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A 66-year-old woman was diagnosed with stage IVb sigmoid colon cancer. Modified FOLFOX-6 (mFOLFOX-6; levofolinate‒fluorouracil‒oxaliplatin) plus panitumumab was selected as the chemotherapeutic regimen, but she was administered a regimen without oxaliplatin (L-OHP) or bolus 5-fluorouracil (5-FU) because of her general condition and concern about adverse effects. The patient had impaired consciousness on day 3 of chemotherapy. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain showed no findings of hemorrhage, infarction, brain metastasis, and leukoencephalopathy. Except for high blood ammonia concentration (353 µg/dL), there were no other findings that could have caused her condition. Impaired consciousness due to hyperammonemia was diagnosed. We started an intravenous drip supplemented with branched chain amino acids for liver protection. Approximately 6 hours later, blood ammonia level improved to 88 µg/dL, which approached the reference value. Consciousness level improved over time, reaching a level of alertness on day 5 after starting chemotherapy. 5-FU was suspected to be the cause of impaired consciousness due to hyperammonemia, but the exact cause could not be identified because most of the previously reported cases were given L-OHP, bolus 5-FU, and other concomitant medications. In this case, since there were no other concomitant medications, it is highly probable that continuous infusion of 5-FU alone caused impaired consciousness due to hyperammonemia. This is an important case that indicates the need to monitor carefully for the occurrence of hyperammonemia when 5-FU is administered continuously; it also proposes future issues for investigation.

A 68-year-old woman was referred to our hospital for progressive dizziness, gait disturbances and weight loss for 18 months. The patient was alert and showed dysphagia and a marked tendency to fall backward. Electronystagmography showed bilateral vestibular dysfunction and audiometry showed right sensorineural hearing disturbance. Cerebrospinal fluid exam showed mononuclear pleocytosis and elevated protein levels. On 18F-FDG PET/CT, abnormal uptake was observed in the mediastinal lymph nodes, from which biopsy specimens were obtained. Histological findings showed non-caseous granuloma and a diagnosis of bilateral vestibulocochlear, glossopharyngeal and vagal nerve palsies due to neurosarcoidosis was made. Steroid therapy resulted in improvement in her clinical symptoms. Neurosarcoidosis should be included in the differential diagnosis of patients showing progressive easy falling and dysphagia.

Influenza encephalopathy is characterized by high fever, disturbance of consciousness following influenza virus infection. We encountered 2 adult patients with influenza-associated acute necrotizing encephalopathy (Case 1, a 70-year-old woman with diabetes; Case 2, a 49-year-old woman with multiple myeloma), showing hemorrhagic lesions in the bilateral thalamus. Case 1 presented with fever and disturbance of consciousness followed by status epilepticus, and Case 2 developed fever and drowsiness as initial manifestation. Influenza type A was positive in Case 1 and influenza type B was positive in Case 2. In the acute phase, 2 patients required respiratory ventilation and were treated with anti-influenza drug, steroid and immunoglobulin. Cognitive impairment remained in the both patients in the chronic phase. When acute necrotizing encephalopathy is suspected, intensive treatment should be started as early as possible to improve clinical outcome of patients.

Background Hypothalamic lesions, such as tumors and demyelinating diseases, reportedly cause abnormal sleepiness. However, stroke involving the hypothalamus has rarely been described. Here, we report a patient with infarction restricted to the hypothalamus who presented with sudden onset of sleep. Case presentation A 42-year-old woman with a history of migraine without aura presented with irresistible sleepiness and developed several episodes of sudden onset of sleep. Neurological examinations were unremarkable except for partial left Horner syndrome. Brain magnetic resonance imaging (MRI) revealed a high-intensity lesion restricted to the left hypothalamus on diffusion-weighted and fluid-attenuated inversion recovery MRI images. Cerebrospinal fluid (CSF) orexin-A levels obtained on hospital day 3 after her sleepiness had resolved were normal (337 pg/mL; normal > 200 pg/mL). Serum anti-nuclear and anti-aquaporin 4 (AQP4) antibodies and CSF myelin basic protein and oligoclonal band were negative. A small hypothalamic infarction was suspected, and the patient was treated with intravenous edaravone and argatroban, as well as oral clopidogrel. Three months later, there had been no clinical relapse, and the hypothalamic lesion had almost disappeared on follow-up MRI. No new lesion suggestive of demyelinating disease or tumor was observed. Conclusion Hypothalamic stroke should be considered a cause of sudden onset of sleep.

