Chen Hoffmann

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BACKGROUND AND PURPOSE Human prion diseases are known to cause gray matter degeneration in specific cerebral structures, but evidence for white matter involvement is scarce. We used DTI to test the hypothesis that white matter integrity is disrupted in human CJD during the early stages of the disease. MATERIALS AND METHODS Twenty-one patients with the(More)
OBJECTIVE To present the magnetic resonance imaging features, clinical findings, and possible embryologic bases for nonterminal myelocystoceles, a distinct subset of closed spinal dysraphisms. METHODS We retrospectively analyzed imaging series and clinical records from five newborns and one older child with skin-covered soft tissue masses along the(More)
Isolated sulfite oxidase deficiency is a rare genetic neurometabolic disease. The first symptoms of this disorder (similar to symptoms of ischemic events) may lead to misdiagnosis and to subsequent birth of affected children in these families. This study characterizes the magnetic resonance (MR) imaging and (for the first time, to our knowledge) the MR(More)
OBJECTIVE Between October and November 2003, several infants with encephalopathy were hospitalized in pediatric intensive care units in Israel. Two died of cardiomyopathy. Analysis of the accumulated data showed that all had been fed the same brand of soy-based formula (Remedia Super Soya 1), specifically manufactured for the Israeli market. The source was(More)
BACKGROUND AND PURPOSE Thiamine deficiency is extremely rare in infants in developed countries. To our knowledge, its MR findings in the brain have not been reported. The purpose of this study was to investigate the brain MR findings in infants with encephalopathy due to thiamine deficiency. METHODS The study group included six infants aged 2-10 months(More)
The essential micronutrient selenium is found in proteins as selenocysteine (Sec), the only genetically encoded amino acid whose biosynthesis occurs on its cognate tRNA in humans. In the final step of selenocysteine formation, the essential enzyme SepSecS catalyzes the conversion of Sep-tRNA to Sec-tRNA. We demonstrate that SepSecS mutations cause(More)
BACKGROUND AND PURPOSE The E200K mutation of the PRNP (prion protein) gene is the most common cause of familial Creutzfeldt-Jakob disease (fCJD), which has imaging and clinical features that are similar to the sporadic form. The purpose of this study was to conduct a controlled and blinded evaluation of the sensitivity and specificity of MR imaging in this(More)
OBJECTIVE To evaluate the outcome of pregnancies with proven and well-dated primary cytomegalovirus (CMV) infection with and without abnormal fetal ultrasound and magnetic resonance imaging (MRI) findings. METHODS This was a prospective study of 38 singleton pregnancies with proven vertical transmission of CMV and prenatal ultrasound and MRI examinations.(More)
Creutzfeldt–Jakob Disease (CJD) is characterized by bilateral basal ganglia hyperintensities on T2W and diffusion-weighted imaging (DWI) magnetic resonance imaging (MRI) scans, consistent with its extrapyramidal neurological manifestations. MRI is diagnostically uninformative about the cerebellar symptoms, equally prominent in CJD. This study was undertaken(More)
OBJECTIVES To compare the outcomes of fetuses with apparently isolated macrocephaly and those with associated findings, and to compare prenatal findings with postnatal diagnoses in children with syndromic macrocephaly. METHODS We reviewed the files of all patients referred for suspected fetal macrocephaly, during a 10-year period from 2000, to a large(More)