Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I: Is It Just a Coincidence?. (July 2015)

• Record Type: Journal Article
• Authors: Sag, Erdal; Sen, Hilal Susam; Haliloglu, Goknur; Yalcin, Bilgehan; Kutluk, Tezer
• Is Part Of: Journal of child neurology. Volume 30:Number 8(2015:Jul.)
• Page Start: 1075
• Page End: 1078
• Publication Date: 2015-07
• Subjects: neuroblastoma -- spinal muscular atrophy type I -- abdominal mass -- muscle weakness; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073814542950
• Languages: English
• ISSNs: 0883-0738

Abstract

Spinal muscular atrophy is an autosomal recessive disorder characterized by progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy, and weakness. Herein, we report a 4-month-old male infant who presented to our hospital with an abdominal mass that was diagnosed as neuroblastoma and spinal muscular atrophy type I. We would like to discuss the course and differential diagnosis with an algorithm leading to the diagnosis in this peculiar patient. To our knowledge, coexistence of spinal muscular atrophy type I and neuroblastoma is defined for the first time in the literature.