Familial neurodegenerative disorder associated with raised urinary vanillylmandelic acid.

Abstract:

:We report a child who presented with a progressive neurological disorder associated with hypertension and paroxysms of irritability and sweating in whom an abnormality of catecholamine metabolism or excretion was demonstrated. An elder sister died at the age of 2 1/2 years with similar clinical symptoms but without blood pressure or catecholamine excretion being recorded. The exact mechanism of the disturbance of catecholamine excretion was not identified in our patient but some slight improvement in hypertension and arrest of his neurological deterioration was noted when he was put on a low tyramine diet. It is suggested that our patient may well suffer from a familial neurodegenerative disorder in which an abnormality of catecholamine metabolism or excretion is a feature.

journal_name

Arch Dis Child

authors

Young I,Hosking GP

doi

10.1136/adc.53.8.682

subject

Has Abstract

pub_date

1978-08-01 00:00:00

pages

682-3

issue

8

eissn

0003-9888

issn

1468-2044

journal_volume

53

pub_type

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