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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: E.K. Ninmer (Author), M.C. Spaeder (Author), C.M. Peroutka (Author), D.E. Levin (Author)
פורמט: ספר
יצא לאור: Elsevier, 2021-12-01T00:00:00Z.
נושאים:
גישה מקוונת:Connect to this object online.
תגים: הוספת תג
אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!
תיאור
סיכום: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.
תאור פריט:2213-5766
10.1016/j.epsc.2021.102063