BACKGROUND: Stroke is a potentially fatal complication of sickle cell disease in children between 2-16 years and transcranial Döppler has been recommended as a screening method in these cases. OBJECTIVE: The main goal of this study was to correlate transcranial Döppler results to complications related to stroke in sickle cell disease and baseline characteristics of the population. METHODS: This was an observational study of children and adolescents with ages between 2-16 years with sickle cell disease who were followed in three centers. RESULTS: From January 2008 to July 2009, 902 patients were enrolled in this study. The median age was 6.5 years (range: 1.8-15.8), 52.3% were male, 74.4% had hemoglobin SS; 221 (28.6%) had at least one complication associated with sickle cell disease. A total of 773 patients performed transcranial Döppler; in 91.2% this was a method of screening. Conditional or abnormal transcranial Döppler results were more common in patients with sickle cell disease complications versus those without complications (ODDS ratio = 3.18; 95% Confidence interval = 1.92-5.27). There was a significant difference in the frequency of conditional or abnormal transcranial Döppler results in patients with abnormal laboratory results compared to those without abnormalities (OR=4.03); 95% confidence interval = 2.30-7.06. CONCLUSIONS: Conditional or abnormal transcranial Döppler results were significantly more frequent in patients with complications of sickle cell disease confirming the increased risk of stroke in this subgroup of patients. This observation reinforces the recommendation of transcranial Döppler as a screening test for all patients with sickle cell disease with ages between 2 and 16 years.

Avaliar o papel da talassemia alfa (-α3.7kb), dos haplótipos da globina βS, e mutações nos genes da metileno-tetrahidrofolato redutase (MTHFR-C677T), fator V de Leiden (FV-G1691A) e protrombina (PT-G20210A) como fatores de risco para a doença cerebrovascular em pacientes com anemia falciforme. Foi realizado um estudo de caso controle com 94 crianças portadoras de anemia falciforme, 24 com doença cerebrovascular (DCV) e 70 sem DCV como grupo controle. A frequência de talassemia -α3.7kb foi semelhante em ambos os grupos (p=0,751). Crianças portadoras do haplótipo Bantu/Atípico da globina βS apresentam 15 vezes mais chances de desenvolverem DCV (OR=15,4 IC 95% 2,9-81,6) do que os outros haplótipos. A frequência do polimorfismo MTHFR-C677T foi semelhante em ambos os grupos (p=0,085) e não foi observada mutação nos genes fator V e protrombina. Estudos com maior número de casos são necessários para esclarecer o papel desses polimorfismos genéticos na nossa população.

The aim of the present work was to examine possible genetic risk factors related to the occurrence of cerebrovascular disease (CVD) in Brazilian population, the frequency of βS-globin gene haplotypes and co-inheritance with α-thalassemia (-α3.7kb) and single nucleotide polymorphism of methylenetetrahydrofolate reductase (MTHFR-C677T), Factor V Leiden (FV-G1691A) and prothrombin (PT-G20210A) genes in children from Rio de Janeiro. Ninety four children with sickle cell anemia (SCA) were included, 24 patients with cerebrovascular involvement and 70 patients without CVD as control group. The mean age of children at the time of the cerebrovascular event was similar to the control group. The frequency of -α3.7kb thalassemia was similar in both groups (p=0.751). Children with Bantu/Atypical βS-globin gene haplotype presented 15 times more chance (OR=15.4 CI 95% 2.9-81.6) of CVD than the other βS-globin gene haplotypes. The C677T polymorphism of MTHFR gene was similar in both groups (p=0.085). No mutation in the FV Leiden or PT genes was found. A large study seems necessary to establish the role of these genetic polymorphisms in Brazilian miscegenated population.

BACKGROUND: Sickle cell disease is the most common monogenic hereditary disease in Brazil. Although strokes are one of the main causes of morbidity and mortality in these patients, the use of transcranial Doppler to identify children at risk is not universally used. OBJECTIVE: To develop Brazilian guidelines for the use of transcranial Doppler in sickle cell disease children and adolescents, so that related health policies can be expanded, and thus contribute to reduce morbidity and mortality. METHODS: The guidelines were formulated in a consensus meeting of experts in transcranial Doppler and sickle cell disease. The issues discussed were previously formulated and scientific articles in databases (MEDLINE, SciELO and Cochrane) were carefully analyzed. The consensus for each question was obtained by a vote of experts on the specific theme. RESULTS: Recommendations were made, including indications for the use of transcranial Doppler according to the sickle cell disease genotype and patients age; the necessary conditions to perform the exam and its periodicity depending on exam results; the criteria for the indication of blood transfusions and iron chelation therapy; the indication of hydroxyurea; and the therapeutic approach in cases of conditional transcranial Doppler. CONCLUSION: The Brazilian guidelines on the use of transcranial doppler in sickle cell disease patients may reduce the risk of strokes, and thus reduce the morbidity and mortality and improve the quality of life of sickle cell disease patients.

Mielopatia associada ao HTLV-I / paraparesia espástica tropical (MAH/PET) é possivelmente a mielopatia crônica progressiva mais comum no Brasil. Apresentamos o caso de um homem de 53 anos que, a despeito de preencher critérios clínicos e sorológicos para MAH/PET, exibia à ressonância magnética de coluna evidências de siringo-hidromielia de níveis C6-C7 e D2-D7, além de malformação de Chiari tipo 1. Acreditamos que o quadro clínico seja devido à MAH/PET e não à siringo-hidromielia, esta, possivelmente, assintomática. Este caso demonstra que dados sorológicos e de neuroimagem devem sempre ser utilizados judiciosamente para o diagnóstico final de pacientes com suspeita de ambas as enfermidades. Concluímos que, particularmente em locais onde o HTLV-I seja endêmico, todo paciente com paraparesia espástica, mesmo com evidências radiológicas de lesão estrutural medular, deva ser submetido a avaliação sorológica para o HTLV-I. O quadro clínico deverá ser prioritário no estabelecimento do diagnóstico final.

Human T-cell lymphotropic virus type I (HTLV-I) associated myelopathy / tropical spastic paraparesis (HAM/TSP) is the most common chronic myelopathy in Brazil. We present the case of a 53 year old man that fulfilled the diagnostic criteria for HAM/TSP but had at the magnetic resonance imaging (MRI) of the spinal cord evidences of syringohydromyelia at the C6-C7 and D2-D7 levels along with Chiari type 1 malformation. The clinical picture was more typical of HAM/TSP than of syringohydromyelia, which was probably asymptomatic. The present case clearly demonstrates that serology and neuroimaging should be always used together. We conclude that, specially in places where HTLV-I is endemic, every patient with a spastic paraparesis, even with a radiological picture suggestive of a structural spinal cord lesion, should have a screening test for HTLV-I. The clinical picture must dictate the final direction of the diagnosis.