A Case of a Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a de novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3.

Calpainopathy is primarily an autosomal recessive inherited myopathy; however, dominantly inherited cases with a pathogenic variant of c.1333G>A have been reported. A 13-year-old Japanese girl presented with toe walking and elevated serum creatine kinase levels. Genetic panel testing revealed compound heterozygosity for c.1333G>A and a novel variant of c.1331C>T in CAPN3, leading to a diagnosis of calpainopathy. A genetic analysis of her parents revealed the possibility that c.1333G>A was de novo. In this patient, the onset age was earlier than that of the reported autosomal dominant cases, suggesting the influence of the novel variant in the contralateral allele.

Anti-nuclear matrix protein 2 antibody-positive dermatomyositis with gastrointestinal ulcers: A case report.

Gastrointestinal manifestations are a very rare complication of dermatomyositis (DM) and are much less frequent in adult cases than in juvenile cases. Only a few previous papers have reported adult patients who had DM with anti-nuclear matrix protein 2 (anti-NXP2) antibodies and who developed gastrointestinal ulcers. Herein, we report a similar case of a 50-year-old man who had DM with anti-NXP2 antibodies followed by relapsing multiple gastrointestinal ulcers. Even after the administration of prednisolone, his muscle weakness and myalgia deteriorated and gastrointestinal ulcers relapsed. In contrast, intravenous immunoglobulin and azathioprine improved his muscle weakness and gastrointestinal ulcers. Based on the parallel disease activity of the muscular and gastrointestinal symptoms, we considered that his gastrointestinal ulcers were a complication of DM with anti-NXP2 antibodies. We also propose that early intensive immunosuppressive therapy would be required for the muscular and gastrointestinal symptoms in DM with anti-NXP2 antibodies.

Anti-Lactosylceramide antibody positive combined central peripheral demyelination emerging from long-standing juvenile-onset chronic inflammatory polyradiculoneuropathy; a report of two cases.

Anti-Lactosylceramide (LacCer) antibodies are associated with neurological inflammation involving both the peripheral and central nervous system (PNS, CNS respectively), however, the documented number of cases is small. Uncertainty remains whether its positivity can identify a unique clinical entity. Here, we describe two anti-LacCer antibody positive cases, both with long histories (> 30 years) of teenage-diagnosed chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). CNS lesions including the medulla oblongata were observed for the first time in adulthood. We suggest that this secondary progression of CNS lesions in juvenile-onset CIDP can be one of the characteristic features of anti-LacCer antibody associated neurological disorder.

Methotrexate-induced Subacute Encephalopathy That Showed No Abnormalities on Magnetic Resonance Imaging Soon after Symptom Appearance.

A 21-year-old woman was diagnosed with acute lymphoblastic leukemia. After the administration of intrathecal methotrexate (MTX), the patient experienced dysarthria and paralysis for one hour. Magnetic resonance imaging (MRI) performed one hour from the onset and just before symptoms disappeared revealed no abnormalities. The next day, the symptoms appeared again, and diffusion-weighed MRI revealed a high-intensity area in the left frontal lobe. The patient was diagnosed with MTX-induced encephalopathy. This case suggested that MRI performed as soon as symptoms appear might show normal findings in MTX-induced encephalopathy.

Nystagmus using video-oculography in psychiatric patients.

To evaluate whether nystagmus has clinical significance in psychiatric patients who have functional and/or organic brain dysfunction. We performed gaze, positional and positioning nystagmus tests on 227 patients with psychiatric diseases (144 men, 83 women, with an average age +/- SD of 62.5 +/- 14.0 years) in order to evaluate the frequency and characteristics of nystagmus. Patients were classified according to the underlying disease. Normal control subjects were 107 subjects (26 men, 81 women, with an average age +/- SD of 35.6 +/- 10.0 years). Nystagmus was observed in 56 (24.7%) of 227 cases. Nystagmus was seen in 16 (59.3%) of 27 cases of alcoholism, 14 (22.2%) of 63 cases of organic psychiatric disorders, 25 (20.2%) of 124 cases of schizophrenia, 1 (20.0%) of 5 cases of excited mental retardation, 0 (0.0%) of 7 cases of mood disorders, 0 (0.0%) of 1 case of anxiety disorders and 1 (0.9%) of 107 subjects of normal control. There was a significant difference between psychiatric diseases and normal control. These results indicate that nystagmus may also be a very important clinical finding not only in patients with neurological and neuro-otological diseases, but also in patients with psychiatric diseases.

Prospective study of major depressive disorder with white matter hyperintensity: comparison of patients with and without lacunar infarction.

OBJECTIVE: To investigate clinical characteristics, outcome, and risk factor for cerebrovascular disease in patients who had major depressive disorder and white matter hyperintensity (WMHI). METHOD: A total of 123 new patients diagnosed with major depressive disorder by semi-structured interview underwent magnetic resonance imaging (MRI) and were placed into one of three groups based on results. Patients with no abnormal findings (NF), patients with WMHI and no lacunar infarction (WMHI), and patients with lacunar infarction (LI). RESULTS: In the WMHI group, age at initial onset of depression and age at time of interview were both higher than in the NF group, as was severity of depression. Hamilton Rating Scale for Depression (HRSD) scores were significantly higher in the WMHI group than in the NF group. Total WMHI was significantly correlated only with age at initial onset of depression and age at time of interview. In the WMHI group, age at interview was lower than in the LI group and systolic and diastolic blood pressures were lower. Survival analysis regarding the clinical outcome of remission was conducted, but no significant differences were discovered among the three groups, WMHI, LI, and NF. However, the suicide rate was significantly higher in the LI group than in the other two groups. CONCLUSIONS: The origin and clinical characteristics of depression accompanied by WMHI may be specific; additional stringent study in comparison with individuals with LI is needed.

Contributing factors to changes of cerebral blood flow in major depressive disorder.

BACKGROUND: Results of single photon emission computed tomography (SPECT) regarding mood disorders have been inconsistent. The aim of the study was to elucidate factors contributing to changes in cerebral blood flow in patients with major depressive disorder. METHODS: A total of 89 consecutive patients diagnosed with major depressive disorder using DSM-IV semistructured interviews were evaluated using single photon emission computed tomography, the 17-item Hamilton Rating Scale for Depression (HRSD), and the Global Assessment of Function (GAF) scale. Nineteen of these patients also underwent the same tests during remission. RESULTS: Global cerebral blood flow (gCBF) was significantly higher during remission than at the time of enrollment. Significant correlations were seen between gCBF and age, duration of previous episode of depression, and hypochondriasis. However, no correlation was seen between gCBF and HRSD, GAF, severity and duration of depressive episode, or melancholia-type depression. Correlations between gCBF and age were seen only at enrollment and disappeared during remission. No differences in regional cerebral blood flow at any site were seen between time of enrollment and remission for the same patient. LIMITATION: Analysis that adequately accounts for these factors to changes of cerebral blood flow in major depressive disorder will require a large subject population. CONCLUSIONS: These results suggest that although there is a decrease in gCBF in major depressive disorder, the level of the decrease is determined by conditions present before episode onset, rather than by the characteristics of the episode itself. The findings also suggest that the correlation between gCBF and age is state-dependent.