Peter plus syndrome: A neurosurgeon's perspective

• Published in: Journal of pediatric neurosciences Vol. 14; no. 3; pp. 148 - 153
• Main Authors: Khatri, Deepak, Gosal, Jaskaran, Das, Kuntal, Bhaisora, Kamlesh
• Format: Journal Article
• Language: English
• Published: Mumbai Wolters Kluwer India Pvt. Ltd 01.07.2019; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt. Ltd; Wolters Kluwer - Medknow
• Subjects: Beliefs, opinions and attitudes; Care and treatment; Case Report; Case studies; Central nervous system; Chromosome abnormalities; Congenital diseases; Diagnosis; Genes; Genetic disorders; Hearing loss; Mutation; Neurosurgeons; NMR; Nuclear magnetic resonance; Patients; Practice; Prospective payment systems (Medical care); Proteins; Surgery; Tinnitus; India; Peter plus syndrome; neurosurgery; CSF diversion

Peter plus syndrome (PPS) is a rare, hereditary (autosomal recessive) disorder characterized by a mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13q12), which causes impaired glycosylation of several structural and functional proteins throughout the body. Clinical signs and sym...