Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61

Spastic paraplegia 61 is a rare, complicated form of hereditary spastic paraplegia characterized by diffuse sensory and motor polyneuropathy. Knowledge about the clinical manifestations of disease in patients with this genetic condition is limited. We describe a case of a 4-month-old infant with spa...

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Autores principales:	E.K. Ninmer, M.C. Spaeder, C.M. Peroutka, D.E. Levin
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Necrotizing enterocolitis totalis Spastic paraplegia ARL6IP1 Pediatrics RJ1-570 Surgery RD1-811
Acceso en línea:	https://doaj.org/article/cf8865f15bfd4d739bbd361c67fc51d5
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spelling	oai:doaj.org-article:cf8865f15bfd4d739bbd361c67fc51d52021-11-24T04:29:23ZNecrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 612213-576610.1016/j.epsc.2021.102063https://doaj.org/article/cf8865f15bfd4d739bbd361c67fc51d52021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2213576621002840https://doaj.org/toc/2213-5766Spastic paraplegia 61 is a rare, complicated form of hereditary spastic paraplegia characterized by diffuse sensory and motor polyneuropathy. Knowledge about the clinical manifestations of disease in patients with this genetic condition is limited. We describe a case of a 4-month-old infant with spastic paraplegia 61 (SPG61) who developed severe bowel inflammation consistent with necrotizing enterocolitis totalis. To our knowledge, this is the first reported case of necrotizing enterocolitis in a patient with this genetic condition.E.K. NinmerM.C. SpaederC.M. PeroutkaD.E. LevinElsevierarticleNecrotizing enterocolitis totalisSpastic paraplegiaARL6IP1PediatricsRJ1-570SurgeryRD1-811ENJournal of Pediatric Surgery Case Reports, Vol 75, Iss , Pp 102063- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Necrotizing enterocolitis totalis Spastic paraplegia ARL6IP1 Pediatrics RJ1-570 Surgery RD1-811
spellingShingle	Necrotizing enterocolitis totalis Spastic paraplegia ARL6IP1 Pediatrics RJ1-570 Surgery RD1-811 E.K. Ninmer M.C. Spaeder C.M. Peroutka D.E. Levin Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61
description	Spastic paraplegia 61 is a rare, complicated form of hereditary spastic paraplegia characterized by diffuse sensory and motor polyneuropathy. Knowledge about the clinical manifestations of disease in patients with this genetic condition is limited. We describe a case of a 4-month-old infant with spastic paraplegia 61 (SPG61) who developed severe bowel inflammation consistent with necrotizing enterocolitis totalis. To our knowledge, this is the first reported case of necrotizing enterocolitis in a patient with this genetic condition.
format	article
author	E.K. Ninmer M.C. Spaeder C.M. Peroutka D.E. Levin
author_facet	E.K. Ninmer M.C. Spaeder C.M. Peroutka D.E. Levin
author_sort	E.K. Ninmer
title	Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61
title_short	Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61
title_full	Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61
title_fullStr	Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61
title_full_unstemmed	Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61
title_sort	necrotizing enterocolitis totalis complicates an infantile presentation of arl6ip1-related spastic paraplegia 61
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/cf8865f15bfd4d739bbd361c67fc51d5
work_keys_str_mv	AT ekninmer necrotizingenterocolitistotaliscomplicatesaninfantilepresentationofarl6ip1relatedspasticparaplegia61 AT mcspaeder necrotizingenterocolitistotaliscomplicatesaninfantilepresentationofarl6ip1relatedspasticparaplegia61 AT cmperoutka necrotizingenterocolitistotaliscomplicatesaninfantilepresentationofarl6ip1relatedspasticparaplegia61 AT delevin necrotizingenterocolitistotaliscomplicatesaninfantilepresentationofarl6ip1relatedspasticparaplegia61
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Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61

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