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 57-year-old man developed rapidly progressive dementia and a gait disturbance over 4 months. The patient had a slowly progressive executive dysfunction and speech problems for 4 years and was previously monitored in our outpatient clinic following a diagnosis of frontotemporal dementia. Diffusion-weighted MRI revealed high signal intensities in the right caudate nucleus and the bilateral cortices. Cerebrospinal fluid analysis showed increased levels of the 14-3-3 and total tau proteins. Periodic synchronous discharge was not evident on an electroencephalogram. Prion protein gene analysis identified a glutamate-to-lysine substitution at codon 219 (E219K) in the presence of the E200K mutation, leading to a genetic diagnosis of genetic Creutzfeldt-Jakob disease (CJD). The E219K polymorphism found on the allele of the E200K mutation may have influenced the characteristic clinical course of our patient that differed from that of typical E200K genetic CJD.

A 57-year-old woman had been suffered from insomnia due to restlessness and abnormal sensation of the left side of the body for 33 years. Since the preceding year of the first visit frequency of the symptoms increased, and the abnormal sensation was spread to the right leg. Her daughter had restless legs syndrome (RLS) since age 20. Neurological examination showed no abnormality. Laboratory test results showed normal ferritin levels. There was no renal dysfunction or anemia. A diagnosis of RLS was made, and her symptoms responded well to pramipexole treatment. However, the patient developed right shoulder pain and right-hand tremor one year and one and a half year after the first visit, respectively. Based on clinical findings and the findings of dopamine transporter scan and cardiac 123I-MIBG scintigraphy, the patient was diagnosed with Parkinson's disease (PD). Careful observation of changes in RLS symptoms is required as an increased frequency and spread of symptoms of RLS could be the early manifestation of PD.

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.

In posterior reversible encephalopathy syndrome, isolated involvement of the brainstem is rare. In addition, there have been a few reports describing a concomitant occurrence of stroke and a brainstem variant of posterior reversible encephalopathy syndrome. We here report a patient with isolated pontine involvement of posterior reversible encephalopathy syndrome accompanied by fresh ischemic cerebral infarction in the left corona radiata detected by brain magnetic resonance imaging. Follow-up brain magnetic resonance imaging on hospital day 14 showed a marked improvement of signal changes in the pons; however, cerebral infarction in the left corona radiata enlarged despite medical treatment. Although rare, clinicians should be aware of the co-occurrence of posterior reversible encephalopathy syndrome and ischemic infarctions, especially in patients with untreated/uncontrolled hypertension and chronic kidney disease. We discuss the possible mechanism related to brainstem posterior reversible encephalopathy syndrome and stroke, reviewing the previous case reports.

A 26-year-old, otherwise healthy man presented with visual abnormality followed by loss of consciousness and convulsion. The patient then developed headache and fever 14 days later. Brain MRI showed hyperintensities in the left cingulate cortex. The cerrebrospinal fluid examinations showed mononuclear pleocytosis and positive PCR results for human herpesvirus 6 (HHV-6). A diagnosis of HHV-6 encephalitis and symptomatic epilepsy was made. The patient's clinical symptoms improved promptly following acyclovir treatment. However, 3 months later the patient noticed dysesthesia in the trunk, the left upper limb and the right lower limb. Brain and spine MRI showed multiple brain white matter lesions, the middle cerebellar peduncle and cervical spinal lesions. The symptoms resolved following methylprednisolone pulse therapy only. We report an adult patient with HHV-6 encephalitis followed by acute disseminated encephalomyelitis whose initial presentation was epilepsy. HHV-6 encephalitis should be included in the differential diagnosis of encephalitis of unknown etiology in an immunocompetent adult.

