MELAS syndrome associated with a new mitochondrial tRNA-Val gene mutation (m.1616A>G).

We describe the case of a 40-year-old-man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, with cardiomyopathy and severe heart failure. He had a mitochondrial transfer RNA (tRNA) mutation (m.1616A>G) of the (tRNA-Val) gene, and it was not found in MELAS syndrome ever before. The presence of this newly observed tRNA-Val mutation (m.1616A>G) may induce multiple respiratory chain enzyme deficiencies and contribute to MELAS syndrome symptoms that are associated with mitochondrial DNA (mtDNA) mutations. We report that the pathognomonic symptom in MELAS syndrome caused by this newly observed mtDNA mutation may be rapid progression of cardiomyopathy and severe heart failure.

Cystometrography of meningitis-retention syndrome.

Although the combination of acute urinary retention and aseptic meningitis has not been well recognised, this combination can be referred to as meningitis-retention syndrome (MRS). We report a case of MRS with urodynamic follow-up. A 29-year-old man developed fever and headache, and after 7 days, he developed sudden urinary retention. Neurological examination indicated stiff neck, hyper-reflexes of the lower extremities. Cerebrospinal fluid examination showed mononuclear leucocytosis, increased protein level. Myelin basic protein was absent. MRI of the brain and spinal cord were normal. Cystometrography revealed an atonic bladder. The diagnosis was MRS. After 11 days of hospital day, his symptoms reduced rapidly, and on the 12th day, cystometrography revealed normal pattern. In mild cases, the symptoms reduced and the urodynamic examination improved rapidly. Although MRS is a rare symptom, its urodynamic assessment is important.

Surgical Resection during Chemotherapy of Pulmonary Cryptococcoma in a Patient with Cryptococcal Meningitis.

We herein report the case of a 72-year-old-man with pulmonary cryptococcoma along with cryptococcal meningitis who underwent surgery for pulmonary lesions while receiving chemotherapy. We noted two major clinical issues. First, the presence of pulmonary cryptococcoma had a detrimental influence on the cryptococcal meningitis. Second, resolution of the pulmonary cryptococcoma through antifungal therapy had a beneficial influence on the recovery from cryptococcal meningitis. As observed in the current case with pulmonary and meningeal cryptococcosis, surgery for pulmonary cryptococcoma with continuous antifungal treatment should be considered for cases where the symptoms respond poorly to antifungal therapy and radiographic abnormalities persist.

Cryptococcal meningitis associated with increased adenosine deaminase in the cerebrospinal fluid.

INTRODUCTION: Clinically, increased cerebrospinal fluid (CSF) adenosine deaminase (ADA) level is an important diagnostic clue of tuberculous meningitis. However, increased CSF ADA level can be caused by other neurological diseases. CASE DESCRIPTION: We report a case of a 67-year-old woman with cryptococcal meningitis presented with increased ADA level of the CSF. In parallel with her recovery, the ADA level of CSF decreased steadily. This is the first case described the chronological change in CSF ADA level of the patient with cryptococcal meningitis in detail. DISCUSSION AND EVALUATION: Clinically, increased CSF ADA level is an important diagnostic clue of tuberculous meningitis. However, previously, it was reported that increased CSF ADA level can be caused by other neurological diseases. In this case, the patient was diagnosed with cryptococcal meningitis, and the possibility of coinfection with tuberculous meningitis has been discarded by the negative PCR, negative cultures and the clinical course. In addition, the chronological change in CSF ADA level was useful for follow-up assessment. CONCLUSIONS: Cryptococcal meningitis should be considered for the differential diagnosis for diseases presented increased CSF ADA.

Overlap of Myasthenia Gravis and Miller Fisher Syndrome.

In this case report, we describe a patient with myasthenia gravis (MG) and Miller Fisher syndrome (MFS) overlap. A 69-year-old woman presented with acute bilateral ptosis, ophthalmoplegia, ataxic gait, and areflexia. The MFS diagnosis was confirmed with by a positive anti-GQ1b IgG antibody test result. MG was diagnosed from electrophysiological, edrophonium, and serological test results. Although intravenous immunoglobulin therapy is effective for both diseases, two courses of the therapy did not improve the patient's symptoms. However, steroid therapy was effective. Although the overlap of MG and MFS is very rare, it should be considered in the differential diagnosis of neuro-ophthalmic diseases.

Cardiac Sympathetic Hyperactivity in a Patient with Guillain-Barré Syndrome: An Analysis Using Cardiac [(123)I] Metaiodobenzylguanidine (MIBG) Scintigraphy.

A 31-year-old woman gradually developed weakness in the lower extremities and gait disturbance. Subsequently, the patient developed severe constipation and hypertension with tachycardia. Nerve conduction studies revealed demyelinating polyneuropathy. Serum anti-GQ1b IgG antibody was detected. The levels of plasma noradrenaline and dopamine and urinary noradrenaline were elevated. Cardiac [(123)I] metaiodobenzylguanidine (MIBG) scintigraphy showed a normal H/M rate at the early phase and an elevated washout rate. According to these findings, the patient was diagnosed with Guillain-Barré syndrome with cardiac sympathetic hyperactivity. During convalescence, the plasma and urine catecholamine levels fell within the reference ranges, and MIBG scintigraphy showed a decreased washout rate.

[Yamatogawa scandal denounces psychiatric treatment system of Japan].

OSAKA Center for Mental Health and Human Rights, established in 1985, has been taking action on the Yamatogawa Hospital Affair. This hospital had developed many scandals for a long time. For example, the inpatients were murdered through the violence by the hospital staffs in 1969, 1979 and 1993. Despite the repeated accusations, this hospital had been allowed to operate until Oct. 1997, when Osaka Prefecture Governor ordered the hospital to stop its operation. Throughout the entire course of this Affair, the Psychiatric Review Board of Osaka Prefecture (regulated and expected to protect the patient's rights by the Mental Health Law and its amendment, the Mental Health and Welfare Law) did not function. The prohibition articles of the Law about restriction on actions, such as correspondence and interview, were not effective and had been neglected. The responsible department of the Prefecture Government had not started the valid investigation into the hospital. We demand the valid measures to protect the human rights of psychiatric patients. The author proposed the independence of the Psychiatric Review Board from the Prefecture Government, the start of the ombudsman system and so on. "Principles" by the UN (1991) should be cleared.