Graves' disease in a Down's syndrome patient

Thyroid dysfunction in patients with Down's syndrome is well known. Although the majority of children with Down's syndrome appear to have normal thyroid function, however, hypothyroidism is commonly seen. The presence of hyperthyroidism is rare. The etiology is believed to be autoimmune. We report a patient with Down syndrome and Graves' disease who responded well to antithyroid drugs. The rarity of this association, especially in a child younger than eight years of age, has prompted us to report this case.     

The prevalence of coeliac disease in Down's syndrome in Malta

The prevalence of coeliac disease is increased in individuals with Down's syndrome. The objective of this study was to assess the frequency of coeliac disease in Down's syndrome in Malta. One hundred children and adults with Down's were screened for coeliac disease. A history was taken from all of them and they were examined and measured for weight and height. A full blood count, antigliadin (IgG and IgA) and anti-endomysial antibodies were estimated. Equivocal cases were also screened for antireticulin antibodies. Jejunal biopsy was recommended in all serologically positive cases. The frequency of coeliac disease in Down's syndrome was 8%, much greater than that in the general population. Screening for coeliac disease in all cases of Down's syndrome is therefore recommended.     

The clinical course of cardiac disease in Down's syndrome.

There was 230 patients with heart disease among 369 infants and children with Down's syndrome. The majority exhibited defects of the endocardial cushion variety and approximately one quarte had complete atrioventricular canals (CAVC). Pulmonary artery hypertension was uniform in catheterized patients in this latter group and frequent in all left-to-right shunts. Medical and surgical mortality was high (33%) in these 230 children and especially in those with CAVC and tetralogy of Fallot. Only 4% (76 of 1,916) of infants with critical heart disease in New England had Down's syndrome and the most frequent lesion encountered was complete atrioventricular canal.     

Cholelithiasis in Down's syndrome

Cholelithiasis is considered uncommon in infancy, childhood, and adolescence. We performed a prospective, controlled study showing that children with Down's syndrome have a significantly higher prevalence of cholelithiasis (4.7%) compared with controls (0.2%). Clinicians should be aware of the risk of gallstones in children with Down's syndrome.     

Congenital duodenal obstruction with Down's syndrome and Hirschsprung's disease

Two rare cases of congenital duodenal obstruction (CDO) with Down's syndrome and Hirschsprung's disease (HD) are reported. The incidence of associated anomalies in CDO, with reference to the literature, and the diagnosis of HD with CDO are discussed. If intestinal dilation or difficulty in defecation persist after CDO has been diagnosed and relieved, then a barium enema should be repeated together with anorectal manometric and rectal mucosal histologic studies in consideration of HD.     

Diaphragmatic hernia in Down's syndrome

Three Saudi children with Down's syndrome were found to have anterior diaphragmatic hernias. They all needed surgical correction. In Down's syndrome, besides congenital heart disease and recurrent chest infection, a diaphragmatic hernia should be looked for as a possible cause of respiratory distress and chest deformity.     

Cholelithiasis in Down's syndrome.

Cholelithiasis is considered uncommon in infancy, childhood, and adolescence. We performed a prospective, controlled study showing that children with Down's syndrome have a significantly higher prevalence of cholelithiasis (4.7%) compared with controls (0.2%). Clinicians should be aware of the risk of gallstones in children with Down's syndrome.     

Esophageal dysfunction in Down's syndrome

Abnormalities in esophageal function were identified in seven children with Down's syndrome. Three had recurrent episodes of pneumonia from gastroesophageal reflux; two of these and one other patient had esophageal strictures. Two patients with Down's syndrome revealed no evidence of gastroesophageal reflux but did show significant abnormalities in esophageal peristalsis. These data would suggest that ambulatory children with Down's syndrome may be at risk of developing serious sequellae of gastroesophageal reflux. The spectrum of data of these seven patients is discussed, and pertinent prior reports from the literature are reviewed.     

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.     

Moyamoya disease and sagittal sinus thrombosis in a child with Down's syndrome

A girl with Down's syndrome, moyamoya disease and sagittal sinus thrombosis is described. She was diagnosed after acute neurological deterioration by MRI and angiography. Recombinant tissue plasminogen activator (r-TPA) was injected locally to recanalise the thrombus. The patient's condition significantly improved and she was discharged. After 2 years of follow-up the child remains asymptomatic. Moyamoya syndrome and cerebral venous thrombosis should not be overlooked as a cause of acute neurological deterioration in a child with Down's syndrome. MRA appears to be a safe and accurate alternative to traditional angiography for the diagnosis of moyamoya disease. Local fibrinolysis with r-TPA is the treatment of choice for cerebral venous thrombosis due to its safety and efficacy. Received: 13 June 2000/Accepted: 15 June 2000     

Carnitine and Down's syndrome

The present study revealed a degree of carnitine deficiency in a large percentage of Down's syndrome children. In fact below average carnitine levels were noted in 39.1% of the cases examined with severe deficiency in 4. On the basis of these data supplementary carnitine is recommended in cases of deficiency particularly in view of the value of carnitine in the prevention of cell aging.