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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Bibliografische gegevens
Hoofdauteurs: E.K. Ninmer (Auteur), M.C. Spaeder (Auteur), C.M. Peroutka (Auteur), D.E. Levin (Auteur)
Formaat: Boek
Gepubliceerd in: Elsevier, 2021-12-01T00:00:00Z.
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Samenvatting: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.
Beschrijving item:2213-5766
10.1016/j.epsc.2021.102063