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)

Sibling cases of familial vitamin E deficiency accompanied by ataxia, polyneuropathy and mental retardation were reported. Case 1 was a 37-year-old male who developed progressive gait disturbance, deformity of the feet and head tremor from childhood, after normal delivery and development of early childhood. On physical examination, he had cataract, high arched palate and pes cavus. Neurological examination revealed mental retardation (WAIS 68), scanning speech, muscular atrophy of the face and extremities with predominance in the lower limbs, absent Achilles tendon reflex, disturbance of superficial and deep sensation predominant in distal limbs, and marked gait ataxia. Ataxia was both cerebellar and sensory in nature. Laboratory data of the blood showed no significant abnormalities including blood glucose and vitamin B12 except a markedly low level of serum vitamin E. The brain CT scan revealed severe cerebellar atrophy and marked dilatation of the cisterna magna and the subarachnoid space around the cerebellum. Motor nerve conduction velocity in the leg was decreased. Biopsy specimen from the quadriceps muscle showed neurogenic atrophy. Sural nerve biopsy revealed decrease in large myelinated fibers with axonal degeneration and regeneration. Oral administration of alpha-tocopherol acetate, 600 mg per day, diminished ataxia significantly. Based on lysosomal enzyme activity in leukocytes, clinical and laboratory examination, lipidosis or spinocerebellar degeneration was excluded. Chronic lipid malabsorption or beta lipoprotein deficiency which can cause decrease in vitamin E absorption, was not recognized. On oral loading with 2 g of alpha-tocopherol acetate, the decrease rate of serum vitamin E was normal. Consequently the low vitamin E was considered to have resulted from selective impairment of vitamin E absorption.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]. 226 7

Acanthocytes have a distinct morphology and are not normally found in peripheral blood. They occur in association with at least three neurological syndromes. In abetalipoproteinaemia, a progressive spinocerebellar ataxia and retinopathy occurs secondary to malabsorption of vitamin E. Cases with chorea are often familial, with orofacial dyskinesia and an axonal neuropathy causing areflexia and muscle wasting. Areflexia and a subclinical myopathy also occur in the McLeod syndrome, in which there is abnormal expression of Kell blood group antigens. The exact mechanism of acanthocytosis in each disorder remains uncertain: passive changes in membrane lipids, surface receptor/ligand interactions, and a primary membrane defect are among the possibilities.
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PMID:Acanthocytosis and neurological impairment--a review. 268 30

Infection with Capillaria philippinensis has not been reported in Taiwan before. It is characterized by chronic diarrhea, abdominal pain and muscle wasting. Because the infection results in a severe disease with a high mortality, early diagnosis is very important. A 58-year-old housewife from Ar-Lien village, Kao-Hsiung County, was admitted to the National Taiwan University Hospital in July 1988, after suffering from diarrhea, lower leg edema and weight loss for one year. The initial symptom was epigastric pain followed by watery diarrhea. Thereafter borborygmus, frequent loose stool passage and weakness persisted. The cause of her malabsorption syndrome went undetected until the ova, larvae and adult worms of C. philippinensis were detected in the direct smear of the patient's stool in August 1988. She received mebendazole 200mg b.i.d. for 20 days. Capillaria ova were no longer detected following the third day of medication. At the second month follow-up, her body weight returned to her pre-morbid state and all laboratory findings returned to normal with the exception of mild anemia. The infection source was not clear.
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PMID:Intestinal capillariasis: report of a case. 279 62

In a longitudinal study, 21 patients with familial amyloidosis with polyneuropathy (FAP) were followed up for more than three years. Gastrointestinal symptoms ultimately evolved in all patients. In the advanced stage of the disease, 13 patients had diarrhea together with anal incontinence. Weight loss was very common and related to both malabsorption and motility disturbances with anorexia and also to muscular atrophy. Steatorrhea was found in 19 patients at least once during the follow-up. The duration of the disease was significantly correlated to fecal fat output. The conclusion was drawn that the gastrointestinal involvement in FAP is very common and of great clinical importance. The consequences of malnutrition also influence the outcome of the disease.
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PMID:Familial amyloidosis with polyneuropathy. A long-term follow-up of 21 patients with special reference to gastrointestinal symptoms. 666 47

The classical symptoms of malabsorption syndrome are diarrhea, steatorrhea, weight loss, and fatigue. Tetany, ecchymosis, anorexia, bone pain, pallor, muscle wasting, hyperpigmentation, apathy, digital clubbing, abdominal distention which contrasts in view of the reduced common statement are other signs of malabsorption. Long before the onset of these symptoms there may be a disinterest in regular daily activities often associated with the passage of three soft stools per day and with the remarkable sign of difficulties in flushing bulky stools. Anamnesia, clinical examination in connection with common laboratory findings, small intestinal x-rays and endoscopic investigations associated with biopsies of the small (and large) bowel as well as estimation of stool fat excretion, xylose- and Schilling-test allow the diagnosis in most of the cases.
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PMID:[Clinical aspects and differential diagnosis of malabsorption]. 684 29

