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Further delineation of PIGB-related early infantile epileptic encephalopathy.
Schiavoni, Silvia; Spagnoli, Carlotta; Rizzi, Susanna; Salerno, Grazia Gabriella; Frattini, Daniele; Bergonzini, Patrizia; Pisani, Francesco; Fusco, Carlo.
  • Schiavoni S; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy. Electronic address: silviaschiavoni04@gmail.com.
  • Spagnoli C; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Rizzi S; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Salerno GG; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Frattini D; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Bergonzini P; Pediatric Neurology Unit, Department of Mother & Child, University Hospital of Modena, Italy.
  • Pisani F; Child Neuropsychiatry Unit, Neuroscience Division, Medicine & Surgery Department, University of Parma, Parma, Italy.
  • Fusco C; Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy; Department of Pediatrics, Pediatric Neurophysiology Laboratory, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Eur J Med Genet ; 64(10): 104268, 2021 Oct.
Article in English | MEDLINE | ID: covidwho-1401450
ABSTRACT
Pathogenic variants in phosphatidylinositol glycan anchor biosynthesis class B (PIGB) gene have been first described as the cause of early infantile epileptic encephalopathy 80 (EIEE-80) in 2019. This disorder, an inherited glycosylphosphatidylinositol deficiency, is associated with a complex neurologic phenotype, including developmental delay, early-onset epilepsy and peripheral neuropathy. We report on a 5 year-old girl born from consanguineous parents, manifesting severe global developmental delay with absent speech, mixed peripheral polyneuropathy, hypotonia, bilateral equino-varo-supinated-cavus foot, early-onset scoliosis, elevated serum alkaline phosphatase and a single episode of febrile status epilepticus. Hypomyelination was documented on brain MRI. Whole-exome sequencing (WES) disclosed the likely pathogenic biallelic PIGB NM_004855.4 c.463G > C, p.(Asp155His) missense variant. In our patient, while other characteristic clinical, neuroimaging and laboratory findings (as described in the first research paper) were present, seizures were not a major clinical issue, thus contributing to our knowledge on this ultra-rare disorder.
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Full text: Available Collection: International databases Database: MEDLINE Main subject: Brain / Developmental Disabilities / Peripheral Nervous System Diseases / Epilepsy / Mannosyltransferases Type of study: Case report / Diagnostic study / Prognostic study Topics: Variants Limits: Child / Female / Humans Language: English Journal: Eur J Med Genet Journal subject: Genetics, Medical Year: 2021 Document Type: Article

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Full text: Available Collection: International databases Database: MEDLINE Main subject: Brain / Developmental Disabilities / Peripheral Nervous System Diseases / Epilepsy / Mannosyltransferases Type of study: Case report / Diagnostic study / Prognostic study Topics: Variants Limits: Child / Female / Humans Language: English Journal: Eur J Med Genet Journal subject: Genetics, Medical Year: 2021 Document Type: Article