1/13. Stridor and difficult airway in an AIDS patient.Kaposi's sarcoma (KS) is the most common malignancy observed in patients with acquired immune deficiency syndrome (AIDS). Although KS involves the head and neck in AIDS patients, difficult airway due to KS in an AIDS patient has rarely been reported in the literature. We report a patient with AIDS and cutaneous KS who developed inspiratory stridor and required an emergent tracheostomy. AIDS patients with cutaneous KS should have an assessment of the upper airway even in the absence of airway-related symptoms. If KS is present in the upper airway, fiber optic and/or radiologic studies are indicated to assess the extent of KS, and to define the appropriate interventions.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/13. Anticholinergic agents for the treatment of "death rattle" in patients with myasthenia gravis.Difficulty clearing upper airway secretions (death rattle) is a frequent problem at the end of life. Treatment often includes the use of anticholinergic drugs. myasthenia gravis is a disease characterized by muscle weakness and fatigue caused by an immune-mediated deficiency of acetylcholine receptors at the neuromuscular junction, and it is treated with anticholinesterase agents. We report the case of a patient dying of myasthenia gravis who had problems with the "death rattle" and who presented a dilemma as to whether the use of anticholinergics would be helpful or would cause deterioration of her myasthenia. This is accompanied by a review of the relevant literature.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
3/13. biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.biotinidase deficiency is an inherited metabolic disorder characterized by inability to recycle protein-bound biotin. It usually presents with ataxia and seizures, though atypical presentations have also been described. We report a 15-month-old boy with profound biotinidase deficiency who presented with laryngeal stridor and subsequently developed severe ataxia and lactic acidosis. Subsequently, it was discovered that the patient's newborn screening test for biotinidase activity had been inconclusive, but confirmatory testing had not been done. brain magnetic resonance imaging showed multiple white matter non-enhancing T2 hyperintensities, which largely resolved following 6 months of biotin therapy; however, there was residual deafness and mental retardation. CONCLUSION: An argument is made for universal newborn screening in biotinidase deficiency and improved mechanisms for follow-up of positive screens, because delay in diagnosis results in irreversible morbidity, newborn screening is cost effective, and early therapy prevents the neurologic sequelae.- - - - - - - - - - ranking = 4731.3591000954keywords = biotinidase deficiency, biotinidase, deficiency (Clic here for more details about this article) |
4/13. biotinidase deficiency: a rare cause of laryngeal stridor.A case of a child with a biotinidase deficiency who had a laryngeal stridor as a leading symptom is presented. This rare disease is distressing for diagnosis but easily treatable, if recognized. This condition, unless suspect clinically, could easily be overlooked and unnecessary tracheotomy could be done.- - - - - - - - - - ranking = 2156.96347094keywords = biotinidase deficiency, biotinidase, deficiency (Clic here for more details about this article) |
5/13. A syndrome of hypoplastic sinuses, hydrocephalus, bronchiectasis, and hypogammaglobulinemia with functional antibody deficiency in twin girls.BACKGROUND: A variety of syndromes are known to be associated with immune deficiency, some as a major part of the syndrome and some as an occasional finding. OBJECTIVES: To report a newly defined syndrome of hydrocephalus, hypoplastic sinuses, cartilaginous webbing of the bronchi, bronchiectasis, and hypogammaglobulinemia with functional antibody deficiency in identical twin girls. methods: spirometry, radiography, computed tomography (CT), bronchoscopy, and laboratory tests were performed for diagnosis. RESULTS: A girl (twin A) was evaluated at the age of 7 years for chronic cough and wheeze that worsened with exercise. hydrocephalus had been diagnosed a year before evaluation. She was treated for cough variant asthma and was lost to follow-up until the age of 10 years. The cough had worsened progressively, and dyspnea was now apparent. spirometry was consistent with reversible airway obstruction. A chest radiograph was suggestive of bronchiectasis. A chest CT scan showed bilateral upper lobe bronchiectasis. Hypogammaglobulinemia and functional antibody deficiency were noted. A CT scan of the sinuses revealed aplasia or severe hypoplasia of all the paranasal sinuses. bronchoscopy revealed a grossly abnormal bronchial structure and atrophic-appearing bronchial mucosa. Twin B also had a history of hydrocephalus. Although she had no respiratory symptoms, chest CT revealed bronchiectasis, and she had obstruction on spirometry. Laboratory analysis revealed hypogammaglobulinemia and functional antibody deficiency. She became symptomatic 2 years after twin A. CONCLUSIONS: This is a newly reported syndrome of hydrocephalus, absent sinuses, abnormalities of the bronchi, and functional antibody deficiency, which initially presented as cough and wheeze.- - - - - - - - - - ranking = 9keywords = deficiency (Clic here for more details about this article) |
