A case of GNE myopathy mimicking hereditary motor neuropathy.

A 36-year-old woman who presented with upper limb distal weakness since the age of 15 years, with gradual progression to the lower limbs, is reported. Hereditary motor neuropathy was initially suspected based on distal weakness and hyporeflexia; however, whole exome sequencing accidentally revealed a compound heterozygous variant in the GNE gene, and ultrasound revealed increased homogeneous echogenicity in the involved muscles, which is characteristic of myopathic changes. Muscle magnetic resonance imaging revealed fatty infiltration in all limb muscles, sparing the triceps brachii, vastus lateralis and vastus medialis. Muscle biopsy revealed intracytoplasmic rimmed vacuole, supporting the diagnosis of GNE myopathy.

Microscopic polyangiitis presenting with capsular warning syndrome and subsequent stroke.

A 55-year-old man developed ischemic stroke after three episodes of transient dysarthria and left hemiplegia, a typical manifestation of capsular warning syndrome. Magnetic resonance imaging of the brain showed bilateral basal ganglionic infarction. The patient had no significant risk of stroke. However, the systemic manifestations, an elevated titer of perinuclear anti-neutrophilic cytoplasmic antibody and a skin biopsy revealing leukocytoclastic venulitis confirmed the undrlying microscopic polyangiitis.

MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease.

OBJECTIVES: To characterize the clinical and cellular phenotypes of a novel MPZ mutation identified in a Chinese family with Charcot-Marie-Tooth (CMT) disease type 1B. METHODS: The family was evaluated clinically, electrophysiologically, pathologically, and genetically. The wild-type and mutant P(0) fused with fluorescent proteins were expressed in vitro to monitor their intracellular trafficking. Adhesion assay was also performed to evaluate the adhesiveness of cells. RESULTS: The novel MPZ mutation, c.367G>A, is associated with a late-onset demyelinating CMT phenotype with autosomal dominant inheritance. The median motor nerve conduction velocities of patients in this family ranged from 15.7 to 19.6 m/second. The neuropathologic studies from a sural nerve biopsy revealed a severe loss of myelinated fibers, and some onion bulb formation with clusters of regenerative fibers. Fluorescence analysis demonstrated that the mutant protein was retained ectopically in the endoplasmic reticulum and Golgi apparatus. Adhesion assay demonstrated a defective adhesiveness of cells expressing the mutant P(0)G123S protein. CONCLUSION: The novel P(0)G123S mutation is associated with typical findings of late-onset demyelinating polyneuropathy in the electrophysiologic and pathologic studies, putatively resulting from aberrant intracellular trafficking of the mutant P(0) protein, which compromises the adhesiveness of the cells.

Automatic breast region extraction from digital mammograms for PACS and telemammography applications.

High spatial resolution results in very large digital mammogram file sizes. For telemammography, and picture archiving and communication systems, the large file issue introduces technical difficulties in image transmission, storage, and display. We propose extracting the breast region from the mammogram to reduce the image file size. The challenge is on how to faithfully extract breast regions from digital mammograms generated from different types of acquisition systems that contain various imaged compositions. We report an algorithm to automatically identify the orientation of breast region and extract the breast region from mammograms. Breast regions extracted from full-field digital mammograms reduce file sizes by three to five folds.

Polyneuropathy associated with acute monoblastic leukemia: a case report.

Polyneuropathy associated with acute myelocytic leukemia is rare. We report a woman aged 34 years with acute monoblastic leukemia and polyneuropathy in hematology remission. The clinical, electrophysiological and pathological findings revealed acute symmetrical sensorimotor axonal polyneuropathy that differs from previous reports of three cases.

Myasthenia gravis complicated with hyperthyroidism, thymoma and serological evidence of systemic lupus erythematosus: a case report.

A 55-year-old woman with a several-decade history of thyroid goiter is presented here as a case of myasthenia gravis complicated with hyperthyroidism and thymoma with serological evidence of systemic lupus erythematous (SLE). She had had right eyelid ptosis since July 1992, with a positive tensilon test. The acetylcholine receptor antibody titer was 4.01 nmol/L. A thyroid function test revealed T3: 162 ngidl, T4: 14.98 micrograms/dl, TSH:0.09 microIU/ml and positive anti-microsomal antibody (1:400). An MRI of the chest showed a thymoma in the left thymus. Other autoantibody screenings include ANA (1:320, speckled pattern) and anti-ds DNA (+) suggesting a serological association with SLE. After three courses of plasmapheresis, she received an extended maximal thymomectomy and a subtotal thyroidectomy. She was then treated with prednisolone, Mestinon, Eltroxin and discharged without complications. The coexistence of myasthenia gravis, hyperthyroidism, thymoma and a serological evidence of SLE have not previously been documented in the literature.

