Cases reported "Down Syndrome"

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1/13. Oral treatment of crusted scabies with ivermectin: report of two cases.

    Oral treatment with ivermectin of crusted (Norwegian) scabies in two immunosuppressed patients is reported. There was resolution of symptoms and signs of the cutaneous parasitosis on administration of 18-36 mg ivermectin (total doses) in 2- and 3-week periods of treatment, with remission periods of 3 and 4 months, respectively.
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2/13. A case of difficult airway due to lingual tonsillar hypertrophy in a patient with Down's syndrome.

    In this report, we describe airway management of symptomatic lingual tonsillar hypertrophy in a pediatric patient with Down's syndrome. Besides obstructive sleep apnea, the history included a small atrial septal defect with mild aortic regurgitation and moyamoya disease. anesthesia was induced with IV administration of 1 mg/kg of propofol, followed by inhalation of sevoflurane in 100% oxygen. Muscle relaxants were not used on induction. Rigid laryngoscopy could not visualize the epiglottis because of hypertrophied tonsillar tissue, and mask ventilation became difficult when spontaneous breathing stopped. We avoided using a laryngeal mask airway because of a slight bleeding tendency presumably caused by preoperative antiplatelet therapy. Fiberoptic bronchoscopy through the nasal cavity in combination with jet ventilation successfully identified the glottis and allowed nasotracheal intubation to be accomplished. After lingual tonsillectomy, the patient was extubated on the seventh postoperative day, after supraglottic edema had resolved. Fiberoptic nasotracheal intubation under inhaled anesthesia may therefore be preferable in pediatric or uncooperative patients with symptomatic lingual tonsillar hypertrophy.
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3/13. ethosuximide induced agranulocytosis.

    agranulocytosis caused by ethosuximide is extremely rare in children. Drug-induced agranulocytosis is an unexpected side effect of a drug, and delay in diagnosis of agranulocytosis can result in a fatal outcome. We experienced a case of a 16-month-old male infant with down syndrome in whom fever appeared 16 days after the start of administration of ethosuximide and then severe pneumonia developed. Results of a blood test on admission showed a decreased leukocyte count of 1700/microl, and a hemogram showed that there were no granulocytes. The erythrocyte and thrombocyte counts were within normal ranges. The results of a bone marrow aspiration test showed that there was no production of any types of granulocytes. The patient required mechanical ventilation due to deterioration in his pneumonia and complication with disseminated intravascular coagulation, but the neutrophilic leukocytes began to increase from the 8th day after discontinuation of ethosuximide administration and start of treatment with granulocyte colony-stimulating factor, and the patient survived. The mechanism of onset in this case is thought to have been immunologic. Careful attention should be given to this type of agranulocytosis because of its sudden onset at 1-2 weeks after the start of administration of the causal drug. A drug-induced lymphocyte stimulation test was useful for diagnosis in this case, showing a positive reaction only for ethosuximide.
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4/13. iloprost in persistent pulmonary hypertension of the newborn.

    Aerosolized iloprost is now used as a therapeutic option in the treatment of pulmonary hypertension. We report on the administration of this derivative of prostacycline in treating severe pulmonary hypertension of the newborn. The combination of iloprost instilled endotracheally and inhaled was chosen as a last attempt at treatment in a critically ill patient who did not respond to advanced conventional treatments, including high frequency oscillation and inhalation of nitric oxide. The use of iloprost converted permanently the right-to-left shunting, leading to a substantial improvement in oxygenation.
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5/13. leishmaniasis of the lip in a patient with Down's syndrome.

    Cutaneous leishmaniasis is an endemic protozoan infection in Sardinia, one of the major islands of the Mediterranean Basin. The main causative strain in this country is leishmania infantum, which rarely involves mucocutaneous areas, but has the potential to cause visceral leishmaniasis. An atypical leishmaniasis involving the inferior lip of a 57-year-old female with Down's syndrome was observed at the dermatology Department of Cagliari (italy). The diagnosis was mainly based upon histopathological examination, revealing intra- and extra-cellular leishmania amastigotes. The leishmania infantum zymodeme MON-111 was identified by isoenzymatic characterization. Laboratory investigations revealed a normal complete blood count and biochemistry profile, except for an inverted CD4/CD8 ratio. Treatment with meglumine antimoniate 60 mg/kg/day (Glucantime) intramuscularly for 15 days, followed by intralesional administration 1 ml weekly for 4 weeks led to complete recovery. No relapses were observed at 6-month follow-up. The unusual localization is likely to be a reflection of the uncommon site of inoculation of the protozoa, transmitted by bites from flying vectors. Nevertheless, the presence of Down's syndrome in our patient may have contributed to the atypical presentation by traumatic exacerbation of the lesion, due to repeated auto-induced microtraumas of the inferior lip accompanied by subclinical immunodeficiency. In fact, the specific immune response to Leishmania infection depends on a host-cell-mediated immune response, reported as defective in Down's syndrome patients. Differential diagnosis and early detection of the infection are necessary in order to start effective treatment and prevent more serious complications.
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6/13. chylous ascites: total parenteral nutrition as primary therapeutic modality.

