Two patients with the XXXXY syndrome are presented. Both boys are mentally retarded with short stature, muscular hypotonia, and hypogonadism. A constant feature of this syndrome is a varying degree of epiphysial dysplasia probably secondary to hypotonia and growth deceleration.

how to cite this article: taghdiri mm. type 2 gaucher disease (acute infantile gaucher disease or neuropathic type). iran j child neurol autumn 2012; 6:4 (suppl. 1):12.   pls see pdf.

BACKGROUND There are multiple potential regulators of neonatal vitamin D status of environmental, genetic, and epigenetic origins. The relation between these factors and circulating neonatal vitamin D has yet to be fully characterized. OBJECTIVE The aim of this study was to examine the relative contribution of genetic factors, maternal circulating 25-hydroxyvitamin D [25(OH)D] concentrations,...

Myasthenia gravis is an acquired chronic autoimmune disorder caused by decrease in functioning of acetylcholine receptors at the neuromuscular junctions owing to their destruction or inactivation by circulating antibodies. Disease manifests in the form of easy fatigability, weakness, difficulty in swallowing and even paralysis of respiratory muscles necessitating assisted ventilation. The clini...

The additional sex combs like 3 gene is considered to be causative for the rare Bainbridge-Ropers syndrome (BRPS), which is characterized by severe intellectual disability, neonatal hypotonia, nearly absent development of speech and language as well as several facial dysmorphisms. Apart from disruptive autistiform behaviors, sleep disturbances and epileptic phenomena may be present. Here, a 47-...

Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthis...

SECTION 1 A female infant was delivered via cesarean section at 39 weeks’ gestation to a 40-year-old mother. Pregnancy was notable for normal fetal movement and amniotic fluid indices. Apgar scores were 7 and 8 at 1 and 5 minutes. Shortly after birth, the infant developed respiratory distress and apnea that resolved with repositioning of her neck and trunk. General examination was remarkable fo...

inborn errors of organic acid metabolism are relatively recently recognized diseases with a wide spectrum of clinical signs and symptoms: ranging from asymptomatic, normal appearing children to death during first few days of life.in my presentation i will try to explain some of the most common clinical presentation of these disorder with stress on neurologic findings. organic acidemia usually h...

Corresponding author: Kwang Rae Cho, M.D., Department of Anesthesiology and Pain Medicine, Busan Paik Hospital, College of Medicine, Inje University, Gaegeum 2-dong, Busanjin-gu, Busan 614-735, Korea. Tel: 82-51-890-6520, Fax: 82-51-898-4216, E-mail: [email protected] This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// c...

Severe asymmetrical hypertrophic cardiomyopathy without heart block accompanied by neuromuscular hypotonia and feeding difficulties was evident shortly after birth in the second child of a mother with systemic lupus erythematosus who had no indication of gestational diabetes. High-level anti-ribonucleoprotein (RNP) and Smoth (Sm) antibodies arising from transplacental transfer of maternal antib...