoglobulin was not efficacious. Celiac disease should be considered in the evaluation of peripheral neuropathy.

Tumefactive demyelinating lesions (TDLs) are rare in multiple sclerosis (MS). We herein report a case of tumefactive MS which initially presented with brainstem encephalitis with a long-term follow-up. The patient had experienced relapse mostly in the brainstem in the first twenty years, and then in the periventricular white matter afterwards. The patient responded well to steroid treatment recovered without sequalae. However, immunodeficiency due to the long-term use of oral prednisolone made aggressive therapy during the relapse impossible, so recovery after steroid therapy is incomplete. Our case is different from classical MS in clinical course and response to treatment. Our report offers rare information on long-term outcome of tumefactive MS.

Segmental zoster paresis is an uncommon complication of herpes zoster, and abdominal wall pseudohernia is rare. Previous reports have emphasized the involvement of anterior rami of spinal nerves, while the involvement of posterior rami has been less frequently reported. We aimed to elucidate the involvement of posterior rami of spinal nerves in abdominal wall pseudohernia. Four patients with a diagnosis of abdominal wall pseudohernia underwent needle electromyography (nEMG) and magnetic resonance imaging (MRI). In three patients, nEMG of affected paraspinal muscles showed denervation potentials, and MRI showed hyperintensity of these muscles on short T1 inversion recovery imaging. These results suggested involvement of paraspinal muscles, and indicated that posterior rami of spinal nerves are also often affected in abdominal wall pseudohernia. MRI as well as nEMG could be useful for evaluating paraspinal muscle involvement and for the diagnosis.

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder with a feature of repeated focal pressure neuropathies. The first symptomatic episode usually occurs in the second or third decade of life. We here report a case of 88-year-old patient who had recurrent episodes of foot drop since she was 68 years old. Elderly-onset HNPP is a rare condition that may be misdiagnosed as stroke. Physicians should consider HNPP when seeing repeat entrapment neuropathies regardless of patient's age.

Systemic lupus erythematosus (SLE) is a multisystem disorder, which occurs mostly in young women. However, late‐onset SLE does exist and sometimes presents with an atypical, diversified course. We describe an 85‐year‐old woman who was admitted to our hospital for lower extremity edema and hand grip weakness. Chest computed tomography scan 4 days after admission demonstrated rapid accumulation of pleural and pericardial effusions, which did not exist on admission. She was diagnosed with pleuritis and pericarditis associated with very‐late‐onset SLE. Methylprednisolone pulse therapy resulted in a drastic improvement in serositis. Our case exemplifies the fact that patients with late‐onset SLE sometimes follow an atypical course, which makes the clinical diagnosis difficult.

症例は39歳，男性．亜急性に進行する下肢筋力低下で入院した．末梢神経障害を認め，ステロイドで改善したが，減量開始から1年で症状が再燃した．再入院時の胸部単純CT（computed tomography）にて乳腺腫大を認め，女性化乳房がPOEMS（polyneuropathy，organomegaly，endocrinopathy，M-protein, skin changes）症候群（Crow-Fukase症候群）を疑う契機となり，血管内皮増殖因子（vascular endothelial growth factor：VEGF）の高値や骨硬化性病変等から診断に至った．胸腹水や浮腫はなく，M蛋白は陰性であった．骨病変に対する放射線治療のみで良好な経過を得た．本例は女性化乳房の検出に胸部CTが有用であった．

Background: Antibodies associated with cerebellar ataxia (CA) have been documented recently. Response to immunotherapy among autoimmune CA patients with these antibodies such as anti-glutamate decarboxylase (GAD) antibodies, anti-gliadin antibodies, and anti-thyroid antibodies has been reported. However, even seronegative patients might possibly have unknown antibodies and respond to immunosuppressant.

Background: Restless genital syndrome (RGS) refers to an uncommon experience of excessive and persistent unpleasant genital sensation, and often associated with restless legs syndrome (RLS). There is no consensus on the treatment for RGS. Besides, non-ergoline dopamine agonists are recommended as pharmacologic therapy for patients with chronic persistent RLS.

A 77‐year‐old man presented with left basal ganglia hematoma. Magnetic resonance angiography showed severe stenosis of the left middle cerebral artery (MCA), which had already been detected 7 years earlier. He had been free of symptoms caused by the stenosis. The hematoma was found to be caused by a rupture of a medial striate artery aneurysm. We suspected that this aneurysm formation was associated with the MCA stenosis, and that the underlying mechanism of MCA stenosis was similar to that of moyamoya disease. A genetic analysis of a variant in RING finger protein 213, a susceptibility gene for moyamoya disease, was negative, but other variants might be responsible for the MCA stenosis.

Background: Amyotrophic lateral sclerosis (ALS) is a common adult-onset neurodegenerative disease of unknown etiology and there is no useful diagnostic biomarker. Several reports indicated the levels of the creatine kinase (CK) and uric acid (UA) seem to be an independent variables of progression in ALS.

Minifascicular neuropathy (MN) is an extremely rare developmental malformation in which peripheral nerves are composed of many small fascicles. Only one patient with MN with 46XY gonadal dysgenesis (GD) was found to carry a mutation affecting the start codon in desert hedgehog (DHH). We identified an identical novel rearrangement mutation of DHH in two consanguineous families with MN, confirming mutations in DHH cause MN with 46XY GD. The patients with the 46XY karyotype developed GD, whereas a patient with the 46XX karyotype did not. These findings further support that DHH has important roles in perineural formation and male gonadal differentiation.

A 78-year-old woman with a history of bronchial asthma presented with distal dominant sensory disturbance and weakness in the upper and lower extremities. A biopsy of the left peroneus brevis muscle showed active vasculitis with inflammation extending into muscle fascicles and fibrinoid necrosis of the vessel wall, consistent with eosinophilic granulomatosis with polyangiitis (EGPA). Despite her decreased serum osmolarity, her serum antidiuretic hormone level was not reduced, consistent with the syndrome of inappropriate antidiuretic hormone (SIADH). Intravenous and oral steroid therapy improved her neurological symptoms. Clinicians should consider EGPA as a concurrent, and potentially causative, disorder in cases of SIADH.