Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-year-old mentally retarded girl was sent to our hospital due to generalized edema, vomiting and poor appetite for several days. Serum albumin level was low, but no proteinuria was detected. Her stool was bulky and foul. Stool examination for parasite with formalin-ether concentration method revealed negative result. Trypsin activity test of stool revealed low trypsin activity as compared with normal specimen. Daily fecal fat exceeded upper normal limit. The diagnosis of giardiasis was confirmed by duodenal juice examination. Intestinal histology revealed mild shortening of the villi with increased mononuclear cell infiltration in the lamina propria. The daily stool amount decreased markedly after treatment with metronidazole 250 mg three times a day for 7 days. The edema subsided during the treatment. Serum albumin bevel returned to normal after the treatment. Giardiasis with malabsorption syndrome has often been overlooked in Taiwan. It is advised that in case of malabsorption syndrome giardiasis should be included in the list of differential diagnosis.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:[Giardiasis with malabsorption syndrome: report of one case]. 227 67

A 10-year-old mentally retarded girl from an asylum in northern Taiwan was diagnosed to have giardiasis with malabsorption syndrome at the Department of Pediatrics, National Taiwan University Hospital in 1983. A survey for giardiasis in 239 children living in the same asylum was therefore performed. Stool specimens were collected from all children, and giardia was examined simultaneously by formalin-ether concentration method and polyvinyl alcohol preservation followed by Trichrome stain. Forty one cases (17.2%) of giardiasis were detected by the former method while 48 cases (20.1%) by the latter method. Abnormally low stool trypsin activity was found in 38 of the 42 cases (90.5%) tested and the activity returned to normal in 50% of patients after successful treatment. Endoscopic examination and intestinal biopsy of upper gastrointestinal tract were performed in 12 cases. Among them, 4 were found to have nodular lymphoid hyperplasia, lymphoid hyperplasia in 7, and increased mononuclear cell infiltration in lamina propria in 7. Forty patients were treated with metronidazole 250 mg three times a day for 5 days. Follow-up stool examinations revealed that 12 children (30%) still passed giardia in their stools 4 months after treatment. Reinfection and inadequate sensitivity of the initial screening test may be used to account for such a high rate of treatment failure.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:[A survey of giardiasis in an asylum for mentally retarded children]. 263 94

A 2 5/12-year-old Chinese boy was investigated for refractory seizures and psychomotor regression. His birth history was unremarkable. Generalized seizures occurred at 2 weeks of age with hypocalcemia. They recurred at 7 months of age and have become aggravated since. During hospitalization, in addition to hypocalcemia and hypomagnesemia, he was found to have hypoparathyroidism, cardiomyopathy, and brain atrophy. Excessive renal loss of magnesium, general intestinal malabsorption, or inadequate dietary intake of magnesium were excluded. He was successfully treated with oral supplements of 19-25 mmole/day of magnesium. Over a few months, he made a dramatic progress in development. His hypoparathyroidism and cardiomyopathy gradually resolved. However, intermittent seizures and psychomotor retardation persisted up to his present age of 6 3/12 years. At 4 months of age his younger sister also developed seizures and was found to have isolated hypomagnesemia. This was corrected by oral magnesium and followed by resolution of the seizure. She has developed normally up to her present age of 1 10/12 years. Both patients are currently maintained on oral magnesium oxide.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Familial primary hypomagnesemia complicated with brain atrophy and cardiomyopathy. 929 31