Journal of Pediatric Surgery Case Reports (Dec 2021)

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

  • E.K. Ninmer,
  • M.C. Spaeder,
  • C.M. Peroutka,
  • D.E. Levin

Journal volume & issue
Vol. 75
p. 102063

Abstract

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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.

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