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The appropriate timing of treatment cessation after treat and extend (TAE) regimen for age-related macular degeneration has not been established. This study aimed to investigate the incidence and risk factors of recurrence after cessation of the TAE regimen. We included patients who received and discontinued the TAE regimen, after extension of the treatment interval to > 12 weeks. The total number of injections, treatment period, last treatment interval, and visual acuity at treatment cessation were investigated as predictive factors. Forty-nine patients were included in the study. The estimated recurrence rates were 33% at one year and 48% at two years after treatment cessation, respectively. Higher chances of recurrence were associated with < 0.1 logarithm of the minimum angle of resolution (logMAR) at cessation (P < 0.002) and < 12 number of injections (P = 0.026). Meanwhile, five patients with visual acuity ≥ 1.0 logMAR at cessation did not show recurrence. Among the 25 recurrences, two lines of vision loss were noted in only two cases after resumed treatment. This study confirmed the importance of the number of injections in reducing recurrence and the association between visual acuity and recurrence. Recurrence is generally well-controlled with resumed treatment.

Objective To characterize the CSF cytokine profile in chronic inflammatory demyelinating polyneuropathy (CIDP) patients with IgG4 anti‐neurofascin 155 (NF155) antibodies (NF155+ CIDP) or those lacking anti‐NF155 antibodies (NF155− CIDP). Methods Twenty‐eight CSF cytokines/chemokines/growth factors were measured by multiplexed fluorescent immunoassay in 35 patients with NF155+ CIDP, 36 with NF155− CIDP, and 28 with non‐inflammatory neurological disease (NIND). Results CSF CXCL8/IL‐8, IL‐13, TNF‐α, CCL11/eotaxin, CCL2/MCP‐1, and IFN‐γ were significantly higher, while IL‐1β, IL‐1ra, and G‐CSF were lower, in NF155+ CIDP than in NIND. Compared with NF155− CIDP, CXCL8/IL‐8 and IL‐13 were significantly higher, and IL‐1β, IL‐1ra, and IL‐6 were lower, in NF155+ CIDP. CXCL8/IL‐8, IL‐13, CCL11/eotaxin, CXCL10/IP‐10, CCL3/MIP‐1α, CCL4/MIP‐1β, and TNF‐α levels were positively correlated with markedly elevated CSF protein, while IL‐13, CCL11/eotaxin, and IL‐17 levels were positively correlated with increased CSF cell counts. IL‐13, CXCL8/IL‐8, CCL4/MIP‐1β, CCL3/MIP‐1α, and CCL5/RANTES were decreased by combined immunotherapies in nine NF155+ CIDP patients examined longitudinally. By contrast, NF155− CIDP had significantly increased IFN‐γ compared with NIND, and exhibited positive correlations of IFN‐γ, CXCL10/IP‐10, and CXCL8/IL‐8 with CSF protein. Canonical discriminant analysis of cytokines/chemokines revealed that NF155+ and NF155− CIDP were separable, and that IL‐4, IL‐10, and IL‐13 were the three most significant discriminators. Interpretation Intrathecal upregulation of type 2 helper T (Th2) cell cytokines is characteristic of IgG4 NF155+ CIDP, while type 1 helper T cell cytokines are increased in CIDP regardless of the presence or absence of anti‐NF155 antibodies, suggesting that overproduction of Th2 cell cytokines is unique to NF155+ CIDP.

Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by chronic thrombi in the pulmonary arteries, causing pulmonary hypertension and right heart failure. Early and accurate diagnosis are essential for successful treatment but are often difficult because clinical signs and symptoms can be nonspecific and risk factors, such as history of venous thromboembolism, may not always be present. Here, we report a case involving a 76-year-old woman who demonstrated paradoxical cerebral embolism as the initial manifestation of CTEPH. She developed right hemiplegia without dyspnea or edema. Brain magnetic resonance imaging revealed multiple fresh infarctions, while transesophageal echocardiography revealed a patent foramen ovale. Based on these findings, she was diagnosed as having paradoxical cerebral embolism. During the search for the embolic source, right heart catheterization showed significant pulmonary hypertension and pulmonary angiography revealed chronic thrombi in the peripheral pulmonary arteries, consistent with a diagnosis of CTEPH. To our knowledge, this is the first case of CTEPH to be diagnosed with the onset of paradoxical cerebral embolism. Because CTEPH is the only potentially curable form of pulmonary hypertension, clinicians should consider paradoxical cerebral embolism as a possible initial manifestation of CTEPH.