6/13. Airway emergency in tuberculosis.We report a case of acute fatal stridor in a patient newly diagnosed with pulmonary tuberculosis and human immunodeficiency virus (hiv) infection. No evidence of direct airway encroachment was identified at autopsy. We review mechanisms by which tuberculosis may cause stridor and discuss the implications of co-existent hiv infection with reference to the recent literature. The report highlights the need for recognition of acute or evolving airway compromise as an uncommon manifestation of tuberculosis.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
7/13. biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.An unusual clinical course of a patient with biotinidase deficiency, causing Leigh syndrome, is reported. Laryngeal stridor was the major presenting symptom followed by progressive neurologic deterioration and death at the age of 21.5 mo. Absence of skin and hair abnormalities as well as of organic aciduria delayed the correct diagnosis. Necropsy revealed subacute necrotizing encephalopathy (Leigh syndrome). Carboxylase activities (propionyl CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase) measured in lymphocytes 1 day before death were decreased to 10% of normal values. Propionyl-CoA carboxylase was shown to be the only stable carboxylase in human postmortem tissue; in our patient it was moderately decreased in postmortem liver (29% of control) and kidney (42%), but severely decreased in brain (3%). These findings might explain the severity of neurological symptoms in the absence of marked organic aciduria. They indicate that in biotinidase deficiency the CNS may become biotin depleted earlier and more severely than other organs. biotinidase deficiency should be included in the differential diagnosis of Leigh syndrome and of unexplained respiratory problems.- - - - - - - - - - ranking = 4310.9269418801keywords = biotinidase deficiency, biotinidase, deficiency (Clic here for more details about this article) |
8/13. Extrinsic tracheal compression--a newly described complication of acquired immune deficiency syndrome (AIDS).An AIDS patient was seen in respiratory difficulty with a superior mediastinal mass. Examination revealed a candida fungoma. To the best of our knowledge, this is the only case of its nature. The differential diagnosis and management of this patient are presented in detail.- - - - - - - - - - ranking = 4keywords = deficiency (Clic here for more details about this article) |
9/13. Laryngeal tuberculosis. A cause of stridor in children.The number of tuberculosis (TB) cases reported in the united states has been on the decline for the last three decades. This trend has been dramatically reversed in the past few years, largely owing to the human immunodeficiency virus epidemic. Laryngeal TB, while well recognized in the adult population, is a rare disease in children. Only six cases have been described in the world literature since 1960. We describe three children with laryngeal TB who presented with stridor. One child required an emergency tracheotomy for control of the airway. The pathogenesis of laryngeal TB in children is postulated to differ from that in adults. In children primary infection of the larynx occurs, while in adults, laryngeal infection is secondary to pulmonary disease. All patients had triple anti-TB chemotherapy for 1 year. Laryngeal TB, although rare, may be seen more frequently in the near future and the diagnosis should always be considered.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/13. Stridor in patients with hiv infection.The immunodeficiency which results from hiv infection is associated with a range of opportunistic infections and tumors which may present with the symptoms of upper airways disease. This paper presents three cases of stridor from different causes in patients with hiv infection, all of whom recovered following treatment. The management of this problem requires consideration of the likely aetiology which, in those with advanced immunodeficiency, includes bacterial and fungal laryngitis and epiglottitis as well as rapidly growing laryngeal tumours. Recommendations for the treatment of those with hiv infection who present with severe or rapid-onset stridor should include a combination of aggressive airway intervention and broad-spectrum antibacterial and antifungal agents. Laryngeal biopsy for histology and culture is particularly important for those patients who fail to respond to the aforementioned treatment.- - - - - - - - - - ranking = 2keywords = deficiency (Clic here for more details about this article) |
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