Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Infant botulism is caused by intestinal colonization by Clostridium botulinum, C. barati or C. butyricum. Infant botulism has only rarely been reported outside the USA. A 3-month-old boy developed constipation, lethargy, feeding difficulties and descending, severe, symmetric weakness. He was breastfed but had also been fed honey. Supportive care led to complete recovery. The serum was positive for C. botulinum toxin type A-F (mouse toxin neutralization assay). A strain of C. botulinum producing toxin type A and E was identified in the stool. C. botulinum was identified in a jar of honey of the same brand as the honey fed to the patient.
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PMID:Infant botulism. The first culture-confirmed Danish case. 941 10

Primary hypothyroidism, other than cases of endemic goiter, has rarely been described in Africa. We conducted a retrospective study of the patients admitted to our hospital unit between 1985 and 1996. The inclusion criteria were clinical signs of hypothyroidism and low levels of thyroid-stimulating hormone. We investigated socio-demographic, clinical (hypometabolic syndrome, cutaneomucal syndrome, muscular syndrome) and etiological (spontaneous thyroid atrophy, thyroidectomy, multinodular goiter) factors. Overall, our study population contained 37 cases, 8 men and 29 women. The mean age of the men was 40.8 +/- 19.2 years and that of the women was 41.5 +/- 14.5 years. Eighteen patients (about 50%) lived in the suburbs, 25% of patients were from urban areas and 25% from rural areas. The associated clinical signs were: 1) hypometabolism: constipation (51% of cases), bradycardia (45%), physical asthenia (40%), sleeping during the day (32%), frilosity (35%); 2) cutaneomucal syndrome: hoarseness (48%), alopecia (32%), facial puffiness (27%), macroglossia (24%), hypoacousia (21%), weight gain (18%), dry skin (16%), pallor (2%); 3) muscular syndrome was rare: myalgia (4 cases), muscle weakness (2 cases). Mean total cholesterol concentration was 2.54 +/- 0.75 g/l; mean total T3 was 1.027 +/- 0.84 nmol/l; mean total T4 was 16.70 +/- 16.89 nmol/l; mean TSH concentration, measured by radiometry, was 63.74 +/- 51.01 mIU/l. The etiology was goiter in 13 cases, thyroidectomy (11 cases) and spontaneous thyroid atrophy (13 cases). Thus, primary hypothyroidism does occur in African hospitals, particularly in Senegal. This disease, which has traditionally been reported in public health studies of endemic goiter, also occurs in cosmopolitan African environments.
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PMID:[Clinical characteristics of primary hypothyroidism in Dakar. Apropos of 37 cases]. 948 33

We present the case of a young man with 3-month history of generalized weakness and lethargy, constipation, weight gain, and swelling in the lower extremities. He was found to have an elevated serum creatinine of 203 mumol/l (2.3 mg/dl), markedly elevated TSH, severe hypercholesterolemia, hyperuricemia, a 24-hour urine creatinine excretion rate of 16.8 mmol/d (1.9 g/d), a creatinine clearance of 58 ml/min, and a uric acid excretion rate of 4.2 mmol/d (700 mg/d). With the impression of primary hypothyroidism, the patient was started on levothyroxine supplementation at which point he developed a classic gouty arthritis of right first metatarsophalangial joint. Six weeks after thyroid replacement therapy his serum creatinine had declined to 124 mumol/l (1.4 mg/dl), and 24-hour urine creatinine excretion rate declined to 11.5 mmol/d (1.3 g/d) with an estimated creatinine clearance rate of 65 ml/min. This was accompanied by reduction in serum uric acid and cholesterol levels, and a decline in uric acid excretion rate. Eighteen months later his creatinine had further declined to 88.4 mumol/l (1.0 mg/dl).
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PMID:Reversible renal insufficiency, hyperuricemia and gouty arthritis in a case of hypothyroidism. 949 Dec 89

