1/267. Myopathy with hexagonally cross-linked tubular arrays: a new autosomal dominant or sporadic congenital myopathy.We describe a slowly progressive myopathy with unique crystalloid inclusions in type 2 muscle fibers in a father and his son, as well as one more unrelated individual. The inclusions were strongly eosinophilic and purple by the Gomori method. They were composed of vesicular profiles, approximately 20 nm in cross-diameter, connected by radially arranged double spokes arising at 60 degrees angles. The inclusions were not related to any normal cellular organelle. Extensive immunohistochemical studies failed to reveal their chemical nature. It is suggested that this is a new congenital myopathy with characteristic intracytoplasmic inclusions, occurring sporadically or with an autosomal dominant pattern of inheritance.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/267. The syndrome of carnitine deficiency.Three cases of lipid storage myopathy and carnitine deficiency are presented. Two had a fatal course and were insensitive to cortisone and carnitine-replacement therapy. The two fatal cases had lipid accumulation in organs other than the skeletal muscles and carnitine was reduced in plasma, skeletal muscles, heart and liver. fibroblasts from one of these "generalized" cases of carnitine deficiency were grown from a skin biopsy. carnitine level, fatty acids uptake and oxidation were not appreciably different between the patients' fibroblasts and those of controls.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
3/267. An unusual manifestation of diabetes mellitus.MEDICAL history: Type 2 diabetes mellitus for five years; unexplained 35-lb weight loss three years ago; Bell's palsy on right side many years ago. MEDICATIONS: glipizide, 10 mg/day. family history: Father died of leukemia at age 65; mother has kidney stones; no diabetes or neuromuscular disease. SOCIAL history: insurance salesman; heterosexual, promiscuous, uses condoms; smokes (25 pack years); does not drink. physical examination: Well-nourished, well developed, not in acute distress; had difficulty rising from a sitting position because of right lower extremity weakness. blood pressure, 154/74; pulse, 88; temperature, 36.6 degrees C; respiratory rate, 16. head, eyes, ears, nose, and throat: normal. neck: normal. Heart: S4. Lungs: clear. abdomen: mildly obese. extremities: no cyanosis, clubbing, or edema; atrophy and weakness of right thigh and both calves; wide-based gait; able to walk on toes but not heels. Neurologic responses: cranial nerves intact; deep tendon reflexes, 1 symmetrically; plantar reflexes, flexor bilaterally. skin: macular rash in sun-exposed areas. LABORATORY FINDINGS: Hemoglobin, 13.2 gm/dL; mean corpuscular volume, 80 micron 3; white blood cell count, 7,200/mm3 (normal differential); platelet count, 137,000/mm3. serum: electrolytes, normal; blood urea nitrogen, 18 mg/dL; creatinine, 0.8 mg/dL; glucose, 308 mg/dL; total protein, albumin, liver enzymes, and creatine kinase, normal. urine: 1 glucose. Venereal disease test: nonreactive; hiv test: negative. DIFFERENTIAL DIAGNOSIS: dermatomyositis; heavy-metal poisoning; diabetic amyotrophy. HOSPITAL COURSE: The patient was given 50 mg/day of oral amitriptyline to alleviate the painful paresthesias and was switched to 20 U/day of subcutaneously injected neutral protamine Hagedorn (NPH) insulin to normalize the blood glucose level. Histologic studies of skin and muscle showed sun damage and neuropathic changes, respectively. There was no evidence of vasculitis. Screening for heavy-metal toxins produced negative results.- - - - - - - - - - ranking = 17.935251190486keywords = nerve (Clic here for more details about this article) |
4/267. Muscle function in a patient with Brody's disease.Adductor pollicis muscle function of a 21-year-old man with genetically confirmed Brody's disease (sarcoplasmic reticulum [SR] -Ca2 ATPase deficiency) was investigated to study the possible effects of reduced SR-Ca2 ATPase activity on muscle relaxation and force production. Following maximal electrical activation of the ulnar nerve, tetanic muscle half-relaxation time was greater in the patient (246 /- 10 ms) than control subjects (97 /- 4 ms, n = 8). During repetitive activation, there was a similar decline in maximal shortening velocity in the patient and controls, indicating a comparable reduction in cross-bridge cycling rate. The finding that the slowing of relaxation was greater in the patient (329 ms versus 138 /- 20 ms) suggests that there was a further reduction of SR-Ca2 ATPase activity in the patient's muscle during fatigue. Following a voluntary contraction, involuntary activity of the antagonist muscles facilitated force decline and masked the impaired relaxation in the patient. This antagonist-induced relaxation indicates that it might be difficult to establish impaired muscle relaxation with voluntary contractions.- - - - - - - - - - ranking = 17.935251190486keywords = nerve (Clic here for more details about this article) |
5/267. riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.Two unrelated adult males, aged 36 (patient 1) and 25 (patient 2) years, presented with subacute carnitine-deficient lipid storage myopathy that was totally and partly responsive to riboflavin supplementation in the two patients, respectively. plasma acyl-carnitine and urinary organic acid profiles indicated multiple acyl coenzyme a dehydrogenase deficiency, which was mild in patient 1 and severe in patient 2. The activities of short-chain and medium-chain acyl coenzyme A dehydrogenases in mitochondrial fractions were decreased, especially in patient 2. This was in agreement with Western blotting results. Flavin-dependent complexes I and II were studied by immunoblotting and densitometric quantification of two-dimensional electrophoresis with comparable results. Complex I was present in normal amounts in both patients, whereas complex II was decreased only in the pretherapy muscle of patient 2. Flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) concentrations in muscle and isolated mitochondria, and the activity of mitochondrial FAD pyrophosphatase, showed that patient 1 had low levels of FAD (46%) and FMN (49%) in mitochondria, with a significant increase (P < 0.01) in mitochondrial FAD pyrophosphatase (273%) compared with controls. Patient 2 had similar low levels of FAD and FMN in both total muscle (FAD and FMN 22% of controls) and mitochondria (FAD 26%; FMN 16%) and normal activity of mitochondrial FAD pyrophosphatase. All of these biochemical parameters were either totally or partly corrected after riboflavin therapy.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
