Ocular motor disorders in mitochondrial encephalopathy with lactic acid and stroke-like episodes with the 3271 (T-C) point mutation in mitochondrial DNA.

Background: Ocular motor function can provide insights into areas of dysfunction within the nervous system. There are no published eye movement recordings in patients with mitochondrial encephalopathy with lactic acid and stroke-like episodes (MELAS). Our purpose in this study was to analyze the ocular motor features of a family with MELAS with a (T-C) mutation at nucleotide position 3271 in the mitochondrial tRNA-Leu gene.

Clinicopathological and virological analyses of familial human T-lymphotropic virus type I--associated polyneuropathy.

Human T-lymphotropic virus type I (HTLV-I) is known to be the causative agent of the chronic myelopathy, HTLV-I--associated myelopathy (HAM), and on rare occasions infection is also associated with the development of polyneuropathy. Here the authors present an HTLV-I--positive family of whom four members developed a chronic demyelinating polyneuropathy without HAM. Four female patients in a family from Hokkaido in Japan developed distal dominant paresthesia and muscle weakness in the second and third decades of their life.

Dysferlinopathy associated with rigid spine syndrome.

Dysferlinopathy and rigid spine syndrome occurring in a 50-year-old man is reported. The patient noticed stiffness of knee and ankle joints, which gradually extended to neck, wrist and elbow joints leading to difficulty in anterior flexion. Muscular weakness and wasting of the lower extremities had developed since age 40, accompanied by a limitation of anterior bending of the spine.

Anti-Hu paraneoplastic syndrome presenting with brainstem-cerebellar symptoms and Lambert-Eaton myasthenic syndrome.

Paraneoplastic syndrome (PNS) with two distinct neurological features was reported in a 50-year-old man who presented initially with vertigo, ataxia, dysarthria, tremor, confusion, urinary retention and hypotension. Pulmonary X-ray findings, class IIIb sputum cytology, and positive anti-Hu antibody established the diagnosis of PNS associated with small-cell lung cancer (SCLC). Two cycles of combined chemotherapy resulted in shrinkage of the lung tumor together with complete recovery of neurological symptoms and disappearance of anti-Hu antibody.

Clinicopathological studies of peripheral neuropathy in Churg-Strauss syndrome.

Clinicopathological studies were performed on the visceral organs and the sural nerve of a male patient with Churg-Strauss syndrome (CSS) in order to understand the mechanisms of peripheral nervous system damage. A 67-year-old man, with a 2-year history of bronchial asthma, developed acutely painful paraplegia and dyspnea. Laboratory data showed a leukocytosis, an elevated serum creatinine kinase (CK) and marked eosionophilia.

Chronic demyelinating polyneuropathy in graft-versus-host disease following allogeneic bone marrow transplantation.

In recent years a novel problem has arisen in organ transplantation medicine, namely GVHD. The nervous system has been involved mainly at the level of the CNS and this can lead to a serious outcome for the patient. In rare cases, peripheral nerves may be affected and show acute or chronic polyneuropathy.