Transcranial Doppler and Magnetic Resonance in Tanzanian Children With Sickle Cell Disease

Background and Purpose: We determined prevalences of neurological complications, vascular abnormality, and infarction in Tanzanian children with sickle cell disease. // Methods: Children with sickle cell disease were consecutively enrolled for transcranial Doppler; those with slightly elevated (>150 cm/s), low (150 cm/s was associated with frequent painful crises and low hemoglobin level. Absent/low CBFv was associated with low hemoglobin level and history of unilateral weakness. In 49 out of 67 children with low/absent/elevated transcranial Doppler undergoing magnetic resonance imaging, 43% had infarction, whereas 24 out of 48 (50%) magnetic resonance angiographies were abnormal. One had hemorrhagic infarction; none had microbleeds. Posterior circulation infarcts occurred in 14%. Of 11 children with previous seizure undergoing magnetic resonance imaging, 10 (91%) had infarction (5 silent) compared with 11 out of 38 (29%) of the remainder ( P=0.003). Of 7 children with clinical stroke, 2 had recurrent stroke and 3 died; 4 out of 5 had absent CBFv. Of 193 without stroke, 1 died and 1 had a stroke; both had absent CBFv. // Conclusions: In one-third of Tanzanian children with sickle cell disease, CBFv is outside the normal range, associated with frequent painful crises and low hemoglobin level, but not hemolysis. Half have abnormal magnetic resonance angiography. African children with sickle cell disease should be evaluated with transcranial Doppler; those with low/absent/elevated CBFv should undergo magnetic resonance imaging/magnetic resonance angiography

S.P.55 Transition and outcomes for young men with Duchenne muscular dystrophy in New South Wales

Duchenne muscular dystrophy (DMD) is a progressive disorder that affects 1 in 3500 males and that typically results in death between 20 and 35 years of age from respiratory or cardiac failure. International standards of care have been devised to guide the management of DMD patients. Due to its high incidence in all populations of the world and relatively homogeneous natural history, health outcomes in DMD provide a useful yardstick by which to assess neuromuscular services between regions. There is currently little data available on how males with DMD in NSW, Australia, fare in terms of health outcomes. Such data would provide health service providers important feedback about the effectiveness of neuromuscular services in NSW compared to other populations in Australia and overseas. This study was designed to conduct an audit of all paediatric and adult neuromuscular services in NSW to document the morbidity and mortality of patients with Duchenne muscular dystrophy in NSW in the last 10 years, and evaluate their transition experience to adult services. In addition we describe the current range of paediatric and adult neuromuscular services available in NSW and review the literature to identify and evaluate the effectiveness of different transition models that have been developed internationally and within Australia

Sickle cell disease and posterior reversible leukoencephalopathy

Sickle cell disease can present with neurological manifestations. One such presentation is with posterior reversible leukoencephalopathy also known as reversible posterior leukoencephalopathy. The condition is classically described as reversible over time; it commonly presents with oedematous changes involving the white matter of the occipital and parietal regions. Only a few patients with the association between sickle cell disease and posterior reversible leukoencephalopathy have been described in the adult literature. We present two patients from our institutions to emphasise the association between the two conditions and summarise the published cases in the literature