Akiko Fujimoto

Therapeutic effects and prevention of recurrence of acquired idiopathic generalized anhidrosis via i.v. immunoglobulin treatment.

Dear Editor, Acquired idiopathic generalized anhidrosis (AIGA) is a rare disorder in which systemic anhidrosis occurs in the absence of any causative skin, metabolic or neurological disease. Although the reasons that only sweat glands are disturbed in patients with AIGA and the specific mechanisms of sweat gland impairment are still unknown, autoimmune mechanisms are believed to play an important role in the development of AIGA. Thus, AIGA treatments almost always involve steroid and/or cyclosporin administration. However, these treatments have insufficient efficacy, as shown by long-term follow up of patients with the disease. Ohshima reported that 35.7% of the patients with AIGA had recurrences after steroid pulse therapy or high-dose oral steroid therapy. To prevent recurrent disease, we must thus develop novel therapies for AIGA. This study aimed to evaluate the therapeutic effects of i.v. immunoglobulin G (IVIG) and the possibility of preventing the recurrence of AIGA with IVIG treatment. Two Japanese patients (a 53-year-old woman and a 28year-old man) with AIGA who could not use steroid drugs or who did not improve after steroid therapy were chosen for evaluation. In both cases, i.d. injection of acetylcholine did not elicit any sweating, and thermoregulatory sweat testing in an artificial climate with a room temperature of 40°C revealed generalized anhidrosis. In addition, histopathological examination of an anhidrotic lesion of the left forearm skin revealed no remarkable lymphocytic infiltration around the sweat glands (Fig. 1a). They had had no specific viral illness before

Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan, Diagnostic Unit for Amyloidosis, Kumamoto University Hospital, Kumamoto, Japan, Department of Nephrology, Department of Cardiology, Kansai Rosai Hospital, Amagasaki, Japan, Department of Diagnostic Radiology, Department of Molecular Laboratory Medicine, and Department of Morphological and Physiological Sciences, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan

Life-threatening arrhythmias in a becker muscular dystrophy family due to the duplication of exons 3-4 of the dystrophin gene

We herein present a report of three patients with Becker muscular dystrophy in the same family who developed complete atrioventricular block or ventricular tachycardia with severe cardiomyopathy. Our cases became unable to walk in their teens, and were introduced to mechanical ventilation due to respiratory muscle weakness in their twenties and thirties. In all three cases, a medical device such as a permanent cardiac pacemaker or an implantable cardiac defibrillator was considered to be necessary. The duplication of exons 3-4 in the dystrophin gene was detected in two of the patients. In patients with Becker muscular dystrophy, complete atrioventricular block or ventricular tachycardia within a family has rarely been reported. Thus attention should be paid to the possibility of severe arrhythmias in the severe phenotype of Becker muscular dystrophy.

High prevalence of small vessel disease long after cranial irradiation

Accelerated atherosclerosis of intra- or extracranial large arteries is a major cause of radiation-induced strokes. Recent development of MRI techniques has enabled detection of another important vasculopathy: microinfarcts or microbleeds after cranial irradiation. The purpose of this study was to investigate the incidence and characteristics of small vessel disease after cranial irradiation. MR images and clinical records of 102 outpatients who had undergone cranial irradiation to brain tumors were retrospectively reviewed. Only those who had undergone T1WI, T2WI, FLAIR, and T2∗WI during follow-up were included. Small vessel disease including small subcortical infracts, microbleeds, and volume of white matter lesions were assessed on the latest MR images of each patient. Ischemic or hemorrhagic stroke during the follow-up period was also reviewed. Twelve patients (mean age at the latest MRI, 38.5years; 8men) were assessed. The total radiation dose was 52.3±9.7Gy in these patients, 9 of whom received whole brain irradiation. Small subcortical infarcts (mean 2.3) were detected in 8 patients, microbleeds (mean 19.4) were detected in 11, and white matter lesion volume was 38.3±11.6ml. During the follow-up period of 19.8±9.7years, 5 patients experienced stroke (4 lacunar, 1 hemorrhagic). These strokes occurred as long as a median 21.9 (range, 10.4-30.2) years after cranial irradiation. In conclusion, small vessel disease is not a rare complication after cranial irradiation, even in young patients. Patients after cranial irradiation should be followed up with MR imaging including a hemosiderin-sensitive sequence.

