Facioscapulohumeral muscular dystrophy (landouzy-dejerine type) in a Nigerian female: a case report.
BACKGROUND
Muscular dystrophy is not an uncommon entity in Nigerian medical clinics. The facioscapulohumeral type represents a rare variety of the disorder with its own distinctive characteristics but is not expected to have significant cardiac manifestations.


METHODS
The case report of a 17-year-old Nigerian female with facioscapulohumeral muscular dystrophy and significant cardiac dysfunction is presented and the relevant literature is reviewed.


RESULTS
A 17-year-old Nigerian female presented with 18 month history of shortness of breath on mild to moderate exertion, generalized weakness, weight loss and abnormal gait. Leg swelling developed a few weeks prior to presentation. Intrauterine life and early childhood were uneventful while her family history was unremarkable. She had typical features of facioscapulohumeral muscular dystrophy but in addition demonstrated evidence of significant cardiac impairment, which is uncommon and not typically expected in this disorder.


CONCLUSIONS
It is important for clinicians to comprehensively evaluate every patient presenting with a hitherto "clear "diagnosis in order to unmask unexpected associated clinical details.
Anisiuba
B C
BC
Department of Medicine, University of Nigeria Teaching Hospital, Enugu, Nigeria. banisiuba@yahoo.co.uk
Onwuekwe
I
I
Ejim
E C
EC
D000293:Adolescent; D053938:DNA Fragmentation; D003937:Diagnosis, Differential; D005111:Extrachromosomal Inheritance; D005260:Female; D034381:Hearing Loss / Q000209:etiology; D006801:Humans; D007859:Learning Disabilities / Q000209:etiology; D018482:Muscle, Skeletal / Q000002:abnormalities; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000503:physiopathology; D009549:Nigeria