Four types of hepatic porphyria (acute intermittent porphyria; hereditary coprophorphyria; variegate porphyria; delta-aminolevulinate dehydratase deficiency porphyria) present clinically with an identical neurological syndrome. Symptoms include severe abdominal pain, vomiting, constipation, hypertension, tachycardia, and bladder dysfunction. These symptoms have been ascribed to autonomic neuropathy. Other symptoms are motor weakness and sensory involvement, which correlate with peripheral axonal neuropathy, and mental symptoms occurring without clear morphological findings in the cerebrum. The pathogenetic mechanisms which lead to the neurological dysfunction have remained poorly understood, partly due to the lack of a suitable animal model of these rare disorders. Two hypotheses, the possible neurotoxicity of delta-aminolevulinate (ALA) and heme deficiency in nervous tissue are discussed and corresponding data from porphobilinogen-deaminase deficient mice are presented. The present evidence suggests that multiple mechanisms interact in causing the varied symptoms, including ALA interaction with GABA receptors, altered tryptophan metabolism, and possibly heme depletion in nerve cells.
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PMID:Acute porphyrias: pathogenesis of neurological manifestations. 951 77

A 49-year-old male presented with a rare case of acute cauda equina syndrome secondary to a sequestrated lumbar disc mimicking pure conus medullaris syndrome. He consulted the emergency room of Otsu Municipal Hospital because saddle anesthesia and complete urinary retention which had started 2 days before admission. Additionally, he complained of constipation and impotence. Abnormality of the deep tendon reflexes, sciatica, and leg weakness were not organized. Emergent myelography and subsequent computed tomography revealed a sequestrated disc in the sacrum compressing the lower cauda equina, but not the conus medullaris. Emergent surgical decompression was performed about 60 hours after the onset. The patient almost fully recovered from sphincter dysfunction, impotence, and saddle anesthesia 3 months after the operation. When a syndrome like conus medullaris compression is encountered, the lower cauda equina should be examined as well as the conus level. Such cases require urgent diagnosis and treatment.
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PMID:Acute cauda equina syndrome secondary to lumbar disc herniation mimicking pure conus medullaris syndrome--case report. 974 51

Although disorders of thyroid function may cause a wide range of muscle disturbances, an overt myopathy has been rarely reported as an isolated clinical presentation of hypothyroidism. We observed 10 patients (5 males and 5 females) who had been referred to the department of neurology because of muscular fatigability, myalgia, cramps, or proximal weakness. Laboratory investigation showed that all patients had hypothyroidism due to Hashimoto's thyroiditis (atrophic variant in 9/10). Classic symptoms/signs of hypothyroidism such as lethargy, constipation, cold intolerance, myxedematous facies, and/or bradycardia were absent, as assessed independently by the three coauthoring thyroidologists. Muscular complaints improved greatly and then disappeared after substitutive levothyroxine treatment. Muscle biopsy revealed nonspecific changes. Nicotinamide adenine dinucleotide reductase (NADH-TR)-hyporeactive cores were present in two patients (10% and 90% of type 1 fibers). On electron microscopy, the core areas showed disorganized myofibrils, Z-band streaming, rod formation, and paucity of mitochondria and glycogen granules. Desmin intermediate filaments were overexpressed only in some cores. The similarity of the pattern of desmin expression between hypothyroid cores and target lesions of denervated fibers supports the hypothesis that, at least in some of our patients, myopathy was the result of an impaired nerve-mediated action of thyroid hormones on skeletal muscle. Our observations suggest that an isolated myopathy as the sole manifestation of hypothyroidism is not a rare event. We postulate that our cases may constitute a peculiar subgroup of Hashimoto's thyroiditis patients: (1) the strikingly abnormal F/M ratio of 1:1; (2) the relatively younger age; (3) the rarity of the goitrous variant; (4) the unusual finding of antithyroglobulin (Tg-Ab) > antithyroid peroxidase (TPO-Ab). Thorough evaluation of thyroid function is appropriate in patients with myopathy of uncertain origin.
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PMID:Myopathy as the persistently isolated symptomatology of primary autoimmune hypothyroidism. 984 19