•We report 2 patients with pontine infarcts showing transient conjugate eye deviation.•Conjugate eye deviation resolved within a few days in both patients.•Small restricted dorsomedial pontine lesions can produce conjugate eye deviation.

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.

A 74-year-old man was referred to our department for dizziness and progressive unsteady gait over 6 years. His family history was unremarkable. Neurological examination showed dysarthria, saccadic eye movement, palatal tremor (1.7 Hz)-synchronous with rotational ocular movement, and truncal ataxia. T2-weighted magnetic resonance imaging (MRI) of the brain revealed hyperintense and hypertrophic bilateral inferior olivary nuclei at the medulla and mild cerebellar atrophy. On the basis of neurological findings of oculopalatal tremor and cerebellar ataxia with brain MRI findings, the diagnosis of progressive ataxia and palatal tremor (PAPT) was made. PAPT should be included in differential diagnosis of dizziness observed in elderly individuals.

We have previously described the mid- to long-term results of conventional simple varus intertrochanteric osteotomy for osteonecrosis of the femoral head, showing that 19 of the 26 hips had good or excellent results. We extended the follow-up to a mean of 18.1 years (10.5 to 26) including a total of 34 hips in 28 patients, with a mean age at surgery of 33 years (19 to 53). There were 18 men and ten women and 25 hips (74%) had a satisfactory result with a Harris hip score ≥ 80. In all, six hips needed total hip replacement (THR) or hemiarthroplasty. The collapse of the femoral head or narrowing of the joint space was found to have progressed in nine hips (26%). Leg shortening after osteotomy was a mean of 19 mm (8 to 36). With conversion to THR or hemiarthroplasty as the endpoint, the ten-year survival rate was 88.2% (95% confidence interval (CI) 82.7 to 93.7) and the 20-year survival rate was 79.7% (95% CI 72.1 to 87.3); four hips were converted at ten years and other two hips were converted at 20 years.Shortening of the leg after osteotomy remains a concern; however, the conventional varus half-wedge osteotomy provides favourable long-term results in hips with less than two-thirds of the medial part of the femoral head affected by necrotic bone and with normal bone superolaterally.

Author, A 4-U hybrid total hip arthroplasty (THA) system was specifically designed for patients with developmental dysplasia of the hip (DDH). Straight stem with an appropriate offset and various size variations are advantages. We followed 128 hips in 124 patients, 13 men and 111 women, for a mean of 6.5years (range, 5.0-7.5years). Two acetabular and femoral components in two patients had been revised for infection, one acetabular component had been revised for recurrent dislocation, and one femoral component had been revised for periprosthetic femoral fracture. None of the acetabular or femoral components were revised for loosening or were found to be loose at follow-up. The Harris hip score increased from a preoperative average of 42 points to 88 points at the most recent follow-up. Primary THA using the 4-U system had a good mid-term result in patients with DDH. This system could be applied for all patients including those with the narrowest and deformed femurs

© 2011 British Editorial Society of Bone and Joint Surgery, We report the mid- to long-term (mean 20.3 years, 10 to 32.5) results of the Chiari pelvic osteotomy in patients with pre- to advanced stage osteoarthritis in dysplastic hips. We followed 163 Japanese patients (173 hips) with a mean age at surgery of 20 years (9 to 54). Overall, 124 hips (72%) had satisfactory results, with Harris hip scores ≥ 80. Satisfactory results were seen in 105 of 134 hips with pre- or early osteoarthritis (78%) and 19 of 39 hips with advanced osteoarthritis (49%). A total of 15 hips (9%) underwent a total hip replacement (THR) with a mean interval between osteotomy and THR of 16.4 years. With conversion to THR as the endpoint, the 30-year survival rate was 85.9% (95% confidence interval 82.3 to 89.5). It was 91.8% for patients with pre- or early osteoarthritis and 43.6% for those with advanced osteoarthritis (p < 0.001). We now perform the Chiari osteotomy for patients with dysplastic hips showing poor joint congruency and who prefer a joint-conserving procedure to THR.

