The boy who lost his smile: facioscapulohumeral dystrophy in the head and neck

Jonathan C Kopelovich; Scott Owen; Katherine D Mathews; Douglas K Henstrom

doi:10.1177/0003489414543071

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The boy who lost his smile: facioscapulohumeral dystrophy in the head and neck

Journal article

Peer reviewed

The boy who lost his smile: facioscapulohumeral dystrophy in the head and neck

Jonathan C Kopelovich, Scott Owen, Katherine D Mathews and Douglas K Henstrom

Annals of otology, rhinology & laryngology, Vol.124(2), pp.148-152

02/2015

DOI: 10.1177/0003489414543071

PMID: 25059448

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Abstract

Facioscapulohumeral dystrophy is the third most common muscular dystrophy and the one most likely to present primarily in the head and neck. In this report, we present a case of a young child with subtle progressive bilateral facial weakness whose workup ultimately led to this diagnosis. Paralysis in this disorder is secondary to worsening muscle atrophy, which typically progresses in a cephalad to caudad direction. Despite facial paralysis being a key and early component of this illness, no prior descriptions in the otolaryngology literature exist. The case described is unusual in that the patient initially presented to a community otolaryngologist. In addition to workup, the disease characteristics, head and neck manifestations, and prognosis are discussed.

Muscular Dystrophy, Facioscapulohumeral - physiopathology

Diagnosis, Differential

Prognosis

Muscular Dystrophy, Facioscapulohumeral - diagnosis

Humans

Magnetic Resonance Imaging - methods

Muscular Dystrophy, Facioscapulohumeral - therapy

Tomography, X-Ray Computed - methods

Male

Treatment Outcome

Head - pathology

Facial Paralysis - diagnosis

Facial Paralysis - physiopathology

Neck - pathology

Disease Management

Retinoscopy - methods

Child

Facial Paralysis - etiology

Details

Title: Subtitle: The boy who lost his smile: facioscapulohumeral dystrophy in the head and neck
Creators: Jonathan C Kopelovich - Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
Scott Owen - Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
Katherine D Mathews - Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
Douglas K Henstrom - Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA Division of Plastic Surgery and Cosmetic Services, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA douglas-henstrom@uiowa.edu
Resource Type: Journal article
Publication Details: Annals of otology, rhinology & laryngology, Vol.124(2), pp.148-152
DOI: 10.1177/0003489414543071
PMID: 25059448
NLM abbreviation: Ann Otol Rhinol Laryngol
ISSN: 0003-4894
eISSN: 1943-572X
Publisher: United States
Language: English
Date published: 02/2015
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics); Otolaryngology
Record Identifier: 9984006366802771

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