1/11. Fatal tetanus in a drug abuser with "protective" antitetanus antibodies.tetanus is a rare disease in the united states. From 1995-1997, the average annual incidence of tetanus was 0.15/1,000,000 population. Injecting-drug users, particularly those who use heroin, are among the highest risk population for acquiring tetanus. We present a case of an injecting-drug user who was seen in the emergency department with worsening diffuse midthoracic back pain and spasms. He subsequently developed acute respiratory failure and central nervous system hypoxic injury. serum obtained before administration of tetanus immune globulin showed a tetanus antibody titer greater than 16 times the level considered protective. Because of limited human data on the minimum protective level of neutralizing antibody, as well as reports of tetanus among individuals with "protective" antibody titers, the diagnosis of tetanus should not be excluded solely on the basis of antitetanus titers.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/11. Bilateral sequential lung transplant for ectodermal dysplasia.A case of bilateral sequential lung transplantation for anhidrotic ectodermal dysplasia is presented. The patient was a 16-year-old male with end-stage lung disease secondary to chronic severe respiratory infection. Although a relatively rare disease, the common association of fatal pulmonary compromise in those affected with this disorder warrants consideration of lung transplantation as a viable therapeutic option.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/11. Subglottic leiomyoma: report of a case.Subglottic leiomyoma is a rare disease. We encountered such a tumor in a 7-year-old boy who was transferred to our hospital with respiratory distress and hoarseness of 2 week's duration. Stridor was noted and flexible fiberoscopy revealed a huge mass over the subglottis. The tumor was removed endoscopically. Pathologic examination disclosed a leiomyoma. The patient recovered well and no recurrence was noted during 17 months of follow-up. Although subglottic leiomyoma is rare, it should be included in the differential diagnosis of a subglottic tumor.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/11. Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis.Pontocerebellar hypoplasia type 1 is a rare disease characterized by pontocerebellar hypoplasia and anterior horn cell degeneration. The oldest reported child died at the age of 26 months. Two siblings were diagnosed with pontocerebellar hypoplasia type 1 after the death of the second sibling at 40 months of age from respiratory failure and the unexpected finding of anterior horn cell degeneration on her autopsy. The older sibling was a boy who was labeled as having cerebral palsy. He died at 14 months of age from pneumonia following a clinical course similar to his sister's, who was born 5 years after his death. Both siblings had significant global developmental delay with axial and peripheral hypotonia initially. Peripheral hypertonia with brisk reflexes developed later but were absent prior to death. Extensive investigations in the second sibling ruled out known metabolic (including congenital disorders of glycosylation) and mitochondrial diseases using skin fibroblast cultures and enzyme analysis. genetic testing for Friedreich's ataxia; neuropathy, ataxia, and retinitis pigmentosa (NARP); spinal muscular atrophy; and spinocerebellar ataxia type 1, 2, 3, 6, 7, and 8 gene abnormalities was negative. The elecroretinogram showed a previously unreported finding of abnormal and progressive rod/cone response. Our cases provide clinical and previously unreported electroretinographic evidence for neurodegeneration in pontocerebellar hypoplasia type 1 and call for the expansion of the disease phenotype.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/11. Anterior cervicothoracic meningocele treated by cystopleural shunt. Case report and review of the literature.Anterior meningocele is a rare disease which is commonly observed in the sacral region. Anterio cervicothoracic meningocele is generally diagnosed in adult age and there are few reports in infancy. Different treatment procedures are performed such as ligation, resection and wrapping. The case of a 9-month-old male infant with acute respiratory distress and cyanosis is described. He had also recurrent lung infections for 3 months. The magnetic resonance imaging revealed an anterior cervicothoracic meningocele which was compressing the lung, aorta, esophagus and trachea associated with skeletal abnormalities and C2 - C7 syringohydromyelia. There was no evidence of neurofibromatosis. He was submitted to thoracotomy and treated with cystopleural shunt without valve system. Postoperatively his respiratory distress improved dramatically. Radiologically, the size of meningocele decreased and the syringomyelic cavity disappeared. There was no evidence of recurrence during his followup. Cystopleural shunt procedure is a reliable, simple and effective treatment modality in anterior cervicothoracic meningocele cases. This treatment regimen prevents possible neural damage and also treatments to the associated anomalies such as syringohydromyelia.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/11. 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 = 1keywords = rare disease (Clic here for more details about this article) |
7/11. Idiopathic infantile arterial calcification: unusual features.Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology, which causes widespread arterial calcification and usually leads to early death from coronary arterial occlusion. Periarticular calcification has been reported in some cases. Two new cases are reported. In addition to the usual features of the disease, one was found to have ear-lobe calcification and the other an aortic aneurysm and coarctation of the aorta. Therapy with diphosphonate was apparently successful in one patient.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/11. infant botulism--the first reported case from queensland.infant botulism is a rare disease with previous reports in australia originating from its southern states. The first case to be recognized from queensland is described in a four-month-old white girl. Complications included respiratory failure, the syndrome of inappropriate antidiuretic hormone secretion, urinary tract infection and autonomic dysfunction.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/11. Pulmonary lymphangiomyomatosis.Pulmonary lymphangiomyomatosis is a rare disease of smooth muscle proliferation in the walls of lymphatic vessels and in the interstitial areas of the lungs. It only affects women of reproductive age. The majority of patients die from respiratory failure within 10 years. A new observation of pulmonary lymphangiomyomatosis is reported in a woman of 36 years. The disease was discovered at an advanced stage of respiratory failure. Left-sided pleurectomy and treatment with medroxy-progesterone and tamoxifen did not improve the patient's condition.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/11. Congenital histiocytosis X.Congenital histiocytosis X involving multiple organs is a rare disease that causes rapid mortality in intrauterine and neonatal life. The diagnosis of histiocytosis X (Letterer-Siwe disease) should be considered in a neonate with vesiculated crusting skin lesions. We present clinical, radiographic and histopathological findings in a neonate with congenital histiocytosis who died of respiratory failure due to diffuse infiltration of lungs with histiocytic cells.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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