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Infantile facioscapulohumeral muscular dystrophy with Coat's syndrome
1Department of Neurosciences, JLN Hospital and Research Centre, Bhilai - 490 006, Madhya Pradesh, India.
Insights
This case study presents an unusual presentation of facioscapulohumeral dystrophy (FSH) with early infantile onset and unique progressive features. The case highlights atypical calf hypertrophy, skeletal, and retinal changes, offering new insights into FSH disease progression.
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.
Abstract:
A case of facioscapulohumeral dystrophy (FSH) with several unusual feature is being presented. It's early onset in infancy as against commonly occurring onset in second decade, the relentless progressive course without abortive or apparent arrest phase as is often seen, the calf hypertrophy, marked skeletal changes and associated retinal changes seen in Coat's disease are the noteworthy features of this unusual case.