title: Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I: Is It Just a Coincidence?
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.
authors.affiliation: Department of Pediatrics, Hacettepe University, Ihsan Doğramaci Children's Hospital, Ankara, Turkey.
authors.forename: Erdal
authors.initials: E
authors.lastname: Sag
authors.affiliation: Division of Pediatric Oncology, Hacettepe University, Ihsan Doğramaci Children's Hospital, Ankara, Turkey.
authors.forename: Hilal Susam
authors.initials: HS
authors.lastname: Sen
authors.affiliation: Division of Pediatric Neurology, Hacettepe University, Ihsan Doğramaci Children's Hospital, Ankara, Turkey gtuncer@hacettepe.edu.tr.
authors.forename: Goknur
authors.initials: G
authors.lastname: Haliloglu
authors.affiliation: Division of Pediatric Oncology, Hacettepe University, Ihsan Doğramaci Children's Hospital, Ankara, Turkey.
authors.forename: Bilgehan
authors.initials: B
authors.lastname: Yalcin
authors.affiliation: Division of Pediatric Oncology, Hacettepe University, Ihsan Doğramaci Children's Hospital, Ankara, Turkey.
authors.forename: Tezer
authors.initials: T
authors.lastname: Kutluk
mesh_terms: D001932:Brain Neoplasms / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D009447:Neuroblastoma / Q000150:complications*; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000235:genetics; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics
chemical_list: C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein
keywords: abdominal mass; muscle weakness; neuroblastoma; spinal muscular atrophy type I