Infantile facioscapulohumeral muscular dystrophy with Coat's syndrome

Area of Science:

• Neurology
• Genetics
• Ophthalmology

Background:

• Facioscapulohumeral dystrophy (FSH) is a genetic myopathy typically presenting in adolescence or early adulthood.
• The disease course is variable, often characterized by periods of stability or slow progression.

Purpose of the Study:

• To present a rare case of facioscapulohumeral dystrophy (FSH) with atypical clinical manifestations.
• To highlight unusual features including early-onset, relentless progression, and associated systemic findings.

Main Methods:

• Case report detailing clinical history, physical examination, and diagnostic findings.
• Review of relevant literature on facioscapulohumeral dystrophy and its variants.

Main Results:

• The patient exhibited infantile onset of FSH, deviating from the typical second-decade onset.
• Progressive muscular weakness without apparent arrest, calf hypertrophy, significant skeletal abnormalities, and Coat's disease-like retinal changes were observed.
• These features represent a highly unusual constellation for FSH.

Conclusions:

• This case underscores the phenotypic variability of facioscapulohumeral dystrophy (FSH).
• Early-onset FSH with relentless progression and associated systemic findings, including retinal changes, requires careful diagnostic consideration and management strategies.