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An unusual case of chronic renal failure

Department of Medicine, Peterborough District Hospital, Peterborough PE3 6DA, UK

Correspondence to:
Correspondence to:
Dr Manoj;
manojal@hotmail.com

Submitted 16 February 2001
Accepted 15 May 2001

Keywords: Fabry's disease; chronic renal failure

A previously healthy 47 year old driver presented with a six week history of headache, vomiting, tiredness, and unsteadiness of feet. Examination revealed marked pallor, the pulse was regular at 97 beats/min, blood pressure was raised at 180/116 mm Hg, and the minimental test score was 6/10. The cranial nerves were normal, as was his power in all four limbs. Bulk and tone were normal, but all the deep tendon reflexes were brisk. Sensation were intact. The finger, nose, and heel shin test were normal. Gait was wide based. Cardiovascular examination revealed a short ejection systolic murmur at the mitral area. The rest of the clinical examination was unremarkable.

Investigations on admission revealed a normochromic, normocytic anaemia with a haemoglobin of 86 g/l, and a normal white cell and platelet count. His erythrocyte sedimentation rate was raised at 38 mm in the first hour. The patient had . . . [Full text of this article]