    A female infant with down syndrome and congenital chylous ascites presented at birth with respiratory distress secondary to marked abdominal distension. Total parenteral nutrition (TPN) and paracentesis were the primary therapeutic modality. On hyperalimentation, however, ascites initially recurred, requiring additional paracenteses to improve respiratory distress. The chylous ascites, lymphopenia and hypoalbuminemia were relieved after 10 weeks of TPN administration. We recommend a long-term course (10 weeks) of TPN before an exploratory laparatomy and possible surgical intervention are considered.
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7/13. A case of hyperglycemic hyperosmolar non-ketotic coma during anesthesia: a possible cause of failed re-awakening.

    The case of a non diabetic 6-year-old boy affected by Down's syndrome, who developed hyperosmolar hyperglycemic non-ketotic coma following the infusion of hypertonic dextrose solution during general anesthesia for a surgical procedure for cryptorchidism is reported. Following surgery, the patient remained deeply comatose and generalized seizures occurred. Hyperosmolarity due to hyperglycemia and acidosis were reduced by administration of insulin at low rate, hypotonic saline and sodium-bicarbonate solutions. The patient's clinical conditions promptly improved following normalization of blood glucose levels. An oral glucose tolerance test performed three months later was normal. The authors emphasize the potential risk of hyperosmolar hyperglycemic non-ketotic coma also in non diabetic patients treated with hypertonic dextrose solutions, during surgery events.
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8/13. Cystic lung disease in Down's syndrome: a report of two cases.

    Previously unreported lung disease found at autopsy in 2 young infants with Down's syndrome and congenital heart disease (complete atrioventricular canal malformation with left-to-right shunt) is described. The perinatal and neonatal period was unremarkable, and there was no history of mechanical ventilation or administration of high concentration of oxygen for extended periods. In 1 of the cases respiratory symptoms and hyperinflation with focal cystic changes in the lung fields on chest X-ray were noted at 5-7 months of age. Pathologically there was cystic dilatation of alveoli with focal cuboidal metaplasia of alveolar epithelium and mild to moderate focal alveolar septal fibrosis. Wilson-Mikity syndrome, congenital pulmonary lymphagiectasia, bronchopulmonary dysplasia, and idiopathic interstitial fibrosis of lungs were ruled out on clinical and/or pathologic grounds. Factors such as compression of bronchi by enlarged pulmonary arteries or cardiac chambers, peribronchiolar accumulation of fluid, pulmonary hypoplasia occurring in Down's syndrome, and episodes of pulmonary arterial hypoperfusion associated with severe congenital heart disease may be related to the pathogenesis of the lesion.
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9/13. Posterior fossa ependymal cyst and atlantoaxial subluxation in a patient with down syndrome: CT findings.

    A 61-year-old woman with down syndrome presented with progressive deterioration of gait over 9 months. Cranial CT without and with intravenous administration of contrast material demonstrated a posterior fossa cyst. The cyst did not communicate with the fourth ventricle or subarachnoid spaces as proven by CT following a metrizamide ventriculogram. Surgical fenestration of the cyst into the fourth ventricle was done. In addition, a moderate atlantoaxial subluxation with 2 mm movement from extension to flexion was present, which was thought not to be clinically significant, but which might require a spinal fusion at a future time. Ependymal cells were found as a result of a biopsy of the cyst wall.
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10/13. pseudohypoaldosteronism in a child with down syndrome. Long-term management of salt loss by ion exchange resin administration.

    At 4 weeks of age, an infant with down syndrome developed severe dehydration and salt loss with the typical features of pseudohypoaldosteronism (PHA). plasma renin activity, 11-deoxycorticosterone, corticosterone and aldosterone levels were all increased several-fold over the normal range for age, thus excluding an adrenal biosynthetic defect. Clinical condition, hyponatraemia and hyperkalaemia could be rapidly normalised by the ion exchange resin Resonium A administered first as enema and later orally (3 g/day). At that time, no further salt supplementation was necessary. At 18 months of age, Resonium A could be completely withdrawn with neither clinical deterioration nor electrolyte abnormalities. However at 3 1/2 years of age, plasma renin activity and aldosterone were still markedly elevated while precursor steroids were normal and the clinical condition satisfactory. No side effects were observed with the Resonium A therapy. The combination of trisomy 21 and PHA is very unusual. Similarly, the successful treatment of severe renal salt loss during infancy by sodium supplementation and concomitant potassium withdrawal via an oral ion exchange resin has not yet been described and warrants further therapeutic trials.
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