Myokymia and neuromyotonia of the tongue: a case report of complication of irradiation.

A 51-year-old man has suffered from progressive dysarthria since 1989. He himself noted slight weakness and tightness of the tongue, so that he was unable to perform motor tasks in a normal fashion. He was diagnosed as having nasopharyngeal carcinoma and had irradiation 70 Gy in 32 divided doses in 1979. Neurological examination revealed left-sided tongue atrophy and myokymia sparing of facial muscles involvement. Electrical discharges of myokymia and neuromyotonia were observed in the tongue muscles, suggesting hypoglossal nerve lesion with hyperexcitability of the axon membrance. Computed tomogram of brain did not show any evidence of recurrence of tumor; indicating that irradiation was the pathologic basis. Our report revealed that myokymia and neuromyotonia of the tongue was an unusual complication of irradiation.

Coexistence of Parkinson's disease and myasthenia gravis: a case report.

This is a report on a 62-year-old Chinese woman with Parkinson's disease (PD) for 8 years who developed myasthenia gravis (MG) in the last year. In this case, there was no adverse effect of trihexyphenidyl on MG, whereas pyridostigmine worsened the PD.

Myoclonus associated with hyperthyroidism and thymoma: a case report.

Movement disorders associated with hyperthyroidism or thymoma are extremely rare. A 52-year-old woman had developed myoclonus since June, 1989. Hyperthyroidism and thymoma were diagnosed 1 month and 9 months later. Myoclonus improved after thyroid treatment and thymectomy. If the association was not only a coincident phenomenon, autoimmunity should be considered in this previously unrecognized association.

Reversible motor neuron disease.

We investigated a 69-year-old male with a clinical syndrome resembling amyotrophic lateral sclerosis characterized by fasciculation, wasting of the limb muscles and increased deep tendon reflexes in the lower limbs. Electromyographic (EMG) studies showed abundant positive sharp waves and fibrillation potentials with decreased recruitment in the limbs and paraspinal muscles. The patient recovered almost completely in approximately 1.5 years, and follow-up EMG studies showed no positive sharp waves or fibrillation potentials in the limb muscles except for some polyphasic motor units in the bilateral intrinsic hand muscles. No known systemic disease, malignancy or heavy metal intoxication was found during the course of his illness. So far, there are only few cases reported with spontaneous remission of motor neuron disease; however, the possibility should always be considered.

Generalized neuropathy in Taiwan: an etiologic survey.

From July 1988 to June 1989, the etiology was registered of 520 patients with generalized neuropathy in 5 neurological centers in Taiwan. The neuropathy was diabetic in 256 cases (49.23%), alcoholic in 45 (8.65%), inflammatory in 34 (6.53%; including 21 with acute inflammatory demyelinating polyneuropathy, 12 with chronic inflammatory demyelinating polyneuropathy, and 1 with chronic relapsing polyneuropathy), 12 with associated malignancy (2.31%), 9 with dysproteinemia (1.73%), uremic in 22 (4.23%), hereditary motor and sensory in 22 (4.23%), toxic in 14 (2.69%), ischemic in 12 (2.31%), hypothyroidism in 10 (1.92%), nutritional deficiency and malabsorption in 6 (1.15%), chronic liver disease in 4 (0.77%), other diseases in 11 (2.12%) and unclassified in 63 (12.12%). This survey provided a crude etiological picture of generalized neuropathy on this island.

Podophyllotoxin intoxication: toxic effect of Bajiaolian in herbal therapeutics.

Bajiaolian (Dysosma pleianthum), one species in the Mayapple family, has been widely used as a general remedy and for the treatment of snake bite, weakness, condyloma accuminata, lymphadenopathy and tumours in China for thousands of years. However, the textbooks of traditional Chinese medicine mention little about the toxicity of Bajiaolian. Within 1 year, the authors saw five people who manifested nausea, vomiting, diarrhoea, abdominal pain, thrombocytopenia, leucopenia, abnormal liver function tests, sensory ataxia, altered consciousness and persistant peripheral tingling or numbness after drinking infusions made with Bajiaolian. The herb was recommended by either traditional Chinese medical doctors or herbal pharmacies for postpartum recovery and treatment of a neck mass, hepatoma, lumbago and dysmenorrhoea. Podophyllotoxin is one of the main ingredients of the Bajiaolian root. The clinical manifestations observed in our patients were consistent with podophyllum intoxication. Podophyllotoxin intoxication usually results from the accidental ingestion or topical application of podophyllum resin. However, these cases of Bajiaolian intoxication were iatrogenic and results from 'therapeutic doses' of Bajiaolian cited in the textbooks of traditional Chinese medicine.