Clinical and Genetic Functional Validation of a Novel Mutation Causing MEDNIK Syndrome.

MEDNIK syndrome is a rare copper metabolism disorder caused by variants. Herein, we report the clinical and genetic characteristics of MEDNIK syndrome in two siblings. The clinical treatment process for MEDNIK syndrome and over 4 years of follow-up data were analysed in two siblings.

Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature.

Background: Developmental and epileptic encephalopathy-50 (DEE-50) is a rare clinical condition believed to be caused by a mutation in the CAD gene and is associated with a bleak prognosis. CAD-related diseases have a wide range of clinical manifestations and other symptoms that may be easily overlooked. Like other rare diseases, the clinical manifestations and the treatment of DEE-50 necessitate further investigation.

Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.

Background: Kawasaki disease (KD) is an acute pediatric vasculitis affecting genetically susceptible infants and children. Although the pathogenesis of KD remains unclear, growing evidence links genetic susceptibility to the disease.

Methods: To explore the genes associated with susceptibility in KD, we applied whole-exome sequencing to KD and control subjects from Yunnan province, China.

Novel compound heterozygous mutations in the gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy.

Background: The most common disease caused by biallelic mutations is spastic ataxia type 5 (SPAX5). Identification of complex phenotypes resulting from biallelic mutations has been increasing in recent years.

Methods: A retrospective analysis was performed on a child with microcephaly and recurrent seizures.

Spinal canal decompression for hypertrophic neuropathy of the cauda equina with chronic inflammatory demyelinating polyradiculoneuropathy: A case report.

Background: Hypertrophic neuropathy of the cauda equina (HNCE) is a rare disease, especially in children. It can be caused by different etiological agents such as inflammation, tumor or hereditary factors. Currently, there is no uniform standard for clinical treatment of HNCE.

A novel mutation with neurodevelopmental disorder caused by malformations of cortical development.

Neurodevelopmental disorder caused by malformations of cortical development is a rare neurological disease. Heterozygous missense variants in the gene lead to malformations of human cortical development, which further result in intellectual disability, developmental retardation, and epilepsy. To the best of our knowledge, only thirteen patients and a total of nine pathogenic variants have been described in the published literature.