1/6. A case of intra-abdominal multiple lymphangiomas in an adult in whom the immunological evaluation supported the diagnosis.A 60-year-old patient with intra-abdominal lymphangiomatosis is described. He presented with anaemia due to enteric haemorrhage, hypoproteinaemia with heavy hypogammaglobulinaemia and T-cell lymphopenia. Duodenal biopsy showed lymphangiectasia while a small bowel study revealed several filling defects in the terminal ileum. On exploratory laparotomy, numerous inoperable lymphangio-haemangiomata were found, involving the small and large intestine, appendix, mesenterium, gallbladder and main biliary tract. The importance of T-cell lymphopenia and hypogammaglobulinaemia in the diagnosis of intra-abdominal lymphangiomatosis with lymphangiectasia is stressed.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/6. Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We analyzed 16 patients with NICCD to clarify the clinical features of the disease. Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia. Laboratory data showed elevated serum bile acid levels, hypoproteinemia, low levels of vitamin k-dependent coagulation factors, and hypergalactosemia. Hypercitrullinemia was detected in 11 out of 15 patients examined. Most of the patients were given a lactose-free and/or medium chain triglycerides-enriched formula and lipid-soluble vitamins. The prognosis of the 16 patients is going fairy well at present, but we should observe these patients carefully to see if they manifest any symptom of CTLN2 in the future.- - - - - - - - - - ranking = 0.34952550307028keywords = hemolytic (Clic here for more details about this article) |
3/6. Late presentation of small-bowel injury--hypoproteinaemia, anaemia and obstruction. A report of 2 cases.In contrast with traumatic intestinal perforation, the late sequelae of lesser small-bowel injury are not readily recognised. A protracted course of protein-losing enteropathy as an intermediate result of traumatic segmental small-intestinal ischaemia, and a fibrotic stricture with anaemia, intestinal obstruction and bezoar formation as a late result, are illustrated.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
4/6. growth failure due to protein loss in dermatitis.A 10-month-old infant is described who suffered from extensive atopic dermatitis, failure to thrive, hypoalbuminaemia and oedema. Large amounts of sticky exudate were lost through the skin and were shown to be rich in albumin. As renal and intestinal loss of protein was excluded, the patient's condition was ascribed to the loss of albumin through the skin at a rate that out-stripped the synthesis of this protein. Treatment with steroids resulted in dramatic clearing of his dermatitis, and subsequent rapid correction of his hypoalbuminaemia, oedema and anaemia.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
5/6. Hypoproteinaemia, oedema, and anaemia: an unusual presentation of cystic fibrosis in dizygotic twins.The rare combination of oedema, hypoproteinaemia, and anaemia as a presenting feature of cystic fibrosis in dizygotic twins of opposite sex is described. The features of this syndrome together with pathogenesis, treatment, and prognosis are discussed.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
6/6. Complications of the ketogenic diet.PURPOSE: The ketogenic diet has been successfully used in treatment of pediatric epilepsy for >70 years. Few serious complications caused by the diet have been reported. We report complications that have been experienced by children receiving the ketogenic diet. methods: In a 22-month period, we treated 52 children with the classic ketogenic diet and monitored them in a prospective manner. RESULTS: Five children (10%) experienced serious adverse events (AE) after initiation of the diet. Four patients (80%) were treated with valproate (VPA) in addition to the diet, as compared with 25 (53%) of the other 47 children. Two patients developed severe hypoproteinemia within 4 weeks of initiation of the diet, and 1 of them also developed lipemia and hemolytic anemia. A third child developed Fanconi's renal tubular acidosis within 1 month of diet initiation. Two other children manifested marked increases in liver function tests, 1 during the initiation phase and the other 13 months later. CONCLUSIONS: Clinicians who wish to use the ketogenic diet must be aware of the potential of serious AE and possible interactions of the diet with VPA.- - - - - - - - - - ranking = 0.34952550307028keywords = hemolytic (Clic here for more details about this article) |