Objective: To investigate the timing of DOAC initiation to decrease mortality rate in the acute phase of cardioembolic stroke. Design: Retrospective observational study using a national administrative database. Setting: Japanese hospitals providing care to patients with cardioembolic stroke between April 1st, 2012 and March 31st, 2019 Participants: 24,179 patients with acute cardioembolic stroke who received a direct oral anticoagulant (DOAC) during hospitalization. Main Outcome Measures: The primary outcome was 90-day in-hospital mortality. Secondary outcomes were functional disability at discharge (modified Rankin Scale ≥3) and major bleeding. Patients were divided into four groups based on the interval between admission and DOAC initiation and, according to the “1-3-6-12 day” rule. The generalized estimated equation model adjusted with entropy balance weighting was used to compare the risk of outcomes. Subgroup analyses were performed by stratifying levels of consciousness on hospital admission. Results: The risk of 90-day in-hospital mortality did not vary between groups according to DOAC initiation timing. Initiation at day 3 or later was associated with an increased risk of functional disability at discharge (highest risk group: day 12-21 vs day 1-2, adjusted OR 2.99 [2.48-3.60]), and an increased risk of major bleeding (highest risk group: day 12-21 vs day 1-2, adjusted OR 2.66 [1.77-3.98]). In the subgroup analysis, patients with spontaneous arousal in whom DOAC initiation occurred at day 12 or later had an increased risk of 90-day in-hospital mortality (day 12-21 vs day 1-2, adjusted OR 1.58 [1.07-2.32]). Patients without spontaneous arousal in whom DOAC administration occurred at day 3 or later had a lower risk of 90-day in-hospital mortality (day 12-21 vs day 1-2, adjusted OR 0.57 [0.40-0.81]). Conclusions: In patients with acute cardioembolic stroke and spontaneous arousal, it may be safe and effective initiate DOAC within 2 days of hospitalization. Patients without spontaneous arousal may benefit from a delay in DOAC initiation to day 3 or later.

Midbrain infarction causing oculomotor nerve palsy with contralateral ataxia is named Claude's syndrome. Herein we report the case of a variant of Claude's syndrome, which shows pupil-sparing oculomotor nerve palsy without the accompanying neurological deficits other than subtle truncal ataxia. MRI and Diffusion Tensor Imaging revealed that midbrain infarction was located rostrally above the decussation of the superior cerebellar peduncle (SCP) and might have partially destructed the tectospinal tract, which resulted in the absence of limb ataxia and presence of subtle truncal ataxia. In this variant of Claude's syndrome, we should carefully assess truncal ataxia to avoid misdiagnosing it as isolated pupil-sparing oculomotor nerve palsy because the patient showed apparently normal gait and truncal ataxia was only revealed by unstable tandem gait.

Background and ObjectiveAlexander disease (ALXDRD) is an autosomal dominant neurologic disorder caused by mutations in the glial fibrillary acidic protein (GFAP) gene and is pathologically defined by Rosenthal fiber accumulation. Most mutations are exonic missense mutations, and splice site mutations are rare. We report a very-late-onset autopsied case of adult-onset ALXDRD with a novel splice site mutation.MethodsGenetic testing of GFAP was performed by Sanger sequencing. Using autopsied brain tissues, GFAP transcript analysis was performed.ResultsThe patient presented mild upper motor neuron symptoms in contrast to the severe atrophy of spinal cord and medulla oblongata. The patient had c.619-1G>A mutation, which is located in the canonical splice acceptor site of intron 3. The brain RNA analysis identified the r.619_621del (p.Glu207del) mutation, which is explained by the activation of the cryptic splice acceptor site in the second and third nucleotides from the 5′ end of the exon 4.DiscussionGFAP gene expression analysis is necessary to clarify the effects of intronic mutations on splicing, even if they are in canonical splice sites. This case showed a much milder phenotype than those in previous cases with missense mutations at Glu207, thereby expanding the clinical spectrum of ALXDRD with Glu207 mutation.