Myopathy associated with desmin-type intermediate filaments is an uncommon disorder of skeletal and/or cardiac muscle. The present study focuses on a 28-year-old man with generalized muscular atrophy, cardiomyopathy, and intestinal malabsorption and pseudo-obstruction. Abundant sarcoplasmic granular and filamentous aggregates that were ultrastructurally continuous with Z lines or dense bodies and exhibited intense immunostaining for desmin were present throughout the skeletal musculature, myocardium, and smooth muscle of the intestine. Moreover, neurofilament-immunoreactive axonal spheroids were identified in the spinal cord and roots. These widely distributed findings illustrate the multisystemic character of desmin myopathy, which in this instance first adds intestinal smooth muscle involvement to its already known skeletal and cardiac muscle manifestations. The additional presence of neurofilament aggregates in the spinal cord and roots constitutes an extremely rare conjunction of intermediate filament pathology of the neuromuscular system.
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PMID:Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. 767 86

Protein-energy malnutrition is an inevitable consequence of chronic liver disease, particularly in the developing infant. Severe malnutrition with loss of fat stores and muscle wasting affects between 60% and 80% of infants with liver disease (Beath, 1993a; Holt et al, 1997). Reduced energy intake secondary to anorexia, vomiting and fat malabsorption, in association with a disordered metabolism of carbohydrate and protein, increased energy requirements and vitamin and mineral deficiencies, contributes towards growth failure. Reversal of malnutrition is one of the key aims of liver transplantation and is achieved in the majority of long-term survivors. The aetiology of persistent growth failure post-transplantation is multifactorial and is related to pre-operative malnutrition, glucocorticoid administration, feeding problems and post-operative complications. Strategies to prevent pre- and post-transplant growth failure include early referral for liver transplantation and a multidisciplinary approach to nutritional support, which may increase survival and improve the quality of life and outcome of liver transplantation.
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PMID:Cholestasis and end-stage liver disease. 1007 9

There are various potential explanations for weight-loss and poor physical performance in patients with chronic pancreatitis: In severe chronic pancreatitis the decline in enzyme secretion is an important cause for the malassimilation syndrome frequently seen in these patients. Occasionally, difficulties may arise in establishing this decline and in quantifying the secretory capacity of the gland. Many patients limit their food intake because of the pain caused by eating. In untreated patients with diabetes, glucosuria may contribute to their malnutrition. Insufficient funds for food due to alcoholism and anorexia may also be of some significance. Concomitant gastrointestinal diseases and malabsorption following gastrointestinal surgery are frequently found in patients with chronic pancreatitis. Neurological complications and traumatic lesions after accidents - often in connection to the underlying alcoholism - are joined by physical inactivity and thus contribute to the development of muscular atrophy and decreased physical performance. Consequently, rehabilitation of patients with chronic pancreatitis is challenging: They not only need expert medical treatment of both the symptoms of chronic pancreatitis and the concomitant disorders. Therapy must also include dietary support, careful physical training, and - in cases caused by alcoholism - psycho-social support. So far, the multi-professional competence required for these purposes can only be expected in a specialized rehabilitation centre.
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PMID:[Chronic pancreatitis: weight loss and poor physical performance - experience from a specialized rehabilitation centre]. 1174 23

The diagnosis of adrenal insufficiency is discussed in case of low blood pressure and digestive symptoms. Rare inaugural abdomino-crural muscle contracture can be a misleading symptom. Here we report two new cases. A 50-year-old woman presenting a leaning forward walking attitude and negligence for the past 2 months was referred to the neurologic unit. Abdomino-crural contracture, clinical hypogonadism, and hyponatremia directed towards a panhypopituitarism, which was confirmed by subsequent investigations. Pituitary MRI found an empty sella turcica. The outcome was dramatic after hormone replacement therapy, with drawing up of the trunk and re-establishment of walking after a few days. The second case is a 58-year-old man, hospitalized with altered general condition, with a weight loss of 22 kg, and anorexia in the aftermath of a comminuted fracture of the right lower limb, complicated by pseudoarthrosis. There was amyotrophy on the extremities with intense cruralgia. The patient had an antalgic attitude in the flexion affecting his rehabilitation. During 1 year, the symptoms were mimicking psychiatric disorders, malabsorption, or cancer before the final diagnosis of central hypocorticism with normal MRI was established. The evolution was remarkable after a few days of therapy with hydrocortisone, where the myalgia disappeared, the patient quickly gained weight, and the disappearance of the retractions allowed rehabilitation. These two observations emphasize the delayed diagnosis of adrenal insufficiency in the case of abdomino-crural-related symptoms and the presence of misleading neurological symptoms. The mechanisms of this syndrome remain unknown.
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PMID:Flexion contractures possibly reflect the existence of hypocortisolism: two case reports. 2015 22