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 new family syndrome is described that affected three of seven siblings and another patient who had been abandoned at birth but came from the same area of France. All four patients were young women with a very peculiar phenotype, poikiloderma and greying of the hair, and idiopathic non-arteriosclerotic cerebral calcifications. Pathological studies demonstrated small-vessel hyalinosis due to basal membrane thickening, mainly in the digestive tract, kidneys and calcified areas of the brain. The clinical and biological expressions of these vascular changes varied. Peripheral retinal ischemic syndrome and chorioretinal scars were found in the ocular fundi of three patients. Malabsorption and protein-losing enteropathy was the main problem in all four, and was the cause of one patient's death. A subarachnoid hemorrhage due to a right sylvian aneurysm also occurred in two of the three sisters and was lethal for one. Nephropathy with renal failure and systemic hypertension is the major problem of the two surviving patients.
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PMID:Retinal and choroidal ischemic syndrome, digestive tract and renal small vessel hyalinosis, intracerebral calcifications and phenotypic abnormalities: a new family syndrome. 277

A new familial syndrome that affected 3 of 7 siblings is described. All 3 patients were young women with a very peculiar phenotype, poikilodermia and hair greying, and idiopathic nonarteriosclerotic cerebral calcifications. Pathological studies demonstrated a marked and progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and calcified areas of the brain. Using electron microscopy, we found that the hyalin substance in the intestinal capillaries consisted of several concentric layers of basal membrane-like deposits within a finely granular fluffy material. Huge deposits of this material were present in the subepithelial and mesangial spaces of the kidneys. Endothelial cells and, in the kidneys, mesangial cells were markedly abnormal, and a true mesangiolysis pattern was present in 2 patients. The clinical and biologic expression of these vascular changes was variable. Diarrhea, rectal bleeding, malabsorption, and protein-losing enteropathy were the main and lethal clinical problems in the proband. Hypertension appeared in the early stage of a second pregnancy in 1 sister, and mild proteinuria was found in all 3 affected patients. Peripheral retinal ischemic syndrome and chorioretinal scars were found in the ocular fundi of both affected sisters of the proband. A subarachnoid hemorrhage, due to a right sylvian aneurism, also occurred in both sisters and was lethal in 1 sister. None of the known causes of distal vessel hyalinosis could be ascertained.
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PMID:Digestive tract and renal small vessel hyalinosis, idiopathic nonarteriosclerotic intracerebral calcifications, retinal ischemic syndrome, and phenotypic abnormalities. A new familial syndrome. 348 63

The authors investigated the hydrodynamics in normal pressure hydrocephalus (NPH) and suggested surgical indication for identifying cases suitable for shunt operation. 48 patients with presumed NPH who underwent CT scanning, CT cisternography, and continuous monitoring of intracranial pressure for 24 hours were studied for assessing the correlation of incidence of B wave with clinicopathological features of the normal pressure hydrocephalus syndromes. The causes of NPH consisted of idiopathic of primary origin in 24 patients, subarachnoid hemorrhage in 9, head injury in 8, cerebrovascular occlusion in 3, meningitis in 2, intracerebral hematoma in one and craniotomy in one. The incidence of B waves in term of percentage of time with B waves did not correlate with the age of the patients and presence or absence of CT evidence of brain atrophy. There was a good correlation between incidence of B waves and the degree of ventriculomegaly, the presence of periventricular lucency on CT, and the grade of CSF circulation disturbance as evaluated by CT cisternography. The pathogenesis of B waves may be related to increased malabsorption of CSF in the major pathways and episodic pressure response promoting CSF absorption in the lesser pathways. Those patients who exhibit the type IV or type V on CT cisternography and B waves for more than 20% of the time monitored on continuous monitoring of intracranial pressure (ICP) responded to shunting in more than 90%. Patients showing type III-b on CT cisternography and B waves for more than 5% on ICP monitoring benefited from a shunt in about 70%. On the other hand, patients with type III-a on CTC and B waves for less than 5% of the time monitored could not be expected to respond to shunting. Incidence of B waves on continuous ICP monitoring correlated closely with response to CSF shunting. Therefore continuous ICP monitoring, combined with CT cisternography, provide a reliable indication of the potential of a patient with NPH to recover after shunting.
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PMID:[Continuous intracranial pressure monitoring in normal pressure hydrocephalus--with special reference to clinical significance of B wave and prognostic criteria for CSF shunting]. 684 9