Cases reported "Syndrome"

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1/63. Antiphospholipid antibodies syndrome in 'stroke in young'.

    Antiphospholipid antibodies syndrome has emerged as an important entity responsible for stroke in young. Seven cases of young stroke (< 40 years of age) with mean age of 30.1 years (age range 25-39 years, 2 males and 5 females), who tested positive for antiphospholipid antibodies are being reported. All subjects had completed strokes. Six had arterial ischaemic and one patient had venous stroke. One patient suffered from four episodes, three ischaemic and one intracerebral haemorrhage. Two patients suffered from foetal loss. Generalised tonic clonic seizures occurred in three patients. Deep vein thrombosis was observed in one case. thrombocytopenia was not observed in any case. All the patients had elevated anticardiolipin antibodies (aCL) IgM or IgG, while Lupus anticoagulant (LA) was elevated in 4 cases. Six cases belonged to primary antiphospholipid antibodies syndrome and one to lupus like illness. Oral anticoagulants were administered to maintain a high intensity international normalized ratio (INR). No recurrences were observed during a follow up period of 6-18 months.
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2/63. Dose related growth response to indometacin in gitelman syndrome.

    growth failure is a recognised feature of gitelman syndrome, although it is not as frequent as in bartter syndrome. Indometacin is reported to improve growth in bartter syndrome, but not in gitelman syndrome, where magnesium supplements are recommended. This paper presents 3 sisters with gitelman syndrome who could not tolerate magnesium supplements, and whose hypotension and polyuria were eliminated by taking 2 mg/kg/day indometacin, but who grew poorly. However, increasing the indometacin dose to 4 mg/kg/day improved their growth significantly, without changing their symptoms or biochemistry. Gastrointestinal haemorrhage necessitated the use of misoprostol.
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3/63. Acute myeloid leukemia in TAR syndrome.

    TAR syndrome is a rare inherited autosomal recessive disorder with a mortality rate of 30-40% mainly as a result of haemorrhage, in the first year of life. Most of the infants recover from the effects of thrombocytopenia and associated haematological complications with the modern medical care. Very rarely, the outcome is fatal, with the occurrence of acute leukemias.
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4/63. factor vii deficiency in a patient with retinal arteriolar tortuosity syndrome.

    PURPOSE: To report a pedigree with hereditary retinal arteriolar tortuosity with macular haemorrhage and abnormality of the coagulation system. methods: Case report and literature review. RESULTS: A 49-year-old woman was referred due to macular haemorrhage in both eyes. Her 16-year-old son had recurrent retinal haemorrhages which presented at age 16 years and had mild retinal arteriolar tortuosity. Coagulation studies in the son revealed normal activated partial thromboplastin time (APTT), prolonged prothrombin time (PT) and 30% activity of factor VII. CONCLUSIONS: factor vii deficiency may aggravate the haemorrhages in retinal arteriolar tortuosity syndrome. We therefore suggest conducting routine coagulation studies (PT, APTT) in all patients with retinal arteriolar tortuosity syndrome. Determination of factor VII activity is warranted only in patients with normal APTT and prolonged PT.
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keywords = haemorrhage
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5/63. Diffuse muscular haemorrhage as presenting sign of juvenile systemic lupus erythematosus and lupus anticoagulant hypoprothrombinaemia syndrome.

    Lupus anticoagulants are closely related to systemic lupus erythemathosus (SLE) and to thrombotic events. We describe a 12 year-old girl with a bilateral intramuscular haemorrhage of the gastrocnemius muscles as her main initial presentation of juvenile SLE. Laboratory work-up revealed lupus anticoagulant-hypoprothrombinaemia syndrome (LAHS) with very low levels of factor II due to autoantibodies. She showed a good initial clinical and laboratory response to prednisone therapy, however steroid dependency developed. To the best of our knowledge, this is the first case reported of juvenile SLE presenting with LAHS.
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keywords = haemorrhage
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6/63. Three cases of hyperperfusion syndrome identified by daily transcranial Doppler investigation after carotid surgery.