Objectives An isolated intraventricular cerebral varix is a rare entity. Although it is generally asymptomatic, there have been reports of symptomatic cases. Here, we report a case of right hemiplegia and aphasia due to venous infarction caused by thrombosis of the intraventricular varix. Case presentation A 79-year-old woman presented with right-sided hemiplegia and aphasia accompanied by conjugate eye deviation to the left. She had a history of hypertension, dyslipidemia, and asymptomatic isolated cerebral varix located in the left lateral ventricle. Blood analysis indicated no abnormalities in coagulation or fibrinolysis. Plain head computed tomography showed an intraventricular varix in the form of a high-density mass, indicating acute phase thrombosis, and contrast-enhanced computed tomography depicted a filling defect in the varix. In addition, fluid-attenuated inversion recovery imaging showed hyperintense lesions in the deep white matter of the frontal-parietal lobe, indicating venous infarction due to occlusion of the varix of the thalamostriate vein. Glycerol and prophylactic levetiracetam were administered, and she was transferred to another hospital for rehabilitation 23 days after treatment initiation. Conclusion This is the first reported case in which a typically asymptomatic condition, intraventricular cerebral varix, caused venous infarction due to thrombosis and occlusion of the varix of the thalamostriate vein. Careful selection of the treatment strategy is required on a case-by-case basis because an intraventricular varix can cause both bleeding and infarction, which are treated differently.

Objective: We studied autonomic disturbance in patients with dementia with Lewy bodies (DLB), Parkinson disease with dementia (PDD), Alzheimer disease (AD), to determine whether autonomic function tests can be used to distinguish these disorders. Methods: Autonomic function was tested in 56 patients with DLB, 37 patients with PDD, and 59 patients with AD by using the sympathetic skin response, coefficient of variation in R-R interval, the head-up tilt test, serum norepinephrine concentration, and 123I-meta-iodobenzylguanidine cardiac scintigraphy. Symptoms of autonomic dysfunction, such as constipation, urinary symptoms, and orthostatic hypotension, were also noted. Results: The groups did not differ on baseline characteristics other than those associated with Parkinsonism and dementia. All patients with DLB and PDD had some dysautonomia, whereas rates were much lower for patients with AD (19%). Significantly more DLB and PDD patients than AD patients showed abnormalities on autonomic function tests. Conclusions: Autonomic function tests might be quite useful to distinguish DLB and PDD from AD.

A 42-year-old immunocompetent man developed left-sided orbital and temporal stabbing pain, accompanied by ipsilateral lacrimation and conjunctival injection with periorbital edema (figure 1A). On day 10, Hutchinson sign, which is defined as zoster skin lesions in the root, dorsum, and apex of the nose,1 became evident with severe keratoconjunctivitis and iritis (figure 1B). PCR testing of blood revealed varicella-zoster virus and he was diagnosed with herpes zoster ophthalmicus (HZO). Hutchinson sign indicates the involvement of the nasociliary nerve, a branch of ophthalmic nerve innervating the eyelid, nose, and eye (figure 2), and is the strong predictor of the ocular complications of HZO.1,2 Compared to HZO in the absence of Hutchinson sign, the presence of Hutchinson sign indicates a 3.4-fold increase in the risk of developing ocular inflammation and a 4-fold increase in the risk of developing corneal denervation.2

To clarify the immunogenetic background of patients with immunoglobulin G (IgG)4 anti-neurofascin 155 (NF155) antibody-positive chronic inflammatory demyelinating polyneuropathy (CIDP), we genotyped the extended human leukocyte antigen (HLA) haplotypes in 22 Japanese patients with this disorder and compared them with those of healthy Japanese controls. All IgG4 anti-NF155 antibody-positive CIDP patients exclusively carried either HLA-DRB1*15:01-DRB5*01:01-DQA1*01:02-DQB1*06:02 or -(A*24:02)-B*52:01-C*12:02-DRB1*15:02-DRB5*01:02-DQA1*01:03-DQB1*06:01, resulting in significantly increased HLA-DRB1*15, -DRB1*15:01, -DQB1*06:01/06:02, -DQB1*06:02, and -DRB1*15:01-DQB1*06:02 frequencies compared with healthy Japanese controls. These findings indicate the involvement of specific HLA class II molecules in the pathomechanisms of IgG4 anti-NF155 antibody-positive CIDP.

MicroRNAs (miRNAs), particularly those found in human body fluids, have been suggested as potential biomarkers. Among various body fluids, the cerebrospinal fluid (CSF) shows promise as a profiling target for diagnosis and monitoring of neurological diseases. However, relevant genome-scale studies are limited and no studies have profiled exosomal miRNAs in CSF. Therefore, we conducted a next-generation sequencing-based genome-wide survey of small RNAs in the exosomal and non-exosomal (supernatant) fractions of healthy human CSF as well as serum in each donor. We observed miRNA enrichment in the exosomal fractions relative to the supernatant fractions of both CSF and serum. We also observed substantial differences in exosomal miRNA profiles between CSF and serum. Half of the reported brain miRNAs were found in CSF exosomal fractions. In particular, miR-1911-5p, specifically expressed in brain tissue, was detected in CSF but not in serum, as confirmed by digital PCR in three additional donors. Our data suggest that the brain is a major source of CSF exosomal miRNAs. Here we provide the important evidence that exosomal miRNAs in CSF may reflect brain pathophysiology.

