BACKGROUND Though several studies have reported the incidence of intraspinal neural axis abnormalities in infantile and juvenile "presumed idiopathic" scoliosis, there has been a varying prevalence ranging from 11.1 to 26.0% based on a limited sample size. Therefore, such inconclusive findings have resulted in some questions on the MRI-associated role in the management of these patients. We aim...

OBJECTIVE To review the result of the infantile spasms' treatment with sodium valproate followed by nitrazepam or clonazepam. STUDY DESIGN Descriptive retrospective study. SETTING Srinagarind Hospital, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand. MATERIAL AND METHOD Twenty-four infantile spasms admitted between January 1994 and December 2003 we...

Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia. Complications associated with morbid obesity are recognized as the main risk factors for death the lifespan of patients with Prader-Willi syndrome. We experien...

BACKGROUND This study was conducted to describe the clinical and genetic features of patients with late infantile metachromatic leukodystrophy. METHODS Clinical and genetic manifestations of five Taiwanese patients with late infantile metachromatic leukodystrophy from January 2003 to April 2014 were reviewed. The genetic features of such patients reported in Asian countries during a period of...

The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with mitochondrial DNA depletion and encephalopathy or hepatoencephalopathy. The latter clinical phenoty...

To the Editors: I read with interest the article, “Analysis of Risk Factors for Consecutive Exotropia and Review of the Literature” by Yurdakul and Ugurlu.1 The authors are to be congratulated in documenting their findings of increased risk factors for the development of consecutive exotropia such as anisometropia, amblyopia, and postoperative adduction defects. The authors reported that “no at...

The presence of peroxisomal membrane ghosts was examined in liver biopsies from eleven patients presenting the clinical and biochemical picture of a generalized peroxisomal disorder (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease and variants of these syndromes). A polyclonal antibody raised against the membrane of human liver peroxisomes and recognizing a 43 kDa pe...

PURPOSE Infantile esotropia is associated with abnormal visual development and thus may delay the achievement of developmental milestones. Although early surgery can improve visual function, less is known about its effect on motor development. Here we address whether early surgery can improve motor development. METHODS Recently, our lab devised the Infant Developmental Skills Survey, a 25-ite...