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COCKAYNE'S SYNDROME IN TWO SISTERS
Author(s) -
SRIVASTAVA R. N.,
GUPTA P. C.,
MAYEKAR G.,
ROY S.
Publication year - 1974
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1974.tb04831.x
Subject(s) - medicine , cockayne syndrome , pediatrics , atrophy , peripheral neuropathy , pathology , diabetes mellitus , endocrinology , biochemistry , nucleotide excision repair , chemistry , dna repair , gene
. Srivastava, R. N., Gupta, P. C., Mayekar, G. and Roy, S. (Departments of Paediatrics, Neurology and Pathology, All India Institute of Medical Science, New Delhi, India). Cockayne's Syndrome in two sisters. Acta Paediatr Scand, 63 461, 1974.–Clinical and laboratory data in two sisters with Cockayne's syndrome are presented. Both had severe dwarfiim and mental retardation and the elder girl (11 years) had senile facies, optic atrophy and intracranial calcification. The serum cholesterol values were elevated. Peripheral neuropathy was found in both cases, evidenced by slow nerve conduction velocities. Examination of sural nerve biopsies showed focal demyelination with preservation of axis cylinders. These observations support the concept of Cockayne's syndrome being a leucodystrophy.