http://dx.doi.org/10.1016/j.arth.2010.02.014, We evaluated intermediate-term to long-term survival of cemented calcar replacement femoral components in hybrid revision total hip arthroplasty. We followed up 52 hips in 50 patients for a mean of 11.4 years. Six (12%) femoral components had been revised: 2 for aseptic loosening, 2 for periprosthetic fracture, and 2 for deep infection. One additional femoral component was definitely loose. The number of previous revision operations (P = .004), preoperatively poorer femoral bone stock (P = .005), and postoperative poor cement mantle grading (P = .003) were significant factors for failure. Kaplan-Meier analysis revealed that the 15-year survival rate was 90% with mechanical failure as the end point. This technique remains a reasonable option for the first-time revision, especially for older and less active patients.

Perfluorooctanoic acid (PFOA) is a ligand for peroxisome proliferator-activated receptor (PPAR) alpha, which exhibits marked species differences in expression and function, especially between rodents and humans. We investigated the functional difference in PFOA response between mice and humans, using a humanized PPARalpha transgenic mouse line. Three genotyped mice, 129/Sv wild-type (mPPARalpha), Pparalpha-null mice and humanized PPARalpha (hPPARalpha) mice (8-week-old males) were divided into three groups: the first was treated with water daily for 2 weeks by gavage (control group), and the remaining two groups were treated with 0.1 and 0.3mg/kg ammonium perflurooctanate (APFO), respectively, for 2 weeks by gavage. The APFO dosages used did not influence the plasma triglyceride or total cholesterol levels in any mouse line, but the high dose increased both hepatic lipid levels only in mPPARalpha mice. APFO increased mRNA and/or protein levels of PPARalpha target genes cytochrome P450 Cyp4a10, peroxisomal thiolase and bifunctional protein only in the liver of mPPARalpha mice, but not in Pparalpha-null or hPPARalpha mice. This chemical also increased expression of mitochondrial very long chain acyl-CoA dehydrogenase only in the liver of mPPARalpha mice. Taken together, human PPARalpha may be less responsive to PFOA than that of mice when a relatively low dose is applied. This information may be very valuable in considering whether PFOA influences the lipid metabolism in humans.

Background Meningeal carcinomatosis and hypercoagulability associated with malignancy are typical late stage complications in cancer patients. The co-occurrence of meningeal carcinomatosis and cerebral infarction related to hypercoagulability associated with malignancy in an individual as the initial manifestation of malignancy has not been previously reported. Case presentation Herein, we report the case of an 80-year-old patient who presented with meningeal carcinomatosis and hypercoagulability related to malignancy as the initial manifestation of occult gastric cancer. The patient displayed consciousness disturbance, mild left facial paralysis, and bilateral positive Babinski’s sign. Using brain magnetic resonance imaging, the patient was diagnosed as having acute multiple cerebral infarctions. Cerebrospinal fluid (CSF) cytology showed adenocarcinoma and upper gastrointestinal endoscopy disclosed scirrhous gastric cancer. The patient presented with headache, fever, and meningeal irritation with a subacute course. Tuberculous or fungal meningitis was initially suspected; however, cytological evidence of adenocarcinoma in the CSF led to the diagnosis of meningeal carcinomatosis. Conclusion The comorbidity of hypercoagulability associated with malignancy and meningeal carcinomatosis should be considered in a patient presenting with multiple cerebral infarctions, progressive disturbance of consciousness, fever, and meningeal irritation.

