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THE LESCH‐NYHAN SYNDROME
Author(s) -
Holt Kenneth S.
Publication year - 1969
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.1969.tb01452.x
Subject(s) - citation , shaken baby syndrome , lesch–nyhan syndrome , psychoanalysis , psychology , library science , medicine , computer science , poison control , injury prevention , child abuse , medical emergency , hypoxanthine guanine phosphoribosyltransferase , mutant , gene , biochemistry , chemistry
Several other children with the syndrome have done this, and many of the younger children show ‘pre-diabetic’ glucose-tolerance tests by the criteria and methods of FAJANS and CONN.~ The diabetes is of the adult maturity onset type to be expected in a fat person and can be controlled by diet alone. Attempts to prevent it by dieting during childhood fail because these children will steal food rather than bant. The cause of the syndrome is unknown. DUN” has drawn attention to the frequency of (diverse) associated chromosomal abnormalities, and his paper is a mine of information on inconclusive investigations which have rightly been pursued in the search for enlightenment. There is something to be said, as a hypothesis, for throwing suspicion on the hypothalamus as being implicated in a syndrome comprising overeating, obesity, small stature, hypogenitalism and delayed puberty. Department of Paediatrics, Guy’s Hospital, London, S.E. 1 . P. R. EVANS