OBJECTIVE Magnesium historically has been used for treatment and/or prevention of eclampsia or preterm labor. More recently, antepartum magnesium sulfate has been suggested for prevention of cerebral palsy in preterm infants. Although adverse effects and toxicity of magnesium in pregnant women are well known, the fetal-neonatal effects of magnesium are less clear. The objective of this study wa...

BACKGROUND The Ehlers-Danlos syndrome type VI (EDSVI) is an autosomal recessive connective tissue disease which is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity and fragility, joint hypermobility and (sub-)luxations, microcornea, rupture of arteries and the eye globe, and osteopenia. The enzyme collagen lysyl hydroxylase (LH1) is deficient in these...

ehlers-danlos syndrome (eds vi)(omim 225400) is an autosomal recessive disease of the connective tissue. it is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity, joint hypermobility, microcornea, rupture of arteries and eye globe, and osteopenia. collagen lysyl hydroxylase is deficient in these patients. deficiency of the activity of lysyl hydroxylase,...

Background Systemic carnitine deficiency may present with apnea, hypotonia, and poor growth. Premature infants often manifest these symptoms and are at risk of developing carnitine deficiency because of immaturity of the biosynthetic pathway, lack of sufficient predelivery transplacental transport, and lack of sufficient exogenous supplementation. Objective This study was undertaken to examine ...

Case presentation: Patient was the first child of non-consanguineous parents whose father healthy, but mother had mild intellectual deficiency and spastic paraparethic gait that been attributed to cerebral palsy. At birth he presented congenital talipes equinovarus. He began crawl at 1yo never able walk independently despite orthopedic feet correction. 1yo, leukocoria in left eye noticed. Bilat...

Case presentation: Full-term newborn with reduced fetal movements during pregnancy, elective cesarean section, first child of a non-consanguineous couple no family history neurological disease. Apgar 5–5, severe respiratory distress, cyanosis and cardiorespiratory arrest. He required cardiopulmonary resuscitation mechanical ventilation, persisting hypotonia. On examination, facial hypomimia car...

This article postulates that movement and action control are the underpinning of executive functioning. We selectively examine brain regions that have traditionally been almost exclusively understood as critical to the control and expression of movement-namely, the basal ganglia and the cerebellum. We first describe the relationship between movement and cognition. This is followed by a review o...