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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Any review of the metaphyseal chondrodysplasias is complicated by their variety and mainly unknown pathogenesis. The more familiar types display considerable clinical and radiological diversity: even more so the rarer disorders which still require complete definition, but differences in their mode of inheritance make diagnostic precision mandatory. These dysplasias present in infancy or in childhood, when the patient, usually dwarfed, may be proportionate, so that some forms may be confused with rickets or other lesions. Mental retardation is unusual, but the skin, hair, nails and facies provide valuable diagnostic features. Radiological abnormalities mainly affect the metaphyses of the shortened limb bones, less often the skull, vertebrae, pelvis, ribs and extremities, and sometimes their distribution may indicate the specific type of dysplasia. In a further complex group multiple systems are involved, notably the pancreas, intestine and lympho-reticular, causing malabsorption and haematological or immunological disorders.
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PMID:Metaphyseal chondrodysplasia. 33 75

Six personal cases of digestive tract involvement in dystrophic recessive epidermolysis bullosa are reported, and the relevant literature is reviewed. The study deals with the clinical aspects of these cases (buccal and dental lesions, digestive symptoms, effects on nutritional status; table I), as well as with their biochemical (table II), radiological and endoscopic aspects (table III, fig. 1 and 2). All patients presented with bucco-dental lesions, including two cases of congenital abnormalities: one with malposition and dysgenesis of the teeth, the other with dysplasia of the enamel in a patient whose dystrophic skin disease was proven by electron microscopic study. The oesophagus was involved in six cases, with tight concentric stenosis (2 cases), retrocricoidal stenosis (1 case) and oesophagitis (2 cases). No gastro-duodenal or intestinal lesions were detected. A case of constipation was related to anal involvement. The patients' nutritional status was investigated clinically and biochemically. A search for intestinal malabsorption by means of specific tests was conducted in 2 patients and proved negative. A study of the literature provided data on the nature and specificity of dental lesions. The morphological features, complications and physiopathology of oesophageal stenoses are described The existence of gastrointestinal lesions is discussed. Nutritional repercussions are presented and their causes are discussed. Attention is paid to the medical and surgical treatments of these lesions.
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PMID:[Digestive involvement in dystrophic recessive epidermolysis bullosa. Apropos of 6 cases and review of the literature]. 332 46

Nineteen children underwent subtotal pancreatectomy for hyperinsulinemic hypoglycemia. Of the four who were older than 10 years of age at onset of symptoms, three had islet adenomas, and one had endocrine cell dysplasia (ECD). The two patients with multiple adenomas had a family history of multiple endocrine neoplasia, type 1 (MEN 1). Of the 15 who were younger than 1 year of age at onset of symptoms, 12 had ECD alone, and three had ECD with adenomatosis. Four children required a second surgical procedure and near-total pancreatectomy because of persistent hypoglycemia. All 19 patients' conditions improved, with no postsurgical complications. After near-total pancreatectomy, all four patients were treated for fat malabsorption, but only two required insulin because of secondary diabetes mellitus. We concluded that subtotal pancreatectomy is a safe, effective adjunct to the treatment of children with hyperinsulinemic hypoglycemia.
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PMID:Surgical management of hyperinsulinemic hypoglycemia in children. 614 50

The radiographic features of five patients with arteriohepatic dysplasia are presented. These patients had congenital intrahepatic cholestasis with elevated serum bile acids, vertebral body abnormalities of shape and/or segmentation, shortened digits, and congenital heart disease, particularly peripheral pulmonic stenosis. They also had dysmorphic facies, eye abnormalities, hypercholesterolemia, and mild fat malabsorption. Some of the patients had neurologic, endocrine, and/or renal abnormalities as well, and they may have had hoarse voices due to vocal cord nodules. Variability in expression of the syndrome and vertical transmission suggest an autosomal dominant pattern of inheritance.
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PMID:Arteriohepatic dysplasia: radiologic features of a new syndrome. 677 28

Two siblings (4 and 10 years old) with ichthyosis vulgaris, growth and mental retardation, hair dysplasia, teeth abnormalities, recurrent infections and malabsorption are presented. The elder sister of the children as well as the rest of the family are unremarkable. The complex of symptoms does not fit into one of the known Ichthyosis syndromes. Microscopically the dystrophic hairs show changes in diameters, nodules, lack of the medulla, rough cuticle and splits vertical to the axis, sometimes resembling trichorrhexis nodosa. In the scanning electron-microscope there is a clear difference to Netherton's syndrome. The plasma concentrations of the vitamines A, B12 as well as of beta-carotines are low in spite of normal nutrition. During parenteral therapy with vitamin A and B12 symptoms ameliorate slightly.
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PMID:[Ichthyosis vulgaris, growth retardation, hair dysplasia, tooth abnormalities, immunologic deficiencies, psychomotor retardation and resorption disorders. Case report of 2 siblings]. 722 65

