Journal of child neurology
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Loeys-Dietz syndrome is a rare connective tissue disorder characterized by cardiovascular, craniofacial, skeletal, and neurocognitive abnormalities. Recurrent headaches may constitute the neurological presentation of Loyes-Dietz syndrome in the absence of an intracranial aneurysm, subarachnoid hemorrhage, or dissection. The etiology of headaches occurring in Loeys-Dietz syndrome can be diverse but underrecognized and underreported. ⋯ Migraine, Chiari I malformation, and spontaneous intracranial hypotension are known features of Loeys-Dietz syndrome and these 3 children will require serial angiographic monitoring for development of intra- and extracranial dissections and aneurysms and appropriate interventions to forestall neurologic complications. It is important to raise awareness of headaches in this population so that appropriate counseling can be given to the child and parents at diagnosis. The neurology community must familiarize itself with the phenotype of the disease for earlier recognition and meticulous surveillance for optimum care for these patients.
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The purpose of this study is to investigate the surgical results and long-term outcomes of encephaloduroarteriosynangiosis for moyamoya disease in pediatric patients. We performed a retrospective analysis of 67 pediatric patients with moyamoya disease who underwent encephaloduroarteriosynangiosis in Beijing Tiantan Hospital. The case series included 36 boys and 31 girls. ⋯ During follow-up, ischemic stroke events were detected in 5 patients and the stroke rate for pediatric patients who underwent encephaloduroarteriosynangiosis procedure was 7.1% per patient-years. At the last follow-up, favorable outcomes (modified Rankin Scale score ≤ 2) were observed in 65 cases (97.0%). Our study suggests that long-term surgical outcome of encephaloduroarteriosynangiosis in pediatric moyamoya disease patients is satisfactory, and this technique has a positive impact on the prevention of stroke recurrence.
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Inherited leukodystrophies are a group of diseases affecting central nervous system myelin that lead to death or significant health problems. Although for most leukodystrophies there are no curative treatments, for a handful of diseases hematopoietic stem cell transplantation (HSCT; bone marrow transplant) can stop disease progression, and if initiated in a timely fashion, prevent many or all neurologic and other systems involvement. However, HSCT is a complex procedure with significant morbidity and mortality risks. ⋯ HSCT was performed at 20 of the hospitals, with the majority performed at only 6 hospitals. Average costs ($786 846) per patient were more than 6 times higher than patients who did not have HSCT. The data show that an unexpectedly large number of leukodystrophy patients are receiving transplants for conditions in which HSCT is not typically used, and which are associated with high medical costs.