A 31-year-old man with pontine infarction was referred to our hospital for further evaluation and treatment. At admission, his neurological examination was unremarkable. No lymphadenopathy or skin lesions were found. The Treponema pallidum haemagglutination test, rapid plasma regain test and fluorescent treponemal antibody absorption test of immunoglobulin G were positive in both serum and cerebrospinal fluid (CSF). CSF analysis showed lymphocytic pleocytosis. The patient had male-to-male sexual contact and was found to be HIV positive. Physicians should be aware that acute ischaemic stroke may be the first manifestation of neurosyphilis in a young adult, especially with HIV infection.

Acute hemicerebellitis, marked by headache with or without cerebellar signs, is a rare clinical entity involving a unilateral cerebellar hemisphere. The pathogenesis of acute hemicerebellitis remains unclear, and the disease rarely occurs in adults. Here, we report an 18-year-old woman who presented with a lack of coordination of the right hand and leg lasting longer than one week, following a pulsatile headache. A neurological examination disclosed ocular dysmetria, right-sided limb ataxia and slight truncal ataxia. Cerebrospinal fluid analysis showed mononuclear pleocytosis. The serology and autoimmune studies were unremarkable. Brain magnetic resonance imaging (MRI) revealed a focal signal change in the right cerebellar hemisphere and vermis. Acute hemicerebellitis was diagnosed, and the patient was treated with intravenous methylprednisolone sodium succinate and acyclovir. Subsequently, the headache resolved, and the cerebellar signs were markedly improved. Twenty days after admission, she became asymptomatic and brain MRI showed resolution of cerebellar hyperintensity on the right side. In conclusion, we identified only 6 additional patients with adult-onset acute hemicerebellitis from previous reports, highlighting the importance of recognizing this rare clinical entity. Its clinical outcome is usually favorable, but in the acute phase, attention should be directed toward clinical symptoms that are suggestive of increased intracranial pressure.

Background Kikuchi Fujimoto disease (KFD), or histiocytic necrotising lymphadenitis, is a benign and self-limiting condition characterised by primarily affecting the cervical lymph nodes. Recurrent aseptic meningitis in association with KFD is extremely rare and remains a diagnostic challenge. Case presentation We report a 28-year-old man who presented 7 episodes of aseptic meningitis associated with KFD over the course of 7 years. Histopathological findings of enlarged lymph nodes led to the diagnosis of KFD. The patient’s headache and lymphadenopathy spontaneously resolved without any sequelae. Conclusions A diagnosis of KFD should be considered when enlarged cervical lymph nodes are observed in patients with recurrent aseptic meningitis. A long-term prognosis remains uncertain, and careful follow-up is preferred.

A 56-year-old woman had been experiencing episodic left eye pain followed within 3 days by double vision and adduction of the left eye since the age of 30. The episodes occurred once per month, and her symptoms spontaneously resolved within 3 days. The patient was diagnosed with ophthalmoplegic migraine (OM) with left abducens nerve palsy at the age of 53 years. In May 2011, she developed bilateral retro-orbital pain followed by double vision and limitation of abduction of the right eye. She recalled having a cold and high fever 10 days before the onset of the headache. MRI showed no thickening or enhancement of the right abducens nerve. Constructive interference in steady-state (CISS) MRI showed neurovascular contact between the right abducens nerve and anterior inferior cerebellar artery. Right abducens nerve palsy accompanied by OM was diagnosed after other diseases that can cause ophthalmoplegia were excluded. The patient's eye symptoms gradually improved following steroid treatment. There have been a few similar case reports of adult patients with OM showing left and right abducens nerve palsy at different time points. In this case report, we discuss the possible mechanisms related to OM.

