MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.

We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori-neural deafness, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome. MEGDEL syndrome was recently found to be caused by mutations in SERAC1, encoding a protein essential for mitochondrial function, phospholipid remodeling, and intracellular cholesterol trafficking. We identified a novel homozygous mutation in SERAC1 gene (c.1018delT) that generates frame shift and premature termination of protein translation. Plasma and cerebrospinal fluid lactate, plasma alanine, and respiratory chain complexes in fresh muscle were normal. This report further expands the genetic spectrum of MEGDEL syndrome and adds to the evidence that it is associated with variable patterns of respiratory chain abnormalities.

Intrauterine upper limb ischemia: an unusual presentation of fetal thrombophilia-a case report and review of the literature.

Upper limb ischemia presenting in neonatal period is extremely rare. Moreover, presenting newborn with evidence of intrauterine upper limb vascular occlusion is even rarer. It needs prompt intervention to restore perfusion and avoid morbidity. We present a newborn with right upper limb brachial artery thrombosis causing ischemia that was noted at birth and appeared later to be homozygous for factor V Leiden and glycoprotein IIIa with no other identifiable risk factors. In this report, we present the case, its successful medical management, proper counseling, and review of the literature. We recommend investigating the neonates and their parents for thrombophilia mutations when they present with unusual vascular occlusion site as newborns.

Depression impairs learning whereas anticholinergics impair transfer generalization in Parkinson patients tested on dopaminergic medications.

In a study of acquired equivalence in Parkinson disease (PD), in which patients were tested on normal dopaminergic medication, we found that comorbid clinical depression impairs initial acquisition, whereas the use of anticholinergic therapy impairs subsequent transfer generalization. In addition, this study provides a replication of the basic finding of Myers et al (2003) that patients with PD on dopaminergic therapy are impaired at initial acquisition, but normal at subsequent transfer generalization, generalizing these results to an Arabic-speaking population including many participants with no formal education. These results are consistent with our past computational modeling, which argues that acquisition of incrementally acquired, feedback-based learning tasks is dependent on cortico-striatal circuits, whereas transfer generalization is dependent on medial temporal (MT) structures. They are also consistent with prior computational modeling, and with empiric work in humans and animals, suggesting that anticholinergic drugs may particularly impair cognitive abilities that depend on the MT lobe.