Orbital rhabdomyosarcoma in a child with Leigh syndrome

Ang Li; Alexander Blandford; Rao V Chundury; Elias I Traboulsi; Peter Anderson; Erin Murphy; Sumit Parikh; Julian Perry

doi:10.1016/j.jaapos.2017.09.006

Orbital rhabdomyosarcoma in a child with Leigh syndrome

J AAPOS. 2018 Apr;22(2):150-152.e1. doi: 10.1016/j.jaapos.2017.09.006. Epub 2017 Dec 20.

Authors

Ang Li¹, Alexander Blandford², Rao V Chundury², Elias I Traboulsi², Peter Anderson³, Erin Murphy⁴, Sumit Parikh⁵, Julian Perry²

Affiliations

¹ Department of Ophthalmology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio. Electronic address: [email protected].
² Department of Ophthalmology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.
³ Pediatric Hematology Oncology and Blood and Marrow Transplantation, Cleveland Clinic, Cleveland, Ohio.
⁴ Radiation Oncology, Cleveland Clinic, Cleveland, Ohio.
⁵ Center for Pediatric Neurosciences, Cleveland Clinic, Cleveland, Ohio.

PMID: 29274371
DOI: 10.1016/j.jaapos.2017.09.006

Abstract

We present the case of a 6-year old girl with Leigh syndrome and an orbital rhabdomyosarcoma and describe her clinical course and our multidisciplinary approach to treatment. To our knowledge, this is the first report of rhabdomyosarcoma in a patient with Leigh syndrome.

Publication types

Case Reports

MeSH terms

Antineoplastic Combined Chemotherapy Protocols / therapeutic use
Child
Combined Modality Therapy
Female
Humans
Leigh Disease / complications*
Leigh Disease / diagnostic imaging
Leigh Disease / genetics
Magnetic Resonance Imaging
Mutation
NADH Dehydrogenase / genetics
Ophthalmologic Surgical Procedures
Ophthalmoscopy
Orbital Neoplasms / complications*
Orbital Neoplasms / pathology
Orbital Neoplasms / therapy
Rhabdomyosarcoma / complications*
Rhabdomyosarcoma / pathology
Rhabdomyosarcoma / therapy

Substances

NDUFS1 protein, human
NADH Dehydrogenase