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1.
Indian J Hum Genet ; 2012 Jan; 18(1): 125-126
Article in English | IMSEAR | ID: sea-139459

ABSTRACT

Xeroderma pigmentosum–Cockayne syndrome (XP–CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP–CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP–CS, with facial phenotype of CS, and CNS demyelination.


Subject(s)
Child , /epidemiology , /genetics , Demyelinating Diseases/epidemiology , Demyelinating Diseases/genetics , Facial Asymmetry/diagnosis , Facial Asymmetry/genetics , Female , Humans , Xeroderma Pigmentosum/epidemiology , Xeroderma Pigmentosum/genetics
2.
Article in English | IMSEAR | ID: sea-17980

ABSTRACT

In view of therapeutic implications and problems in clinical diagnosis, this study sought to evaluate and identify histopathological features of acquired inflammatory demyelinating neuropathies and hereditary demyelinating neuropathies. Sural nerve biopsies from 41 patients of demyelinating neuropathies, diagnosed on the basis of accepted clinical criteria, were studied using routine histological staining and special stains for myelin and axons. Chronic inflammatory neuropathies differed from the acute ones in having more endoneurial connective tissue, less of subperineurial oedema and presence of axonal sprouting and occasional onion bulb formation. Acquired neuropathies differed from hereditary neuropathies in having a more localized involvement, endoneurial oedema and variable inflammatory cell infiltration, while in hereditary neuropathies Schwann cell proliferation was diffuse and relatively uniform. The frequency and degree of nerve thickening was more in hereditary neuropathy. Evidence of inflammation was not universal, both in the acute and the chronic inflammatory demyelinating neuropathies. Histopathological examination is essential as the clinical and electrophysiological features alone may not offer definitive diagnosis.


Subject(s)
Adult , Aged , Demyelinating Diseases/genetics , Female , Humans , Male , Middle Aged , Polyneuropathies/genetics
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