A left atrial movable ball thrombus is unusual and may cause fatal systemic emboli or left ventricular inflow obstruction. Among movable ball thrombi, a spinning ball thrombus is a rare and devastating occurrence that results in cardioembolic stroke. Here, we report the case of an 88-year-old woman with a large spherical thrombus spinning in the left atrium when a catastrophic cardioembolic stroke recurred. She had a history of atrial fibrillation but was unable to continue anticoagulation therapy due to hemorrhagic complications and developed an initial cerebral embolism with a large thrombus attached to the left atrium. Twelve days after the initiation of anticoagulation therapy, an extensive cerebral embolism throughout the bilateral frontal lobe recurred with disturbance of consciousness. Transthoracic echocardiography revealed a large detached spherical thrombus spinning in the left atrium. She did not recover consciousness and was moved to another hospital for palliative care three months later. Movable type left atrial thrombi are regarded as a high risk for thromboembolic events, but those with spinning movements may have a worse prognosis.

Background Although paradoxical reactions (PRs) to anti-tuberculosis (anti-TB) therapy during treatment are well-established occurrences, PRs presenting as a new lesion after the completion of treatment are extremely rare, and little is known about the management of such cases, particularly of central nervous system (CNS) tuberculosis. Case presentation A 27-year-old female, with a past medical history of tuberculous meningitis 10 years ago and who completed the anti-TB treatment with asymptomatic remnant tuberculomas in the basal cistern, was admitted to our hospital because of a headache and the worsening of pre-existing visual disturbance. Contrast-enhanced T1-weighted brain magnetic resonance imaging (MRI) revealed new tuberculomas in the left sylvian fissure with a diffuse low signal around it. Because repeated polymerase chain reaction and Mycobacterium tuberculosis culture presented negative results and the patient had no laboratory data suggestive of a relapse of tuberculous meningitis, she was diagnosed with late-onset post-treatment PRs and treated with oral corticosteroids, tapered off over 1 year. Eventually, the symptoms were relieved, and the tuberculomas disappeared. Conclusions Clinicians should consider the possibility of PRs long after the completion of tuberculous meningitis treatment. Hence, a precise MRI-based examination is imperative for the follow-up of CNS tuberculosis, and the unnecessary administration of anti-TB drugs should be avoided. The use of corticosteroids as a treatment option for post-treatment PRs is seemingly safe when the isolated M. tuberculosis is sensitive to the first-line anti-TB therapy.

Lumbar spinal fluid drainage is a common procedure for treating hydrocephalus and alleviating vasospasm by egesting blood in the subarachnoid cavity after subarachnoid hemorrhage. Despite being an effective and safe procedure, cerebrospinal fluid overdrainage might result in serious complications. Here we report the case of a 49-year-old man who suffered from tonsillar herniation with subsequent cervicothoracic syringomyelia in the acute phase of subarachnoid hemorrhage due to vertebral artery dissection. About 2 weeks after lumbar drainage was switched from external ventricular drainage initiated on the day of subarachnoid hemorrhage, the recovery from the disturbance of consciousness revealed tetraplegia, and magnetic resonance imaging demonstrated tonsillar herniation and syringomyelia. Removal of the spinal drain and resumption of external ventricular drainage resulted in the restoration of the herniated tonsils to the normal position and the complete disappearance of syringomyelia 11 days later. We should consider that spinal syringomyelia could develop as a complication of lumbar spinal fluid drainage in the acute phase of thick subarachnoid hemorrhage, particularly in the posterior cranial fossa.

Gene therapy for neurological diseases requires efficient gene delivery to target tissues in the central and peripheral nervous systems. Although adeno-associated virus is one of the most promising vectors for clinical use against neurological diseases, it is difficult to get it across the blood-brain barrier. A clinically practical approach to using a vector based on adeno-associated virus to decrease the expression of a specific gene in both the central and the peripheral nervous system has yet to be established. Here, we analyzed whether upper lumbar intrathecal administration of a therapeutic vector incorporating adeno-associated virus and short-hairpin RNA against superoxide dismutase-1 bypassed the blood-brain barrier to target the spinal cord and dorsal root ganglia. The therapeutic vector effectively suppressed mRNA and protein expression of endogenous superoxide dismutase-1 in the lumbar spinal cord and dorsal root ganglia. Moreover, neither neurological side effects nor toxicity due to the incorporated short-hairpin RNA occurred after the injection. We propose that this approach could be developed into novel therapies for motor neuron diseases and chronic pain conditions, such as complex regional pain syndrome, through silencing of the genes responsible for pathologies in the spinal cord and dorsal root ganglia.

