PATHOLOGICAL FINDINGS IN HOMOCYSTINURIA.

Abstract:

:Pathological findings are described in four cases of a new aminoaciduria in which homocystine is excreted in the urine. All the patients were mentally retarded children. Three of them presented diagnostic features of Marfan's syndrome. Necropsy on one case and biopsy findings in the others are described. Fatty change occurs in the liver. The most striking lesions are vascular. Metachromatic medial degeneration of the aorta and of the elastic arteries in the necropsied case are considered in relation to Marfan's syndrome. Other changes, particularly thrombosis which is prevalent in homocystinuria, suggest the possibility of a platelet defect. The findings are discussed in respect of an upset in the metabolism of sulphur-containing amino-acids and with particular reference to Marfan's syndrome.

journal_name

J Clin Pathol

authors

GIBSON JB,CARSON NA,NEILL DW

doi

10.1136/jcp.17.4.427

keywords:

subject

Has Abstract

pub_date

1964-07-01 00:00:00

pages

427-37

eissn

0021-9746

issn

1472-4146

journal_volume

17

pub_type

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