Acute Multiple Cerebral Infarction in a Patient with an Accessory Mitral Valve

A 96-year-old woman developed hemiparesis 2 weeks after orthopedic surgery. Magnetic resonance imaging revealed multiple cerebral infarctions in the bilateral hemisphere. Transthoracic echocardiography revealed a mobile structure attached to the anterior mitral leaflet that protruded toward the left ventricular outflow tract. The structure was identified as an accessory mitral valve. Doppler echocardiography showed that there was no significant left ventricular outflow obstruction. This is a rare case of a silent accessory mitral valve that was detected after multiple cerebral infarctions.

Coexistence of Amyotrophic Lateral Sclerosis and Myasthenia Gravis

The mechanisms by which amyotrophic lateral sclerosis (ALS) causes motor neuron degeneration remain unknown. We present the case of a 77-year-old Japanese female with clinically probable ALS, who developed ALS symptoms 41 years after onset of myasthenia gravis (MG). We concluded that neither the relapse of MG nor the adverse effects of anti-cholinesterase medication aggravated her symptoms. Although MG and ALS are extremely rare, we reviewed several case reports describing their coexistence. We suggest that clinicians should consider the possibility of ALS occurring with MG. Further investigations will improve our understanding of the pathogenic relationship between ALS and MG.

Left ventricular undulation in a patient with atrial flutter

An approximately 60-year-old woman was referred to our department for bradycardia. She had been previously diagnosed with myotonic dystrophy and was bedridden for the last 20 years. Electrocardiography showed atrial flutter (AF) with advanced atrioventricular block that persisted for 40 days. The AF rate was 250 beats/min. Transthoracic M-mode echocardiography showed left ventricular undulation [1] at the apex as well as the base (Fig. 1, upper and lower panels). Left ventricular systolic function and left atrial dimension (25 mm) were normal. M-mode color Doppler of the mitral valve through the apical window showed mitral inflow and mitral regurgitation at the pace of AF (Fig. 1, lower panel). On tissue velocity imaging, curved color-coded anatomical M-mode showed a seesawlike relationship between wall motions of the lateral wall and septum (Fig. 2, upper panel). Longitudinal strain tracings of the lateral wall and septum showed that myocardial elongation and shortening occurred at the same pace as that of AF with different time lags (Fig. 2, lower panel). Although the exact mechanisms of this phenomenon are unclear, we believe that different timings of regional myocardial elongation and shortening might have caused left ventricular undulation in this patient.

Decreased Signal Intensity Ratio on MRA Reflects Misery Perfusion on SPECT in Patients with Intracranial Stenosis: Decreased MR Signal Intensity and Misery Perfusion

Acetazolamide reactivity on 123I‐IMP SPECT is used to detect misery perfusion due to intracranial atherosclerosis. Noninvasive fractional flow assessed by signal intensity ratio (SIR) on time of flight‐magnetic resonance angiography (TOF‐MRA) might offer a feasible alternative to identify high‐risk intracranial stenosis.

Small vessel disease associated with cranial irradiation

We report two cases of young patients with lacunar stroke who demonstrated multiple microbleeds (MBs) a long period after cranial irradiation. Case 1: a 44-year-old man developed dysarthria and left hemiparesis from a day before admission. Magnetic resonance imaging showed an acute lacunar infract in the right corona radiata. Case 2: a 28-year-old woman was admitted due to dysarthria and right hemiparesis. An acute lacunar infract was detected in the left corona radiata. T2* WI revealed multiple MBs in the region corresponding to the irradiation in both patients. Since these patients had no vascular risk factors except for smoking habit in the former one and dyslipidemia in the latter one. We speculated that lacunar stroke and MBs had resulted from past cranial irradiation. In addition to accelerated atherosclerosis of the large vessels, small vessel disease should be noted as an important long-term complication after cranial irradiation.