Other Clinical Features

There is often mild blepharoclonus (fluttering of the closed eyelids) and occasionally blepharospasm (involuntary closure of the eyelids). The patient may drool, perhaps because of the impairment of swallowing. There is typically no alteration in the tendon reflexes, and the plantar responses are flexor. Repetitive tapping (about twice per second) over the bridge of the nose produces a sustained blink response (Myerson s sign) the response is not sustained in normal subjects. Cognitive decline sometimes occurs but is usually mild. 

The etiology of progressive death of dopaminergic neurons in substantia nigra of Parkinson s disease brains remains unclear. Dopamine deficiency in Parkinson s disease is commonly treated with L-dopa and carbidopa, a periphera dopa decarboxylase inhibitor (Sinemet). Since its introduction, L-dopa has been shown to be effective in treating Parkinson s disease. However, high concentrations of L-dopa produce side effects such as psychosis, on-off effects, abnormal involuntary movements, and akinetic crisis. 

By using microdialysis of substantia nigra it has been shown that L-dopa treatment produced a dose-dependent increase in output of nigral hydroxyl ( OH) radicals, which could be increased further with acute inhibition of mitochondrial complex I activity. Selegiline is able to attenuate the generation of hydroxyl radicals caused by enhanced turnover in the synthesis of striatal dopamine according to the following reactions. 

Irreversible MAO-B inhibitors, namely, banisterine and selegiline, are efficacious in the treatment of Parkinson s disease, and selegiline prolongs the action of L-dopa and enhances the life expectancy of patients suffering from Parkinson s disease. 

Selegiline is able to ameliorate depression associated with Parkinson s disease. However, selegiline is not effective in parkinsonian bradyphrenia. 

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It is an autoantibody whose autoantigen is the Fc portion of IgG. Rheumatoid factors may be of any immunoglobulin isotype but it is IgM rheumatoid factor that is commonly measured in rheumatoid arthritis. Classification criteria for rheumatoid arthritis include only one serological test, namely rheumatoid factor. However, it is not diagnostic test rather it may be confirmatory when a number of other clinical features are present. 

Severe symptomatology may mask other clinical features... 

Schaefer, E. J., Zech, L. A., Schwartz, D. E., and Brewer, H. B., Jr., Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease). Ann. Intern. Med. 93, 261-266 (1980). 

PKU is a serious lEM caused by a liver enzyme deficiency. In PKU, phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine, is defective. Several different mutations are responsible for altering or reducing the activity of the phenylalanine hydroxylase gene. Because PKU patients cannot make the pigment melanin, 90% of PKU patients are blond-haired with blue eyes. Other clinical features include seizures, a mousy body odor, and eczema. Left untreated, accumu-... 

In addition to the congenital anomalies, other clinical features may be responsible for disorders of the portal vein system ... 

Other clinical features Acquired associated with neuromuscular +... 

Other clinical features Autistic features Hypertonia Severe toxicity 5-FU +... 

Other clinical features Optic atrophy, scoliosis +... 

The other clinical feature of vitamin B deficiency, which is very rarely seen in folic acid deficiency, is degeneration of the spinal cord - hence the name pernicious for the anaemia of vitamin B deficiency. The spinal cord degeneration is due to a failure of the methylation of one arginine residue on myelin basic protein and occurs in about one-third of patients with megaloblastic anaemia due to vitamin B deficiency and in about one-third of patients who do not show signs of anaemia. 

In early infancy, patients with Conradi s syndrome exhibit an erythroderma covered with micaceous scales in a whorl and swirl pattern " ". The condition improves during the first year of life, and sometimes a follicular athropho-derma follows. Stippling of epiphyses, contractures of large joints, short limbs, ophthalmic defects and early death are the other clinical features. 

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