A 66-year-old man was admitted to our hospital with muscle pain, fatigue and appetite loss that had lasted for a month. The patient was somnolent and had nuchal stiffness with a high fever. Cerebrospinal fluid (CSF) tests demonstrated lymphocytic pleocytosis with a decreased CSF-blood glucose ratio. The tests for tuberculous, fungal and carcinomatous meningitis and herpetic meningoencephalitis were negative. Endocrinological exams showed hypopituitarism and diabetes insipidus. A pituitary MRI showed an enlargement of the pituitary stalk. A diagnosis of lymphocytic hypophysitis with aseptic meningitis was made after the exclusion of secondary hypophysitis. Lymphocytic hypophysitis with aseptic meningitis can mimic subacute meningoencephalitis.

A 24-year-old woman presented subdural empyema developing from sinusitis caused by Porphyromonas and Fusobacterium infection. She experienced fever and progressive headache with gradually worsening symptoms. Neurological examination revealed drowsiness and neck stiffness. A CSF examination detected pleocytosis and a low glucose level. Gadolinium-enhanced T1-weighted images from brain MRI showed thickening enhancement at the leptomeninges in the left frontal to temporal lobes and interhemispheric fissure with edema. Based on the diagnosis of bacterial meningoencephalitis and subdural empyema developing from sinusitis primary to odontogenic infection, she received antibacterial chemotherapy with meropenem hydrate and vancomycin hydrochloride, after which motor aphasia and consciousness disturbance occurred. No bacteria were isolated from a trans-sphenoidal biopsy specimen and CSF culture. Molecular typing also was performed by sequencing the 16S ribosomal RNA intergenic spacer region, and Porphyromonas and Fusobacterium were identified. She was given cephalosporin and metronidazol, after which her neurological symptoms and signs gradually lessened. Physicians need to be aware that patients may develop subdural empyema subsequent to sinusitis associated with Porphyromonas and Fusobacterium infection and that amplification and sequence analysis of partial bacterial 16S ribosomal RNA gene should be examined when no bacteria is identified by culture.

Task-specific dystonia (TSD) is a disabling movement disorder characterized by focal, involuntary, and excessive muscle contractions that develop in a single body part involved in highly skilled tasks [1]. In TSD, involvement of the hand (while writing, typing, or playing a musical instrument) is more common than the involvement of other parts of the body, but TSD related to the use of a computer mouse has never been described. A 68-year-old right-handed man presented to our outpatient clinic with involuntary flexion of his right thumb, which interfered with the use of a computer mouse. When the patient was 62 years old, he started composing music using a computer. Since then, he had used the computer mouse with his right hand for composition for approximately 5 h per day. At age 64, he developed abnormal flexion of his right thumb whenever he used the computer mouse; the flexion interfered with moving the mouse, but he could click the mouse button without any trouble. During the following year, abnormal flexion in the right thumb was observed even when the patient put his right hand on the table, and he had difficulty in extending and flexing his right thumb voluntarily. This forced him to use the computer mouse with his left hand instead. He had no symptoms in other parts of the body. The patient had played classical guitar since childhood. He had no previous medical history of psychiatric disease or a family history of dystonia. The patient had no history of alcohol use or smoking. The initial examination showed excessive flexion of his right thumb, and voluntary flexion and extension of his right thumb was impaired. This abnormal posture significantly worsened when using the computer mouse (see video, segment 1). However, he noticed that right-thumb flexion never occurred while eating (using chopsticks, spoon, or knife) or writing with a pen. The abnormal flexion of his right thumb never occurred when his right thumb and index finger touched. A neurological examination was unremarkable except for the abnormal flexion position of his right thumb. Laboratory data were normal. The finding of brain magnetic resonance images was normal. TSD was diagnosed based on the observation that involuntary and excessive flexion posture was prominent in specific situations. Oral medications such as levodopa, carbamazepine, and phenytoin were ineffective. The patient was then treated with clonazepam 0.5 mg, which modestly improved his symptoms. The combined use of clonazepam 1 mg and trihexyphenidyl 6 mg resulted in significant improvement of his symptoms (see video, segment 2). We report the first case of a patient in whom excessive flexion of the right thumb occurred initially only when using the computer mouse. Similar to other TSD patients [1], our patient’s symptoms later involved other tasks. As the patient had dystonic posturing of the right hand at rest at the examination, the patient was classified as having complex TSD rather than simple TSD [2]. His finger movements were preserved when his right thumb and index Electronic supplementary material The online version of this article (doi:10.1007/s00415-012-6519-1) contains supplementary material, which is available to authorized users.

