[Stroke in a child due to hemoglobinopathy AS].

BACKGROUND

Falciform cell anaemia is a genetically determined haemoglobinopathy which in homozygote form (HbSS) is accompanied by neurological disorders in a quarter of the patients, mainly in the form of cerebral ischemia. Some authors consider the heterozygote (HbAS) form to be asymptomatic, although several such patients have been described with stroke.

METHODS

A white boy of 5 years of age had a cerebral infarct whilst travelling by car from his home town (222 meters above sea level) to the capital of the country (which is 2,600 meters above sea level). During the journey he complained of headache, vomiting and the onset of right hemiplegia. Angio-MR and CT showed the characteristic features of an infarct. SPECT showed hypoperfusion of left frontal predominance and of the basal ganglia bilaterally, but with left-sided predominance. Electrophoresis studies of his haemoglobin showed the present of AS haemoglobinopathy. We present the results of investigations done and a review of the literature.

CONCLUSIONS

AS haemoglobinopathy, together with hypoxia due to altitude and possibly slight dehydration, were probably the causes of our patient's cerebral infarct. We recommended electrophoresis of haemoglobin in all patients (especially children and young adults) who present with stroke.