OBJECTIVES To examine the association of intrapartum temperature elevation with adverse neonatal outcome among low-risk women receiving epidural analgesia and evaluate the association of epidural with adverse neonatal outcome without temperature elevation. METHODS We studied all low-risk nulliparous women with singleton pregnancies ≥37 weeks delivering at our hospital during 2000, excluding p...

OBJECTIVES To review all patients with SCO2 mutations and to describe a Brazilian patient with cardioencephalomyopathy carrying compound heterozygous mutations in SCO2, one being the known pathogenic p.E140K mutation and the other a novel 12-base pair (bp) deletion at nucleotides 1519 through 1530 (c.1519_1530del). DESIGN Case report and literature review. SETTING University hospital. PAT...

how to cite this article: sanyal sh, duraisamy sh, garga chu. mri brain in evaluation of floppy children: a case series. iran j child neurol. autumn 2015; 9(4): 65-74. abstract objective hypotonia is a common clinical entity well recognized in pediatric age group, which demands experienced clinical assessment and an extensive array of investigations to establish the underlying disease process. ...

Received: 23.10.2015; Accepted: 30.03.2017 Fig. 1: MRI Brain (T2 Axial) showing typical molar tooth sign Fig. 2: MRI Brain (T2 Axial) showing bat wing appearance of fourth ventricle dysplasia of pontine and medullary structures such as the basis pontis, reticular formation, inferior olivary, dorsa l co lumn and so l i tary t rac t nuclei. Moreover, typical findings are represented by the lack o...

BACKGROUND Zellweger syndrome (ZS) is a fatal inherited disease caused by peroxisome biogenesis deficiency. Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial malformations. Median live expectancy of ZS patients is less than one year. While the molecular basis of peroxisome biogenesis and metabolism is kno...

INTRODUCTION McCune-Albright syndrome is a rare sporadic disease characterized by fibrous bone dysplasia, café-au-lait skin spots and variable hyperfunctional endocrinopathies. McCune-Albright syndrome is caused by somatic postzygotic activating mutations in the GNAS gene that produce a broad spectrum of effects. CASE PRESENTATION We report a case of McCune-Albright syndrome with multi-organ ...

A case of neonatal hemochromatosis in a 3-hour-old male is described. He presented with hypotonia, mild jaundice, and respiratory difficulty immediately after birth. He had no evidence of congenital infection, immune-related hemolysis or exogenous iron uptake. Postmortem examination revealed abnormal facial features. The organs were of normal weight for his age except a small liver and lungs, a...

Spinal muscular atrophy (SMA) is a autosomal recessive disease characterized by weakness, hypotonia and atrophy. SMA caused mutation or deletion of the survivor motor neuron gene (SMN1), which located in telomere region chromosome 5q13. Incidence 1:6000-10000 newborn. Confirmatory diagnosis can be established molecular genetic analysis. Here 2- month- old female baby was admitted into departmen...