The case of today is one of a patient discussed in the consultation room in his absence.
A young woman comes to the consultation unit with her nephew’s test results. The nephew, an 8-year old, was at school at the time of consultation. He had been consulted few days before by another doctor, presenting with difficulties to walk and lower limbs’ pains evolving over a few days. A hemoglobinopathy of late onset was suspected, and FBC and Hb electrophoresis requested. The results were being presented this day, in his absence.
On interrogation with the aunty, and mum on phone, the boy is said to be a lazy, weak boy who tends to be very reluctant when called. His Mum reported a similar episode of weakness which they attributed to feet pains about two years ago. The boy usually gets up from his seat very reluctantly when called, but otherwise walks normally except when he experiences this intense weakness and pains. He is said to have worked a little more than the usual before this last episode of pain.
A picture of his lower limbs (anterior view) was available and sent. There were some papules about 1mm in diameter sparsed on legs, and a notion of pruritus according to mum. The limbs looked very slim and the boy is said to be generally slim.
The Hb electrophoresis that was presented was AA and there was a moderate microcytic anemia.
My diagnosis was Duchenne’s muscular dystrophy. The differential, Myasthenia Gravis. It could also be other muscular dystrophy. Duchenne’s came first given the description of his reluctance when standing, age, and sex being male. The sparse small papular lesions could be scabies (also suggested by previous doctor) but would need to be reviewed physically.
The mother and aunty were strongly urged to bring the boy for consultation the following day.
Presented by Dr.P.O
Unfortunately, we do not have further information at the moment. You are encouraged to please suggest in the comment section what you think he had or what other pathologies could be investigated. Key work-ups and management for these diagnoses are also worth discussing.
1)Presentation of test results should ALWAYS be done in the presence of the patient.
2)Interpretation of results by a doctor new to the case warrants a complete review of history, if not clear in the medical record.
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