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Pathological findings in homocystinuria
  1. J. B. Gibson1,
  2. Nina A. J. Carson,
  3. D. W. Neill2
  1. Department of Pathology, The Queen's University of Belfast, Belfast
  2. Department of Child Health, The Queen's University of Belfast, Belfast
  3. Biochemistry Laboratory, The Queen's University of Belfast, Belfast
  4. Royal Belfast Hospital for Sick Children, and Royal Victoria Hospital, Belfast


    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.

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    • 1 Present address: Department of Pathology, the University of Hong Kong

    • 2 Reprints will be available from D. W. Neill, Royal Victoria Hospital, Belfast.