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)

Vitamin B12 malabsorption in the ileum has been postulated as the underlying cause of the Imerslund-Grasbeck syndrome comprising megaloblastic anemia, proteinuria, and multiple neurological abnormalities. A young Saudi child with spasticity, truncal ataxia, cerebral atrophy, megaloblastic anaemia and proteinuria is described. Replacement therapy with parenteral vitamin B12 resulted in the complete resolution of his neurological findings and brain atrophy.
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PMID:Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome. 194 Sep 89

The syndrome of abasia (gait disorder) and incontinence in old age is aetiologically ambiguous. If it is combined with an internal communicating hydrocephalus, it is necessary to think of the syndrome of malabsorption hydrocephalus and consequently of a drainage of the cerebro-spinal fluid. The indication for a shunt is defined with a diagnostic lumbar puncture, a cerebrospinal fluid scan, and if it is still uncertain, by continuous cerebro-spinal fluid pressure records. In a well-defined indication with the shunt, more than half of the patients would improve and about one third of them would have a very good recovery. However, a shunt operation on a patient with hydrocephalus ex vacuo (from cerebral atrophy) should be avoided since it could worsen the patient's condition. Therefore it is essential to discriminate clearly between these two very different types of hydrocephalus.
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PMID:[Hydrocephalus. Abesia--dementia--incontinence. Drain or not?]. 409 77

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

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.
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PMID:Familial primary hypomagnesemia complicated with brain atrophy and cardiomyopathy. 929 31