A 79-year-old woman who had diabetes mellitus for 22 years developed coma 1 day after influenza A virus infection. Diabetic ketoacidosis (DKA) was diagnosed based on high serum glucose levels (902 mg/dL), an arterial pH of 7.19 and large urine ketone (3 + ). Subsequently, the patient was treated with insulin and fluid therapy. After improvement in serum glucose levels, diffusion-weighted magnetic resonance imaging (MRI) showed acute infarction in the bilateral middle and posterior cerebral artery territories (Fig. 1). No severe stenosis in major cerebral arteries on magnetic resonance angiography was detected. Transthoracic and transesophageal echocardiography did not show any potential cardiac source of embolism including patent foramen ovale or thrombi in the left ventricle. In the present patient, brain lesions on MRI were located in the white matter, but not in cortices, suggesting microcirculatory impairment by hyperglycemia-induced hypercoagulability and/or hyperviscosity. DKA is associated with thrombotic risks, such as abnormalities in coagulation factors, platelet activation and blood volume, and cerebral edema as a result of DKA might predispose to stroke; however, DKA associated with stroke is rare in adults.

1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) elicits selective destruction of nigrostriatal dopamine neurons in human and non-human primates along with clinical symptoms of Parkinson’s disease (Langston et al., 1983; Burns et al., 1983). Systemically administered MPTP is biotransformed into 1-methyl-4-phenylpyridium ion (MPP+), which then enters dopaminergic neurons via the dopamine uptake system to destroy nigral cells.

The clinical features of 3 patients from a kindred with adrenoleukodystrophy and the analysis of their plasma sphingomyelin are described. Onset of symptoms was between the ages of 33 and 54 years. Ataxic gait and spasticity were the only symptoms noted during the early stage of the disorder. Dementia and optic atrophy were present in two of the cases. Baseline plasma cortisol was normal, but adrenocorticotropic hormone was elevated. Analysis of plasma sphingomyelin demonstrated an increase in very-long-chain (C24-C26) fatty acid. This study demonstrates that adrenoleukodystrophy may present with spinocerebellar symptoms.

Systemically administered 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) is biotransformed into 1-methyl-4-phenylpyridinium ion (MPP + ), which enters dopaminergic neurons via the dopamine uptake system to destroy nigral cells. Either MPP + is retrogradely transported to the cell body after being taken up at the nerve terminals, or the dopamine uptake sites on the cell body and its dendritic processes are responsible for the toxin directly entering the neuron. Using a 200 μl osmotic minipump, we administered 4 mg of MPTP HCl directly into the unilateral caudate nucleus, i.e., the dopamine nerve terminal area, of monkeys for 14 days. Persistent hemiparkinsonism began to appear in a week. Each monkey exhibited a flexed posture and hypokinesia of the contralateral limbs and circling toward the MPTP-treated side. These disturbances developed within 3 months and maintained a plateau for 3 months until the day of sacrifice. After treatment with apomorphine, there appeared a striking circling away from the MPTP-treated side. Selective cell loss in the MPTP-treated side of the substantia nigra pars compacta was found along the entire rostrocaudal extent relative to the untreated side. In conclusion, MPP + uptake only at the dopamine nerve terminals and retrograde axonal transport to the cell body seemed suffcient to destroy nigral dopamine cells in the monkey.