Licorice, the primary ingredient of the Japanese herbal medicine shakuyaku-kanzo-to, can cause pseudoaldosteronism. Thus, shakuyaku-kanzo-to can cause this condition.A 79-year-old woman was brought to the emergency room. She had been experiencing general fatigue, numbness in the hands, and weakness in the lower limbs and could not stand up without assistance. She presented with hypokalemia (potassium level, 1.7 mEq/L), increased urinary excretion of potassium (fractional excretion of K, 21.2%), abnormalities on an electrocardiogram (flat T waves in II, III, AVF, and V1-6), rhabdomyolysis (creatine kinase level, 28,376 U/L), myopathy, metabolic alkalosis with respiratory compensation (O(2) flow rate, 2 L/min; pH, 7.473; pco(2), 61.0 mm Hg; po(2), 78.0 mm Hg; HCO(3), 44.1 mmol/L), hypertension (174/93 mm Hg), hyperglycemia (blood glucose level, 200-300 mg/dL), frequent urination, suppressed plasma renin activity (0.1 ng/mL/hour), decreased aldosterone levels (2.6 ng/dL), and increased urinary cortisol levels (600.6 microg/day; reference range, 26.0-187.0 microg/day).In this case, the observed reduction in the urinary cortisol levels, from 600.6 to 37.8 microg/day, led to a definitive diagnosis of pseudoaldosteronism instead of the apparent mineralocorticoid excess syndrome. Discontinuing shakuyaku-kanzo-to treatment and administering spironolactone and potassium proved effective in improving the patient's condition. Medical practitioners prescribing shakuyaku-kanzo-to should take into account the association between licorice, which is its main ingredient, and pseudoaldosteronism.

Metastatic CNS lymphoma usually manifests as pachymeningeal or leptomeningeal infiltrates, and periventricular dissemination is rare. A 70-year old man first noticed a mass in the left supraclavicular fossa, and then presented with bilateral parkinsonism, followed by consciousness disturbance. Fluid attenuated inversion recovery (FLAIR) image of brain MRI demonstrated hyperintensities at the parenchyma around the lateral ventricle, third ventricle, and fourth ventricle. Gadolinium-enhanced T1-weighted image demonstrated enhancement along the whole wall of the ventricle. Biopsy of the left supraclavicular lymph nodes established a diagnosis of diffuse large B-cell lymphoma. The patient died of multiple organ failure about 5 months after the onset. Autopsy disclosed periventricular dissemination of lymphoma cells that was most severe around the lateral ventricle. We considered that the lymphoma cells entered the ventricular system through the choroid plexus of the lateral ventricle, followed by dissemination of the periventricular parenchyma.

MicroRNAs (miRNAs) are small, noncoding regulatory RNAs that regulate gene expression at the -posttranscriptional level. Although circulating miRNAs in human body fluids have recently been recognized as disease biomarkers, especially in the field of oncology, little is known about the miRNAs in cerebrospinal fluid (CSF). This chapter describes the feasibility of miRNAs in CSF as biomarkers for the diagnosis of brain diseases and the methods of miRNA isolation from CSF.

MicroRNAs (miRNAs) are small, noncoding regulatory RNAs that regulate gene expression at the -posttranscriptional level. Although circulating miRNAs in human body fluids have recently been recognized as disease biomarkers, especially in the field of oncology, little is known about the miRNAs in cerebrospinal fluid (CSF). This chapter describes the feasibility of miRNAs in CSF as biomarkers for the diagnosis of brain diseases and the methods of miRNA isolation from CSF.

In underwater wet welding, it is difficult to detect the weld line position and track the weld line by visual sensors, because of the surrounding water. In particular, it is extremely difficult, when the surrounding water is muddy. Therefore, a new tracking method applying an ultrasonic sensor was proposed. Because of the slower detecting rate, it is not easy to track the weld line at a normal tracking speed by the ultrasonic sensor. Therefore, an improved method for detecting and tracking the weld line was constructed. As the result of tracking tests, the effectiveness of the underwater tracking system by ultrasonic sensing was confirmed.