    BACKGROUND: cerebral hyperperfusion syndrome (HS), occurs in 0.5-1% of patients undergoing carotid endarterectomy (CEA), and may result in intracerebral haemorrhage and death. Aim: to diagnose HS by means of postoperative Transcranial Doppler (TCD). methods: between 1998 and 2001 nearly all 112 patients who underwent CEA were monitored for four days postoperatively by Transcranial Doppler. RESULTS: there were 3 patients with HS. All three showed TCD abnormalities hours before developing symptoms. One patient developed a full blown HS. Presumably, symptoms in the other two patients could be prevented by timely starting or restoring anti-hypertensive treatment. CONCLUSION: daily TCD investigation in all patients undergoing CEA seems an effective strategy for the presymptomatic detection of HS.
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keywords = haemorrhage
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7/63. Anaesthetic management of splenectomy in Evan's syndrome during pregnancy with pregnancy induced hypertension.

    The management of idiopathic thrombocytopenic purpura (ITP) during pregnancy, especially with ongoing bleeding diathesis, has not been highlighted sufficiently in the literature. Aortocaval compression and reduction in uteroplacental circulation resulting in foetal hypoxia and acidosis, Mendelson's syndrome due to gravid uterus, trauma to airway with resultant haemorrhage and aspiration into lungs, compromised airway due to short neck, anasarca and heavy breast, limitation in using invasive monitoring and regional anaesthesia and uncontrolled bleeding leading to placental hypoperfusion and foetal hypoxia are some of the important risks. In the present case report, anaesthetic management for splenectomy during pregnancy complicated with pregnancy induced hypertension and bleeding diathesis secondary to ITP is described with reference to above risks.
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keywords = haemorrhage
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8/63. Hyperviscosity syndrome in rheumatoid arthritis with Felty's syndrome: case report and review of the literature.

    Hyperviscosity syndrome (HVS) is characterised by high serum viscosity and the involvement of multiple organs, commonly causing retinal haemorrhage, bleeding diathesis, pulmonary hypertension, congestive heart failure (CHF), neurologic deficits and death. It has been reported that HVS is mostly encountered in Waldenstrom's macroglobulinaemia (80%-90% of all HVS cases) and occasionally in multiple myeloma. HVS in patients with connective tissue diseases (CTD) has rarely been reported. Of 28 cases of HVS reported in patients with CTD, 19 were with seropositive rheumatoid arthritis (RA). However, only six of these 19 cases had Felty's syndrome. Here we report another case of HVS in a patient with RA as well as Felty's syndrome.
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ranking = 1
keywords = haemorrhage
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9/63. Blue rubber bleb nevus syndrome and gastrointestinal haemorrhage: which treatment?

    PURPOSE: To describe a paediatric case of "Blue rubber Bleb nevus Syndrome" (BRBNS) or Bean's syndrome, a rare systemic disorder characterised by cutaneous and gastrointestinal vascular malformations that often lead to overt life-threatening gastrointestinal bleeding or occult blood loss with severe anaemia and iron deficiency. CASE REPORT: A 6-year-old girl with multiple characteristic cutaneous vascular lesions was admitted for a massive rectal bleeding. A few months previously she was endoscopically treated for gastric angiomas which developed into melaena. Preoperative investigations revealed the recurrence of gastric lesions. At laparotomy, more than 25 angiomas of the GI tract were found. Multiple intestinal resections were carried out. RESULTS: No intraoperative or postoperative problems occurred and the girl is completely healthy without further bleeding after a follow-up period of three years. CONCLUSIONS: BRBNS belongs to the group of vascular venous malformations. Most of the time it occurs sporadically, but it can be inherited as an autosomal dominant trait. Recent analysis identified a locus on chromosome 9 responsible for venous malformations. BRBNS patients present typical skin lesions, with some lesions having a rubber-like nipple appearance; the number of skin and GI lesions and the severity of anaemia are correlated. Treatment is dependent on the extent of gut involvement and the severity of the clinical picture. In the absence of massive bleeding, a conservative treatment will be sufficient; otherwise resections are mandatory, but additional lesions may subsequently develop. Management with electrocautery or laser photocoagulation are usually not effective even if some reports recommend them. Pharmacological treatment is useless. prognosis of BRBNS is unknown.
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ranking = 4
keywords = haemorrhage
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10/63. Fatal envenomation by jellyfish causing Irukandji syndrome.

    We report the first of two recent deaths from Irukandji syndrome. A 58-year-old male tourist was stung on the face and chest by an unidentified jellyfish in shallow water off the Whitsunday islands, queensland. He developed muscle cramps, sweating, anxiety, nausea and hypertension, and died 30 hours later from intracerebral haemorrhage.
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ranking = 1
keywords = haemorrhage
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