We report a case of systemic sclerosis (SSc) complicated with benign pneumoperitoneum without apparent pneumatosis cystoides intestinalis (PCI). A 43-year-old woman was admitted to our hospital because of prominent abdominal distension in April 1997. Raynaud's phenomenon has been detected since 1991. She was suffering from recurrent diarrhea, constipation, and subileus. The diagnosis of SSc was made in 1996 based on the sclerosis in her face, forearms, and chest, and hypomotility of the esophagus. On admission, she presented no signs of peritoneal irritation. The laboratory data revealed that white blood cell count was 7,400/mm3 and C-reactive protein was 0.1 mg/dl. Chest and abdominal roentgenograms showed massive free air under the diaphragm, dilatation of small and large intestine, and air-fluid level. PCI was not apparent. Pneumoperitoneum was improved after four weeks with intravenous hyperalimentation. But she presented recurrent severe diarrhea and high fever whenever she tried to take food orally. Klebsiella pneumoniae was proved in her jejunal juice by bacteriologic examination. Intravenous prostaglandin F2 alpha and oral fosfomycin calcium intake made her condition better. Benign pneumoperitoneum without PCI is rarely reported in the patients with SSc. In her condition, weakness of intestinal wall, hypomotility of intestine, unusual bacterial overgrowth, and elevated intraluminal pressure made intraluminal gas go through the wall of the fragile intestine of SSc. As operation of intestine of SSc usually cause miserable outcome, pneumoperitoneum accompanied with SSc even if PCI is apparent or not must be treated with conventional manner while there is no signs of peritoneal irritation.
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PMID:[Pneumoperitoneum with systemic sclerosis]. 1004 21

Botulism in infants, unless recognized early, is associated with high mortality and morbidity. The diagnosis is suspected when infants present with sudden onset of weakness, respiratory failure, and constipation and is confirmed by demonstration of botulinum toxin in stool several weeks later. Electrodiagnosis allows quick and reliable confirmation of botulism. Low-amplitude compound muscle action potentials, tetanic or post-tetanic facilitation, and the absence of post-tetanic exhaustion support the diagnosis. Two infants with confirmed botulism did not exhibit the characteristic electrodiagnostic features, demonstrating the pitfalls in electrodiagnosis of infantile botulism.
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PMID:Infantile botulism: pitfalls in electrodiagnosis. 1101 96

Polya partial gastrectomy was performed for peptic ulcer in a previously healthy woman aged 28 years. She complained afterwards of a variety of non-specific symptoms including weakness, tiredness, debility, slowness of walking, poor appetite and constipation. Within ten years her back became bent. She was treated for intercurrent hypertension and epilepsy. Bone fractures on low-impact trauma occurred in her fifties. At 57 years, she was unable to care for herself and had to be admitted to a nursing home. She could still walk slowly with the aid of a stick. For three months at the age of 65 years, she was unable to rise from her chair. Investigations disclosed severe post-gastrectomy bone disease. At no time had she complained of bone pains.
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PMID:Post-gastrectomy bone disease undiagnosed for forty years. 1049 25

A 70-year-old woman noted paresthesia ascending from both legs to her thighs 27 months previously. She also suffered from urinary urgency and incontinence. Thereafter, weakness in both legs developed and gradually became worse. At the time of admission, a neurological examination revealed diffuse atrophy and mild spasticity in all four extremities, bilateral mild weakness in both upper extremities, and severe weakness in both lower extremities. Her superficial sensation was moderately impaired below the Th 3 level on her right side, and below the Th 4 level on her left side along with a mildly decreased sense of vibration in her left leg. Marked hyperreflexia in all four extremities and bilateral pathological reflexes were also observed. Pollakisurea, urinary incontinence and constipation were also present. Cervical MRI showed a swelling of the spinal cord at the C3 to C7 levels. Inside the spinal cord, low signal intensity lesions were seen on the T1-weighted MRI, and high signal intensity lesions were observed on the T2-weighted MRI, and the rim of the cervical cord was also enhanced by gadolinium-DTPA. MR angiography revealed enlarged and tortuous vessels at the craniocervical junction, thus suggesting the presence of a dural arteriovenous fistula (AVF). Vertebral arteriography demonstrated abnormal vessels at the spinomedullary junction supplied by the right vertebral artery, which drained into the anterior and posterior spinal veins. After surgically treating the dural AVF, the swelling of the spinal cord, the abnormal signals on MRI, and the clinical symptoms all markedly improved. Although most of the spinal dural AVF were located at the thoracic and lumbar levels, the present case was considered to be a very rare case of dural AVF, since it was located at the craniocervical junction and thus led to the development of cervical myelopathy.
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PMID:[A case of cervical myelopathy due to dural arteriovenous fistula at the craniocervical junction]. 1058 29


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