Metabolic diseases can vary as much in clinical presentation as they can in classification, and neonates and infants frequently present with symptoms similar to those seen with other emergencies. Vomiting, alterations in neurologic status, and feeding difficulties are the most prominent features of metabolic emergencies. This article discusses the recognition and management of specific disorder...

background: cytomegalovirus (cmv) infection is associated with significant maternal and fetal consequences. the aim of pre­sent study was to determine the current prenatal cmv seroprevalence in eastern azerbaijan and evaluate the routine labora­tory diagnostic techniques of anti-cmv immunoglobulin m (igm) and immunoglobulin g (igg). methods: during the present prospective cross-sectional study,...

BACKGROUND Sturge-Weber syndrome is a congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal angioma, and neurological disorders. Sturge-Weber syndrome can coexist with other disorders in a few patients; however, muscular abnormalities have not been reported in patients with Sturge-Weber syndrome. CASE PRESENTATION A Chinese girl presented with extensive po...

Universal newborn screening is quite well established in most of the developed countries. In India, the exact prevalence of various metabolic disorders is not known due to lack of any large scale multicentric study to screen metabolic disorders and absence of any organized system of universal newborn screening. Like other developing countries, India is facing an increasing challenge of noncommu...

Objective: Although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.Method: using panel neonatal screening for detection of metabolic diseases in 650 high risk Iranian patie...

Background Chronic liver diseases (CLD) in children represent a growing health problem with significant morbidity and mortality. This study aimed to define the clinicopathological pattern of pediatric CLD in Sohag University Hospital, Sohag,Upper Egypt. Materials and Methods A total of 151children with CLD were included in a prospective hospital-based study from June 2014 to May 2018. Cases of...

Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenes...