Perfusion CT helps decision making for thrombolysis when there is no clear time of onset.

Current guidelines on thrombolysis post stroke with recombinant tissue plasminogen activator (rt-PA) exclude its use where time of onset is unknown, thus denying some patients potentially beneficial treatment. Contrast enhanced perfusion computed tomography (pCT) imaging can be used together with plain CT and information on clinical deficits to decide whether or not thrombolysis should be initiated even though the exact time of stroke onset is unknown. Based on the results of pCT and CT, rt-PA was administered to two patients with unknown time of stroke onset; one of the patients also underwent suction thrombectomy. Results in both cases were excellent.

X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

OBJECTIVES: The syndrome of X-linked sideroblastic anaemia with ataxia is rare, described only twice in the literature. The aim was to obtain clinical neurological and haematological data about this rare syndrome throughout adult life. METHODS: A family is described with two affected brothers and two affected maternal uncles. The family was evaluated clinically. Haematological investigations included full blood count, blood film, iron studies, free erythrocyte protoporphyrin (FEP) concentrations and a bone marrow examination where possible. RESULTS: Core neurological features included motor delay, ataxia evident from early childhood, and dysarthria. Neurological features were non-progressive until the fifth decade when slow progression became evident. Some family members showed mild spasticity. Patients usually have a mild asymptomatic anaemia or a borderline decreased mean corpuscular volume. Blood film examination showed Pappenheimer bodies. Bone marrow examination showed ring sideroblasts, indicating raised erythrocyte iron. Free erythrocyte protoporphyrin (FEP) concentrations were raised. CONCLUSIONS: Haematological features are subtle and can be easily overlooked, and individual patients may not display all the abnormal features. X-linked ataxias are rare and incorrect genetic advice may be given if the diagnostic haematological features of X-linked sideroblastic anaemia are overlooked. Males with early onset ataxia should have a haematological evaluation including a blood film, with a bone marrow examination if abnormal blood count indices and measurement of FEP concentrations raise suspicion. The condition has parallels with Pearson's syndrome and Friedreich's ataxia. All three conditions are associated with mitochondrial iron handling defects and ataxia. The human ATP binding cassette gene (hABC7) is a candidate gene and requires further investigation.