Cases reported "wasting syndrome"

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1/7. Wasting of the small hand muscles in upper and mid-cervical cord lesions.

    Four patients are described with destructive rheumatoid arthritis of the cervical spine and neurogenic wasting of forearm and hand muscles. The pathological connection is not immediately obvious, but a relationship between these two observations is described here with clinical, radiological, electrophysiological and necropsy findings. Compression of the anterior spinal artery at upper and mid-cervical levels is demonstrated to be the likely cause of changes lower in the spinal cord. These are shown to be due to the resulting ischaemia of the anterior part of the lower cervical spinal cord, with degeneration of the neurones innervating the forearm and hand muscles. These findings favour external compression of the anterior spinal artery leading to ischaemia in a watershed area as the likeliest explanation for this otherwise inappropriate and bizarre phenomenon. ( info)

2/7. X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.

    X-linked lissencephaly with abnormal genitalia (XLAG) is a rare disorder caused by mutations in the aristaless-related homeobox (ARX) gene. We report on the clinical data of a boy with a 1-bp deletion (790 delC) resulting in a frame shift in the ARX gene and prolonged survival until age 18 months. Similar to other patients, the boy showed postnatal microcephaly, hypothalamic dysfunction, intractable neonatal seizures, and chronic diarrhoea. In addition, he suffered from exocrine pancreatic insufficiency and renal phosphate wasting became apparent from age 5 months, both of which have not been described previously in XLAG. This allows us to speculate that the phenotype of XLAG is more complex than hitherto known and may include renal phosphate wasting which might not have been observed in other patients due to early death. ( info)

3/7. Primary hyperparathyroidism presenting with musculoskeletal manifestations in a young patient: a case report.

    A 21 year old female patient was admitted to Tikur Anbessa Hospital with a diagnosis of primary hyperparathyroidism secondary to parathyroid adenoma. Her predominant presentation was with an anterior neck mass, diffuse osteoporosis and myopathy. The diagnosis was suggested by her clinical symptoms, physical findings, Laboratory studies and radiological survey. The tissue biopsy was also compatible with of the diagnosis. The parathyroid gland was removed surgically and the patient improved significantly. Primary hyperparathyroidism is extremely rare in young patients and presentation with myopathy is even more rare. Routine determination of serum calcium and phosphorus is recommended in patients with such presentations. ( info)

4/7. Cerebral salt wasting in tuberculous meningitis: treatment with fludrocortisone.

    Three cases of cerebral salt wasting complicating tuberculous meningitis are described. diagnosis was based on hyponatraemia associated with high urinary sodium excretion and inappropriately high urine output in the presence of dehydration. Treatment with fludrocortisone resulted in sodium and fluid homeostasis. ( info)

5/7. High concentrations of organochlorines in a patient with kidney cancer and anorexia-cachexia syndrome.

    PURPOSE: To determine persistent organic pollutants in adipose tissue in a patient with kidney cancer. methods: adipose tissue was sampled from the abdominal wall during autopsy of a 75-year old man who had died from a kidney cancer. The concentrations of polychlorinated biphenyls (PCBs), p,p'-dichlorodiphenyltrichloroethane (DDE), hexachlorobenzene (HCB), chlordanes and tetrabromodiphenyl ether (TeBDE) were determined on lipid basis. For comparison results from 29 male population based subjects aged 70-80 years were used. RESULTS: All concentrations except for TeBDE were very high in the patient; sum of PCBs 18 808 ng/g fat (median for controls 997), DDE 14 183 (median for controls 751), HCB 424 (median for controls 46), and sum of chlordanes 2 389 (median for controls 62). The patient lost weight from 80 kg to 48 kg when he died, which may have contributed wholly or partly to the very high concentrations of organochlorines. CONCLUSION: Changes in weight must be recorded in cancer patients and the concentrations of persistent organic pollutants should be normalized to weight. The concentrations in this patient were 10- to almost 40-times higher than in the controls. Such very high concentrations may give clinical symptoms in the final stage of a wasting cancer patient. ( info)

6/7. Substitution of testosterone in a hiv-1 positive patient with hypogonadism and Wasting-syndrome led to a reduced rate of apoptosis.

    Peripheral blood mononuclear cells from HIV infected individuals develop in vitro apoptosis to a much higher extent than healthy donors. Aside from the direct cytopathic effect of HIV, programmed cell death can be induced by such cytokine system imbalance as seen with increased levels of TNF-alpha or the Th1-->Th2-cytokine shift. However, wasting syndrome, which occurs in the majority of AIDS patients is associated with an enhanced expression of TNF-alpha and IL 6 as well. A 37-year-old AIDS patient suffering from wasting syndrome and hypogonadism was treated with 1 alpha-dihydrotestosterone. The rate of apoptotic peripheral blood mononuclear cells was determined before, during and after this therapy. After three weeks of androgen substitution therapy, the rate of spontaneous apoptosis was reduced to 34% and the ionomycin induced apoptosis to 52% of the rate of apoptotic cells at the beginning of the therapy. Moreover, the general and nutritional condition improved remarkably. Thus, we suggest that the use of anabolic drugs for the treatment of AIDS-associated wasting-syndrome would not only improve their general and nutritional condition, but might also prevent the loss of CD4 T-cells through an inhibition of apoptosis. ( info)

7/7. factor xiii insufficiency in a patient with severe psoriasis vulgaris, arthritis, and infirmity.

    factor xiii (FXIII) links soluble fibrin monomers and collagen fibres to stable fibrin connections. Deficiency of FXIII, caused by dyspoiesis or increased consumption, results in a bleeding tendency and wound healing complications. Although the decrease of FXIII and successful replacement in patients with wound healing complications after surgery have been described by several authors, it is rarely considered that patients with autoimmune diseases, bleeding or healing complications may suffer from FXIII deficiency. We report a patient with severe psoriasis vulgaris generalisata with large, painful erythemas, bleeding tendency, joint contractions and infirmity, whose FXIII activity was 19%. After successful replacement the bleeding tendency vanished, and a marked improvement of skin and joint mobility allowed mobilisation and administration of physical therapy, whereby some independence and mobility were restored to the patient. ( info)

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