Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.

Objective: Vanishing white matter disease (VWM) is a chronic, progressive leukoencephalopathy associated with episodes of rapid deterioration following minor stress events such as head traumas or infectious disorders. The white matter of the patients with VWM exhibits characteristic radiological findings.

Method: The genes encoding all five subunits of eukaryotic translation initiation factor 2B (EIF2B) were analyzed in patients, who were tentatively diagnosed with VWM, by Sanger sequencing.

A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.

Neuroferritinopathy or hereditary ferritinopathy is an inherited neurodegenerative disease caused by mutations in ferritin light chain (FTL) gene. The clinical features of the disease are highly variable, and include a movement disorder, behavioral abnormalities, and cognitive impairment. Neuropathologically, the disease is characterized by abnormal iron and ferritin depositions in the central nervous system.

[Evaluation of the relation between the depth of left double-lumen endobronchial tube and the patient's height--comparison between patients over 20 years of age and those under 19 years].

Background: In adult patients, there is a strong correlation between the appropriate depth of insertion of a left double-lumen endobronchial tube (DLT) and height. However, for patients with the same height, we noted the tendency of the depth of insertion being about 1 cm shorter for patients under 19 years of age compared to that for those over 20 years.

Methods: We compared the depth of insertion between patients over 20 years and those under 19 years.

[Transient left ventricular apical ballooning, "Takotsubo" cardiomyopathy, in an amyotrophic lateral sclerosis patient on long-term respiratory support].

A 52-year-old woman developed dysarthria and dysphagia in April 1997, then experienced progressive weakness in her arms and legs several months later, which led to a diagnosis of amyotrophic lateral sclerosis (ALS). In October 1998, the patient was placed on respiratory support and thereafter in a bedridden state. On December 6, 2004, the patient suddenly fell into cardiogenic shock.

[Posterior spinal cord infarction presenting Brown-Séquard syndrome].

We report a 56 year-old-woman with spinal cord infarction. She experienced left-sided girdle pain without precipitating symptoms and she developed monoparesis of her left leg and urinary retention. She also presented the segmental loss of total sensations in the Th10-11 area of the left trunk, the disturbance of position and vibration senses in the left leg and the disturbance of pain and temperature senses in the right leg.

[A case of esophageal achalasia followed by Parkinson's disease].

In 1992, a 63 year-old woman complained of dysphagia and chest pain, and was diagnosed with esophageal achalasia. Three years later, she developed resting tremor, cog-wheel rigidity, and retro-pulsion, and was diagnosed with Parkinson's disease and given appropriate medication. Several years later, intractable vomitting and aspiration pneumonia developed, and the lower esophageal sphincter was dilated using a pneumatic balloon dilator under gastroscopic guidance in 2004.

[Allergic skin rashes by methylprednisolone in a case with multiple sclerosis].

We reported a 34-year-old woman with multiple sclerosis showing an allergic reaction to methylprednisolone sodium succinate. She was admitted to our hospital with a complaint of hypesthesia in the right side of the face and body. MRI showed several high signal intensity lesions in her brain with Gd-DTPA enhancement effect.

[Cortical reflex myoclonus in adult onset Huntington's disease].

We report a case of cortical reflex myoclonus in adult onset Huntington's disease (HD). The patient is a 51-year-old woman. Chorea and myoclonus were observed on her face and extremities.