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

Congenital defects of lymphatics constitute a spectrum of disorders that may manifest with a variety of clinical presentations including lymphedema, chylous effusions, lymphangiomatous malformations with cystic masses and localized gigantism, and intestinal lymphangiectasia with malabsorption. These entities constitute a relatively rare group of disorders, the origin of which remains somewhat controversial, but in some it appears to be due to early lymphatic obstruction. Five cases are described, which demonstrate the anatomical pathology of these entities. A classification and description of the defects is also presented. An attempt is made to present a unified theory of origin for this seemingly diverse group of diseases. While these entities may be challenging from a diagnostic and therapeutic standpoint, a wide variety of imaging modalities, which includes lymphography, computed tomography scanning, and ultrasound, may be used to diagnose the extent and internal structural characteristics of the abnormalities.
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PMID:Primary disorders of the lymphatic vessels--a unified concept. 270 85

A study of 60 patients with oro-facial granulomatosis has been conducted and the clinical presentation of this disorder defined. It encompasses the previously recognised clinical entities of Melkersson-Rosenthal syndrome and cheilitis granulomatosa. The pathological features of the disease are lymphoedema and the presence of multiple non-caseating giant cell granulomata. These granulomata are histologically indistinguishable from those found in both gastrointestinal Crohn's disease and systemic sarcoidosis. Within this series of patients, nine had evidence suggestive of gastrointestinal Crohn's disease, and in six this was confirmed. A diagnosis of sarcoidosis was made in a further two patients. The relationship of oro-facial granulomatosis to these systemic granulomatous diseases is not yet clear. Patients with oro-facial granulomatosis who have gastrointestinal symptoms should be investigated for the presence of gastrointestinal Crohn's disease. Those without symptoms should be investigated for evidence of malabsorption or serological evidence of Crohn's disease. Within the present study, the erythrocyte sedimentation rate, full blood count, corrected whole blood folate, serum albumin and calcium were the most sensitive markers of gastrointestinal involvement. Sarcoidosis should be considered in all patients with oro-facial granulomatosis. The absence of clinical signs suggestive of sarcoidosis, a normal chest radiograph and normal levels of serum angiotensin-converting enzyme makes sarcoidosis unlikely.
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PMID:Oro-facial granulomatosis--a clinical and pathological analysis. 397 43

Familial Incontinentia pigmenti (IP) is a rare X-linked dominant condition. The affected cases have characteristic skin lesions, hair, eye, teeth and nail abnormalities and may also have neurological problems. The diagnosis has traditionally been made on clinical grounds. Segregation analysis has suggested that it is lethal in males. Only one liveborn male has been reported who died at one day of age. Female cases of IP survive because of the moderating effects of Lyonization. This child was the affected son of a female with IP. He had a novel phenotype consistent with hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) but with additional features: he had major problems with hematological disturbances, failure to thrive due to malabsorption, recurrent infections, generalized osteosclerosis and lymphedema of his lower limbs. He also demonstrated some typical features of IP with a generalized reticular skin hyperpigmentation, sparse hair and delayed eruption of teeth. The gene for NEMO (NF-kappa B Essential Modulator) has recently been shown to be mutated in cases of IP. Furthermore, most (80%) of patients possess a recurrent genomic rearrangement that deletes part of the gene resulting in an inactive NEMO protein. In the male case described here, a NEMO stop codon mutation has been identified that has arisen de novo in his affected mother. This mutation is likely to have a less severe effect on NEMO activity and may explain why this child survived for two years and 7 months.
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PMID:Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. 1124 84

The authors report the case of a young woman with right lower limb edema who also presented one steatorrhea. Her clinical history is typical for one primary lymphedema and the lymphoscintigraphic investigation of the lower limbs confirms the diagnosis. The scan showed the absence of the right iliac and lomboaortic lymph nodes but also that the thoracic duct was normally present. One C14-triolein breath test is pathological and proves the malabsorption of the fats. The authors discuss the interest of the scintigraphic techniques in such case and review the problem of the association between lower limb lymphedemas and fatty malabsorption.
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PMID:[Lower limb edema and steatorrhea: value of scintigraphic technics]. 1280 77

The case of a 26-year-old female patient with abdominal pain, nausea, hypoproteinemia, enteric loss of plasma proteins, lymphedema, severe steatorrhea and malabsorption, is presented. Enteroclysis and sonography were performed. Based on the case history and the characteristics of focal lesion and intestinal folds provided by the two radiologic examinations, a specific diagnosis of intestinal lymphangiectasia, confirmed at biopsy, could be established. Intestinal lymphagiectasia is a very uncommon condition characterized by dilated submucosal lymphatic channels.
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PMID:Intestinal lymphangiectasia. 1515 44

Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia. PIL is generally diagnosed before 3 years of age but may be diagnosed in older patients. Prevalence is unknown. The main symptom is predominantly bilateral lower limb edema. Edema may be moderate to severe with anasarca and includes pleural effusion, pericarditis or chylous ascites. Fatigue, abdominal pain, weight loss, inability to gain weight, moderate diarrhea or fat-soluble vitamin deficiencies due to malabsorption may also be present. In some patients, limb lymphedema is associated with PIL and is difficult to distinguish lymphedema from edema. Exsudative enteropathy is confirmed by the elevated 24-h stool alpha1-antitrypsin clearance. Etiology remains unknown. Very rare familial cases of PIL have been reported. Diagnosis is confirmed by endoscopic observation of intestinal lymphangiectasia with the corresponding histology of intestinal biopsy specimens. Videocapsule endoscopy may be useful when endoscopic findings are not contributive. Differential diagnosis includes constrictive pericarditis, intestinal lymphoma, Whipple's disease, Crohn's disease, intestinal tuberculosis, sarcoidosis or systemic sclerosis. Several B-cell lymphomas confined to the gastrointestinal tract (stomach, jejunum, midgut, ileum) or with extra-intestinal localizations were reported in PIL patients. A low-fat diet associated with medium-chain triglyceride supplementation is the cornerstone of PIL medical management. The absence of fat in the diet prevents chyle engorgement of the intestinal lymphatic vessels thereby preventing their rupture with its ensuing lymph loss. Medium-chain triglycerides are absorbed directly into the portal venous circulation and avoid lacteal overloading. Other inconsistently effective treatments have been proposed for PIL patients, such as antiplasmin, octreotide or corticosteroids. Surgical small-bowel resection is useful in the rare cases with segmental and localized intestinal lymphangiectasia. The need for dietary control appears to be permanent, because clinical and biochemical findings reappear after low-fat diet withdrawal. PIL outcome may be severe even life-threatening when malignant complications or serous effusion(s) occur.
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PMID:Primary intestinal lymphangiectasia (Waldmann's disease). 1829 65

Intestinal lymphangiectasia in the adult may be characterized as a disorder with dilated intestinal lacteals causing loss of lymph into the lumen of the small intestine and resultant hypoproteinemia, hypogammaglobulinemia, hypoalbuminemia and reduced number of circulating lymphocytes or lymphopenia. Most often, intestinal lymphangiectasia has been recorded in children, often in neonates, usually with other congenital abnormalities but initial definition in adults including the elderly has become increasingly more common. Shared clinical features with the pediatric population such as bilateral lower limb edema, sometimes with lymphedema, pleural effusion and chylous ascites may occur but these reflect the severe end of the clinical spectrum. In some, diarrhea occurs with steatorrhea along with increased fecal loss of protein, reflected in increased fecal alpha-1-antitrypsin levels, while others may present with iron deficiency anemia, sometimes associated with occult small intestinal bleeding. Most lymphangiectasia in adults detected in recent years, however, appears to have few or no clinical features of malabsorption. Diagnosis remains dependent on endoscopic changes confirmed by small bowel biopsy showing histological evidence of intestinal lymphangiectasia. In some, video capsule endoscopy and enteroscopy have revealed more extensive changes along the length of the small intestine. A critical diagnostic element in adults with lymphangiectasia is the exclusion of entities (e.g. malignancies including lymphoma) that might lead to obstruction of the lymphatic system and "secondary" changes in the small bowel biopsy. In addition, occult infectious (e.g. Whipple's disease from Tropheryma whipplei) or inflammatory disorders (e.g. Crohn's disease) may also present with profound changes in intestinal permeability and protein-losing enteropathy that also require exclusion. Conversely, rare B-cell type lymphomas have also been described even decades following initial diagnosis of intestinal lymphangiectasia. Treatment has been historically defined to include a low fat diet with medium-chain triglyceride supplementation that leads to portal venous rather than lacteal uptake. A number of other pharmacological measures have been reported or proposed but these are largely anecdotal. Finally, rare reports of localized surgical resection of involved areas of small intestine have been described but follow-up in these cases is often limited.
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PMID:Intestinal lymphangiectasia in adults. 2136 42