Hypermethioninemia may be benign, present as a nonspecific sign of nongenetic conditions such as liver failure and prematurity, or a severe, progressive inborn error of metabolism. Genetic causes of hypermethioninemia include mitochondrial depletion syndromes caused by mutations in the MPV17 and DGUOK genes and deficiencies of cystathionine β-synthase, methionine adenosyltransferase types I and...

Nonketotic hyperglycinemia is an extremely rare autosomal recessively inherited glycine encephalopathy caused by a deficiency in the mitochondrial glycine cleavage system, which leads to severe clinical symptoms. Nonketotic hyperglycinemia is characterized by complex and diverse phenotypes, such as hypotonia, seizures, cognitive impairment, developmental delays and myoclonic jerks that may lead...

Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearance is an essential finding for the diagnosis of Joubert syndrome. We report a five-days-old newbo...

Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalit...

The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pat...

Case presentation: Female patient, second daughter of a healthy couple, was first bought for neuropediatrician evaluation with three days old already the diagnosis spinal muscular atrophy 5q (SMA) type 1. The firstborn this couple had same (deceased one month after her birthday) therefore they decided to test child while still in uterus. PCR (Polymerase Chain Reaction) SMA performed villochoria...

Corresponding author: Kwang Rae Cho, M.D., Department of Anesthesiology and Pain Medicine, Busan Paik Hospital, College of Medicine, Inje University, Gaegeum 2-dong, Busanjin-gu, Busan 614-735, Korea. Tel: 82-51-890-6520, Fax: 82-51-898-4216, E-mail: [email protected] This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// c...