Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report

Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...

NEPHROPATHY CAUSED BY CHINESE HERBS IN IRAN

Hyperreactio Luteinalis with early-onset HELLP syndrome: A case report

Introduction: Hyperreactio Luteinalis (HL) is a rare benign condition in pregnancy which is characterized by bilaterally multicystic ovarian enlargement containing theca lutein cysts caused by increased production of hCG. HL is mostly associated with hydatidiform mole and multiple pregnancies. Correspondence: Azin Alavi, ...

Pediatric acute-onset neuropsychiatric syndrome in a 6.5-year-old boy: A case report

Background: “Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections”, or PANDAS, is a syndrome characterized by acute-onset obsessive-compulsive disorder (OCD) and/or tics accompanied by the neuropsychiatric symptoms. This case is reported because of its rarity. Case report: A 6.5-year-old boy with swollen tonsils, high-grade fever and rash was admitted to Ami...

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family

PURPOSE To identify a novel disease-causing mutation of the GJA3 (gap junction alpha-3 protein) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). METHODS One family was examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Genetic linkage analysis was performed on the known genetic loci for ADC...