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Congenital fibre type disproportion. A case report

South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde

|November 21, 1981

Summary

This case study details a 14-year-old girl with congenital myopathy, specifically fibre type disproportion. Diagnosis was confirmed via muscle biopsy after delayed development and floppy infant presentation.

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Area of Science:

Neurology
Pediatrics
Muscle Pathology

Background:

Congenital myopathies are a group of inherited muscle diseases presenting at birth or early infancy.
Fibre type disproportion (FTD) is a histological pattern characterized by an unequal distribution of slow-twitch (Type I) and fast-twitch (Type II) muscle fibers.
This pattern can be associated with various congenital myopathies, including nemaline myopathy and central core disease.

Observation:

A 14-year-old White female presented with a history of being a 'floppy baby' with significantly delayed developmental milestones.
Clinical suspicion for congenital muscle dystrophy was raised due to the patient's persistent hypotonia and motor deficits.
Diagnostic workup included a quadriceps muscle biopsy for detailed histological examination.

Findings:

Muscle biopsy revealed the characteristic histological features of congenital fibre type disproportion.
This finding confirmed the diagnosis of congenital myopathy with fibre type disproportion.
The patient's clinical presentation correlated with the pathological findings.

Implications:

This case highlights the importance of muscle biopsy in diagnosing congenital myopathies, even in older children presenting with long-standing symptoms.
Understanding fibre type disproportion is crucial for accurate diagnosis and potential genetic counseling in affected families.
Further research into the specific genetic underpinnings and long-term management strategies for congenital myopathy with FTD is warranted.

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