Siblings with Infantile Neuroaxonal Dystrophy
A 2 years 3 months male toddler with motor delay and his female sibling with history of marked global developmental regression following an intercurrent febrile illness were both noted to have phospholipase A2G6 (PLA2G6) mutation, confirming the diagnosis of infantile neuroaxonal dystrophy (INAD). This case report attempts to familiarize readers with the pleomorphic presentation of INAD and the role of early clinical identification, examination, and prompt genetic testing in establishing a diagnosis.
Initial presentation of the children, preliminary clinical work-up, and basic investigations were performed at Military Hospital, Ahmedabad, Gujarat.
Neuroimaging and genetic testing were performed from Army Hospital (R&R), Delhi.
P.A. dedicated in case management, draft manuscript preparation, literature review, and approval of final manuscript. J.N.G. supported in clinician-in-charge, literature review, and approval of final manuscript.
Received: 02 April 2020
Accepted: 31 May 2020
20 August 2020 (online)
© 2020. Thieme. All rights reserved.
Georg Thieme Verlag KG
Stuttgart · New York
- 1 Gregory A, Kurian MA, Maher ER, Hogarth P, Hayflick SJ. PLA2G6-associated neurodegeneration. In GeneReviews® 2017. University of Washington; Seattle: . Available at: http://www.ncbi.nlm.nih.gov/books/NBK1675 (PMID: . Accessed February 15, 2020)
- 2 Paisan-Ruiz C, Bhatia KP, Li A. , et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009; 65 (01) 19-23
- 3 Kurian MA, McNeill A, Lin JP, Maher ER. Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol 2011; 53 (05) 394-404
- 4 Elsayed LEO, Mohammed IN, Hamed AAA. , et al. Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. BMC Med Genet 2018; 19 (01) 72-76
- 5 Aicardi J, Castelein P. Infantile neuroaxonal dystrophy. Brain 1979; 102 (04) 727-748
- 6 Nardocci N, Zorzi G, Farina L. , et al. Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. Neurology 1999; 52 (07) 1472-1478
- 7 Engel LA, Jing Z, O'Brien DE, Sun M, Kotzbauer PT. Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One 2010; 5 (09) e12897
- 8 Gebril O, Uebe S, Reuter M, Schumacher J, Jamra RA, Reis A. A new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD. Egypt Pediatr Assoc Gaz 2016; 64 (04) 171-176
- 9 Megahed H, Nicouleau M, Barcia G. , et al. Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population. Orphanet J Rare Dis 2016; 11 (01) 57