Proteinuria in Two Sisters with Beaulieu-Boycott-Innes Syndrome, A Case Report.

We report two sisters (13- and 4-year-old) presenting with moderate intellectual disability, dysmorphic facial features, intermittent hematuria, proteinuria, and dental caries. Their parents and other family members were not affected. Whole-exome sequencing was performed to screen the underlying genetic cause.

Epidemiological, Clinical, and Laboratory Characteristics of Acute Disseminated Encephalomyelitis in Children: A Retrospective Study.

Objectives: We aimed to study the precipitating factors, demographic data, clinical and radiological manifestations, electroencephalography and laboratory findings, as well as association with infections, immunization and incidence of relapse of acute disseminated encephalomyelitis (ADEM) in children admitted to Mofid Children Hospital, Tehran, Iran from Mar 2013 to Mar 2016.

Materials & Methods: A 3-yr retrospective review of 29 children with definite final diagnosis of ADEM in Mofid Hospital in Tehran, Iran was performed. The diagnosis was based on specified criteria, including a presumed acute demyelinating process with no history of unexplained neurological symptoms and at least one demyelinating lesion shown on magnetic resonance imaging without evidence of previous destructive white matter lesions.

Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression.

Objective: Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children.

Materials & Methods: Two-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed.

Ataxia in Childhood: Epidemiological, Clinical and Neuroradiologic Features, and the Risk of Recurrence.

Objective: This study was conducted on the demographic data, clinical characteristics, electroencephalography, neuroradiological findings, and their impact on the recurrence of ataxia.

Materials & Methods: A 3-yr retrospective review of 49 children with ataxia in Mofid Children Hospital, Tehran, Iran was conducted from Apr 2013 to Apr 2016. The demographic, clinical and paraclinical data were recorded in pre-prepared questionnaires.