A case of atypical systemic primary carnitine deficiency in Saudi Arabia

Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During infancy, patients might show episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia. Skeletal myopathy, elevated creatine kinase, and cardiomyopathy are the main manifestations in children with SPCD, while in adults, the disorder is usually manifested as cardiomyopathy, arrhythmias, or fatigability. Here, we report a 5-year-old boy with SPCD that presented as dilated cardiomyopathy with atypical features, such as anemia, respiratory distress, and proximal muscle weakness. This report supports considering carnitine deficiency treatment in the work-up of unexplained pediatric dilated cardiomyopathy

Kabuki Syndrome with Chiari malformation type II: A case report

Kabuki syndrome is a rare genetic disorder, characterized by typical facial features, hypotonia, developmental delay and intellectual disabilities. We report here a Saudi female infant diagnosed as a case of Kabuki syndrome clinically and confirmed by molecular genetic testing. She was admitted at birth to neonatal ICU due to hydrocephalus and meningomyelocele and found to have Chiari malformation type II on radiological evaluation of the brain. Whole exome sequencing (WES) was sent for her and showed pathogenic variant in KDM6A which confirm the diagnosis of Kabuki syndrome