In order to study the effect of weight-bearing on the maintenance and increase of bone mass, bipedal rats were prepared and changes in the lumbar vertebrae and hindlimb bones were observed. The bone area of the lumbar vertebrae was elavated in bipedal rats, possibly in response to the increase in weight-bearing by the lumbar vertebrae. The response observed in bipedal rats with osteoporosis was dependent on their calcium (Ca) intake. The bone area of the lumbar vertebrae, which failed to increase on a low-Ca diet, did increase when the rats were placed on a high-Ca diet. Weight-bearing was beneficial in increasing bone mass and was also effective in counteracting the decrease in bone mass in osteoporosis; however, an adequate supply of Ca appears to be necessary.

The purpose of this research is to apply monochromatic x rays to the energy subtraction (ES) method. The ES method is a technique that eliminates an image of an arbitrary material by subtracting two images acquired by x rays with different energy owing to a peculiar energy dependence of an absorption coefficient of each material. Namely, the ES method allows us to identify each material. The most ideal ES method can be carried out using two kinds of energy of monochromatic x rays. However, in general, the white x rays is used under clinical conditions, so the materials that have the same absorption coefficient are sometimes presented as different ones because of the influence of the x-ray-beam hardening. Using monochromatic x rays will improve the power to discriminate materials having the similar absorption coefficient. So, use of diffracted monochromatic x rays generated with a diffraction single crystal is the most suitable method in clinical situations.

A 68 year-old right-handed male initially felt an abnormal sensation in the throat and slight difficulties in phonation and articulation. The difficulties slowly progressed. Dementia and kinetic disorder of limbs has not been observed over two years after onset. Although bilateral cortico-bulbar tract sign such as pathological laughter was noted. His articulatory movements were small and indistinct. Phonation was slightly explosive and breathy as if panting out. His clinical feature could be differentiated from primary progressive aphasia because he was not aphasic with excellent word finding, and fell into the realm of progressive anarthria. On SPECT, hypoperfusion was seen in the left frontal region, the left parieto-temporal region, and the right frontal region to a lesser extent. A peculiarity of the patient was in that he had accompanied a difficulty in voluntary inspiration such as taking a deep breath. Because fiberoptic examination of the larynx demonstrated that the vocal cords opened normally when he tried to take a deep breath, the difficulty in inspiration was best explained by loss of voluntary control over diaphragmatic contractions. On voluntary expiration, sustained blowing through the pursued lips (soft blowing) was not successful either. On the other hand, blowing out several candles one by one or blowing up a balloon (hard blowing) was successful. In soft blowing, a voluntary and meticulous control of the diaphragm is necessary to counteract the spontaneous recoil of the lungs. In hard blowing, expiratory muscles may contract forcefully without participation of the diaphragm. This discrepancy is again explained by loss of voluntary control over the diaphragmatic movements. This deficit could have affected phonation; maintaining an adequate vibration on the vocal cords for a certain period of time, it is necessary to control the subglotal pressure at an appropriate level by diaphragmatic control. We believe this is the first patient with a progressive anarthria in which defective voluntary respiration possibly caused impairment of phonation.

A 58-year-old man developed muscle weakness and had more than 1,000 CTG repeats in the myotonin protein kinase gene. He was diagnosed as having myotonic dystrophy. At the time of diagnosis, a large tumor was detected in his abdominal cavity on CT scan examination. He died from pneumonia 6 years later. At autopsy, the abdominal tumor was diagnosed as a lipoma. Several types of tumor have been reported to be associated with myotonic dystrophy type 1; however, this is the first detailed clinical case demonstrating the possible relationship between myotonic dystrophy and lipoma.

Tremor in Klinefelter’s syndrome is believed to be essential tremor since the publication of “Klinefelter’s syndrome and essential tremor” in 1969. However, the author also stated that tremor in Klinefelter’s syndrome might differ from essential tremor. A 71-year-old man with Klinefelter’s syndrome who suffers from postural hand tremor is described. The electromyogram indicated lower motor neuron disturbance and chronic neurogenic change. The muscle biopsy indicated neurogenic muscle atrophy. Upon testosterone administration, the amplitude of tremor was reduced and a gradual improvement in handwriting was observed. The tremor in this patient was different from essential tremor. The foresight by Baughman in 1969 proved to be true in this patient. This case report provides new insights into the pathogenesis and treatment of tremor in Klinefelter’s syndrome, which would benefit patients who suffer from the tremor.