Satoyoshi syndrome is a rare disorder of unknown cause characterized by progressive, painful intermittent muscle spasms, malabsorption, alopecia, amenorrhea, and skeletal abnormalities mimicking a skeletal dysplasia. We describe a 19-year-old Caucasian woman with characteristic manifestations starting at age 9. The report of this patient confirms that this condition is not limited to the Asian population.
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PMID:Satoyoshi syndrome: an unusual postnatal multisystemic disorder. 757 41

Satoyoshi syndrome is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe skeletal abnormalities mimicking a skeletal dysplasia, malabsorption, alopecia, and amenorrhea. We further report on a 20 1/2-year-old Caucasian woman with characteristic manifestations of the syndrome. Since the establishment of the diagnosis 1 year ago, she has been treated with prednisone with good response. However, treatment of the multiple deformities and fractures has been difficult and challenging. The early recognition and treatment of this disorder is of utmost importance, as the skeletal deformities and fractures seem to be secondary to the muscular spasms, as suggested by Satoyoshi.
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PMID:Radiological and orthopedic abnormalities in Satoyoshi syndrome. 913 53

Cobalamin (vitamin B12) deficiency is more common in the elderly than in younger patients. This is because of the increased prevalence of cobalamin malabsorption in this age group, which is mainly caused by (autoimmune) atrophic body gastritis. Cobalamin supplementation is affordable and nontoxic, and it may prevent irreversible neurological damage if started early. Elderly individuals with cobalamin deficiency may present with neuropsychiatric or metabolic deficiencies, without frank macrocytic anaemia. An investigation of symptoms and/or signs includes the diagnosis of deficiency as well as any underlying cause. Deficiency states can still exist even when serum cobalamin levels are higher than the traditional lower reference limit. Cobalamin-responsive elevations of serum methylmalonic acid (MMA) and homocysteine are helpful laboratory tools for the diagnosis. The health-related reference ranges for homocysteine and MMA appear to vary with age and gender. Atrophic body gastritis is indirectly diagnosed by measuring serum levels of gastrin and pepsinogens, and it may cause dietary cobalamin malabsorption despite a normal traditional Schilling's test. The use of gastroscopy may also be considered to diagnose dysplasia, bacterial overgrowth and intestinal villous atrophy in healthy patients with atrophic body gastritis or concomitant iron or folic acid deficiency. Elderly patients respond to cobalamin treatment as fully as younger patients, with complete haematological recovery and complete or good partial resolution of neurological deficits. Chronic dementia responds poorly but should, nevertheless, be treated if there is a metabolic deficiency (as indicated by elevated homocysteine and/or MMA levels). Patients who are at risk from cobalamin deficiency include those with a gastrointestinal predisposition (e.g. atrophic body gastritis or previous partial gastrectomy), autoimmune disorders [type 1 (insulin-dependent) diabetes mellitus and thyroid disorders], those receiving long term therapy with gastric acid inhibitors or biguanides, and those undergoing nitrous oxide anaesthesia. To date, inadequate cobalamin intake has not proven to be a major risk factor. Intervention trials of cobalamin, folic acid and pyridoxine (vitamin B6) in unselected elderly populations are currently under way.
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PMID:Age-related changes in cobalamin (vitamin B12) handling. Implications for therapy. 957 92

The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in addition, vomiting and prolonged diarrhea. The study results suggest that malabsorption, demonstrated as increased serum immunoglobulin A anti-gliadin antibody, steatorrhea and partial villous atrophy of the jejunal small bowel, is a previously unrecognized feature of SID.
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PMID:Autoimmune enteropathy in Schimke immunoosseous dysplasia. 963 75

Several fundamental questions relating to the biochemical basis of megaloblastic hemopoiesis in vitamin B12 (B12) and folate deficiency and neurological damage in B12 deficiency remain to be answered. Among them is the explanation underlying (1) the failure of B12-deficient animals to develop megaloblastic hemopoiesis despite indirect evidence of impaired thymidylate synthesis and (2) the inverse relationship between the extent of hematologic and neurological damage in B12 deficiency. Diagnostic advances have led to the awareness that many patients with B12 or folate deficiency are hematologically normal and that subtle hematologic or neuropsychiatric manifestations may be found at a fairly early stage of developing B12 deficiency. Studies of the mechanism of absorption of B12 in food have identified the syndrome of food B12 malabsorption in which the degree of B12 deficiency is commonly, although not invariably, mild. Folate intake influences the prevalence of neural tube defects (NTDs) and a suboptimal folate status may be associated with an increased risk for dysplasia and cancer. The latter may be at least partly the result of uracil misincorporation into DNA and consequent DNA strand breaks. Folate status has also been linked to arteriosclerotic vascular disease through its effect on serum homocysteine levels. Uracil misincorporation into DNA and increased serum homocysteine levels may also be found in B12 deficiency. These adverse associations form the basis of a case for improving B12 or folate status in individuals with a mild degree of deficiency. Because inadequate folate intake is relatively common, especially in the elderly and the poor, the fortification of staple foods with folate is currently under active consideration.
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PMID:The wide spectrum and unresolved issues of megaloblastic anemia. 993 May 65


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