6/267. Acute myopathy of intensive care in a child after heart transplantation.PURPOSE: Acute myopathy of intensive care has been described infrequently in children and never after organ transplantation. We report a case of acute myopathy of intensive care in a child after heart transplantation. CLINICAL FEATURES: An 11-yr-old girl, with no previous medical history, developed acute cardiomyopathy leading to cardiac shock. family history revealed four cases of unidentified myopathy and/or cardiomyopathy. Preoperatively, while muscle biopsy was near normal, myocardial biopsy revealed non specific mitochondrial disorders. A few days after heart transplantation, she developed acute hypotonia and flaccid quadriplegia, consistent with the diagnosis of acute myopathy of intensive care. Nerve conduction studies were normal, electromyography showed myopathic changes and a new muscle biopsy from quadriceps femoris showed severe loss of myosin filaments and ATPase activity in type 2 fibres. A large laboratory screening failed to demonstrate a metabolic disease or a known myopathy. muscle strength recovered progressively in three weeks allowing home discharge. A few months later, she was free of symptoms and muscle biopsy showed full histopathological recovery. CONCLUSION: Acute myopathy of intensive care can occur in children after heart transplantation. It should be suspected in the presence of muscle weakness and difficulty in weaning from ventilatory support. electromyography confirmed a myogenic process and muscle biopsy allowed diagnosis. Full clinical and histopathological recovery usually occur within three weeks.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/267. Continuous bilateral electrophrenic pacing in an infant with total diaphragmatic paralysis.An infant with bilateral diaphragmatic paralysis, etiology undetermined, is presented in whom bilateral intrathoracic phrenic nerve pacemakers were inserted. He was maintained with continuous bilateral electrophrenic pacing for 142 days. A review of the literature by the authors has not revealed any previously reported cases.- - - - - - - - - - ranking = 17.935251190486keywords = nerve (Clic here for more details about this article) |
8/267. Diaphragmatic cramp as a possible cause of noncardiac chest pain and referred mandibular pain.The initial assumption that sudden acute chest pain may be of cardiac origin is justifiable, but when this proves not to be the case the patient is left with little explanation of the cause. It is suggested here that diaphragmatic cramp may be a cause of some undiagnosed noncardiac chest pains associated with mandibular referred pain. The phrenic nerve provides both motor and sensory innervation to the diaphragm, while the trigeminal nerve carries sensation from the mandibular teeth. Both nerves originate in separate nuclei close together in the lower medulla. Interconnections between these nuclei and others higher up in the brain may provide one explanation for this problem.- - - - - - - - - - ranking = 53.805753571457keywords = nerve (Clic here for more details about this article) |
9/267. Type II neurofibromatosis presenting as quadriceps atrophy.A young woman aged 26 years presented with atrophy of the left quadriceps progressing over one year. magnetic resonance imaging (MRI) showed a large lesion of the lumbar plexus compatible with neurinoma. Cerebral MRI revealed a lesion in the right eighth cranial nerve also compatible with neurinoma. On further questioning of the patient, it was learned that her mother had undergone surgery twice for acoustic neurinoma. Type II neurofibromatosis was diagnosed from the basis of clinical picture, neuroimaging findings and family history. This case is unusual for the lack of central nervous system (CNS) symptoms. Expansive radicular lesions compatible with neurinoma should prompt cerebral MRI. Regular examination of family members at risk and early diagnosis can decrease the high mortality associated with this condition.- - - - - - - - - - ranking = 17.935251190486keywords = nerve (Clic here for more details about this article) |
10/267. Ulnar neuropathy resulting from diffuse intramuscular hemorrhage: a case report.The ulnar nerve can be injured in the arm, forearm, and wrist. This report describes a 79-year-old woman who presented to the emergency department with acute lower extremity weakness and vertigo. Her medical history was significant for moderate to severe aortic stenosis, hypertension, and a remote intravascular thrombosis in the right forearm. The patient was diagnosed with a transient ischemic attack and was treated with anticoagulants. Three days after beginning anticoagulation therapy, she developed a diffuse intramuscular hemorrhage in the arm, which compromised predominantly ulnar fibers. The clinical, radiologic, and electrodiagnostic abnormalities are reviewed, and the possible etiologies of ulnar neuropathy are discussed. To our knowledge, this is the first report of ulnar neuropathy secondary to diffuse hemorrhage into the muscles of the arm.- - - - - - - - - - ranking = 17.935251190486keywords = nerve (Clic here for more details about this article) |
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