Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.16.3.1 (ceruloplasmin)
 5,074 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors present a 60-year-old patient undergoing periodic hemodialysis who, 3 years after beginning the treatment, developed a clinical picture consisting of disturbances of language, motor dispraxia, loss of memory and concentration, irritability, great change of personality, myoclonias and asterixis. This led progressively to a total loss of motor coordination, including speech. He died 5 months later in a state of dementia, psychosis and incontinence of sphincters. The symptomatology increased after hemodialysis sessions. The normal analytical studies carried out in these cases (electrocardiogram, electromyography, complete roentgenologic study) and also Zn, Cu, and ceruloplasmin measurements were normal. The electroencephalogram showed only a slow tracing with delta waves. Various etiopathogenic possibilities are commented on, as for example alterations in the dialysis water, the use of detergents in cleaning the artificial kidney, a syndrome of imbalance, a decrease in the body potassium and poisoning caused by certain metals such as tin, zinc and aluminium or by drugs which contain benzodiazepine derivatives. The authors conclude that the picture corresponds to a metabolic encephalopathy.
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PMID:[Dementia and hemodialysis (author's transl)]. 43 Nov 64

We report a 20-year-old female with Hallervorden-Spatz syndrome (HSS). This patient is the product of consanguineous parents. She developed genu valgum, tendency to fall and mental deterioration at the age of 6, decrease of the number of spoken words at the age of 14, dysarthria, unsteady gait, postural tremor of the upper extremities, dystonic posture of hands and double incontinence at the age of 16. Her disease progressed slowly. Neurological examination on admission revealed severe mental retardation, optic atrophy, forced grasping, hyperactive tendon reflexes in the upper extremities and bilateral Babinski sign. An extensive laboratory investigation including the leukocyte lysosomal enzymes, serum amino acid analyses, copper studies and ceruloplasmin were almost within normal limits. MRI, T2 weighted images, showed markedly decreased signal intensity in the globus pallidus but substantia nigra and increased signal intensity in diffuse cerebral white matter. T1 weighted images showed marked atrophy of the brainstem and cerebellum. She met the diagnostic criteria for HSS by Swaiman; we diagnosed her as HSS group II. HSS is characterized by the presence of many spheroids in the central nervous system which is similar to neuroaxonal dystrophy (ND). However, clinical and pathological differences exist between HSS and ND, the precise classification of the two conditions has remained controversial. Although there are many reported cases in which both conditions overlap, this is the first reported case that simultaneously demonstrates increased iron deposition in the globus pallidus, marked atrophy of the brainstem and cerebellum and typical clinical course compatible with HSS.
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PMID:[A case of Hallervorden-Spatz syndrome with marked atrophy of the brainstem and cerebellum]. 836 59