Journal of medical case reports
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Homozygous sickle cell carriers have an increased perioperative mortality. Some indications may justify an exchange blood transfusion to reduce the proportion of haemoglobin S. The advantages of general blood transfusion in a perioperative setting have not been proven and thus remain controversial. It is not clear whether reducing the proportion of haemoglobin S minimizes perioperative complications or whether patients with sickle cell disease in a stable clinical condition benefit from an exchange blood transfusion in a perioperative setting. ⋯ There is a consensus that imbalances in homoeostasis, including operative procedures, can cause a critical exacerbation of sickle cell disease. The case presented here illustrates a strategy for successfully managing sickle cell disease in the perioperative period to minimize its complications. It is important for the anaesthesiologist to carefully manage pulmonary gas exchange and to ensure sufficient tissue perfusion, balanced fluid resuscitation and normothermia, while keeping in mind the level of organ impairment in order to prevent an acute exacerbation of sickle cell disease.We performed a partial exchange blood transfusion due to the following factors: high haemoglobin S-fraction, anaemia, operating procedure at several sites, and difficult management of body temperature. Esmarch ischemia is an established tool for preventing uncontrolled blood loss. There is no known contraindication for this, but attention must be paid to prevent uncontrolled tissue ischemia and acidosis. The use of regional anaesthesia should be considered for postoperative pain management.
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Teratomas of the sacrococcygeal area are usually diagnosed in infancy and are rarely seen in adults. ⋯ Sacrococcygeal teratomas are rare in adults. A high index of suspicion is important in making an early diagnosis. Rectal examination and radiologic evaluation are also valuable.
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Ornithine transcarbamylase deficiency is the most common hereditary urea cycle defect. It is inherited in an X-linked manner and classically presents in neonates with encephalopathy and hyperammonemia in males. Females and males with hypomorphic mutations present later, sometimes in adulthood, with episodes that are frequently fatal. ⋯ This report expands the clinical spectrum of presentation of ornithine transcarbamylase deficiency to female heterozygotes for the hypomorphic R40H OTC mutation. Although this mutation is usually associated with a mild phenotype, females with this mutation can present with acute decompensation, which can be fatal. Ornithine transcarbamylase deficiency should be considered in the differential diagnosis of unexplained acute confusion, even without a suggestive family history.
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The main clinical manifestations of Whipple's disease are weight loss, arthropathy, diarrhea and abdominal pain. Cardiac involvement is frequently described. However, endocarditis is rare and is not usually the initial presentation of the disease. To the best of our knowledge, this is the first reported case of a patient with Tropheryma whipplei tricuspid endocarditis without any other valve involved and not presenting signs of arthralgia and abdominal involvement. ⋯ Tropheryma whipplei infectious endocarditis should always be considered when facing a blood-culture negative endocarditis particularly in right-sided valves. Although not standardized yet, treatment of Tropheryma whipplei endocarditis should probably include a bactericidal antibiotic (such as doxycycline) and should be given over a prolonged period of time (a minimum of one year).
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Status dystonicus is a rare but life-threatening disorder characterized by increasingly frequent and severe episodes of generalized dystonia that may occur in patients with primary or secondary dystonia. Painful and repetitive spasms interfere with respiration and may cause metabolic disturbances such as hyperpyrexia, dehydration, respiratory insufficiency, and acute renal failure secondary to rhabdomyolysis. Intrathecally administered baclofen, delivered by an implantable pump system, is widely used for the treatment of refractory spasticity. Abrupt cessation of intrathecal baclofen infusion has been associated with a severe withdrawal syndrome comprised of dystonia, autonomic dysfunction, hyperthermia, end-organ failure and sometimes death. The aetiology of this syndrome is not well understood. Status dystonicus describes the episodes of acute and life-threatening generalized dystonia, which occasionally manifest themselves in patients with dystonic syndromes. ⋯ The similarity between the clinical features of the case we present and those reported in connection to abrupt withdrawal of intrathecal baclofen is emphasized. Several drugs, although not intrathecal baclofen withdrawal, have previously been associated with status dystonicus. The similarity between the life-threatening dystonic episode experienced by our patient, and those reported in intrathecal baclofen withdrawal, highlights the possibility that, rather than representing a true physiological withdrawal syndrome, abrupt withdrawal of intrathecal baclofen may simply precipitate an episode of status dystonicus in susceptible individuals. The clinical similarities between the intrathecal baclofen withdrawal syndrome and status dystonicus have not previously been highlighted.