Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61
| Autor: | M.C. Spaeder, C.M. Peroutka, E.K. Ninmer, Daniel E. Levin |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
musculoskeletal diseases
Pediatrics medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities RD1-811 business.industry Hereditary spastic paraplegia Necrotizing Enterocolitis Totalis Spastic paraplegia Disease medicine.disease RJ1-570 nervous system diseases Pediatrics Perinatology and Child Health Necrotizing enterocolitis Spastic Medicine In patient Necrotizing enterocolitis totalis Surgery Presentation (obstetrics) ARL6IP1 business Paraplegia |
| Zdroj: | Journal of Pediatric Surgery Case Reports, Vol 75, Iss, Pp 102063-(2021) |
| ISSN: | 2213-5766 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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