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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.

STOP.THINK.DIAGNOSE…

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.

Key Notes:

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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12 responses to “Impaired lower limb mobility with no fever in an eight-year old male”

  1. Leonard NGARKA avatar

    I am not sure this is a Duchenes myopathy. Your history says the boy presents with weakness since a few days ago. DM is a chronic myopathy ie with symptoms evolving since several months.

    It will be good to precise the young boy’s symptoms well.
    The boy is feeling tired, give us more elements does he have difficulty climbing a staircase? When he bends down does he have difficulty standing?
    After the history, what does your physical exam reveal?
    Do we have bat wing features on his scapular region?
    How are the reflexes? what about the clad muscle hypertrophy? Ideomotor reflex present or not. Hypertrophy of the calf muscles? etc etc

    From your physical exams you can bring out the syndrome
    is it neurogenic or mypathy
    is it chronic or acute from here you go ahead to discuss the different etiologies depending on the other elements you have from the history.
    you will proceed to give us more information about CKmb, CPK results alongside other inflammatory markers and ENMG results. So there is a lot to do before ever concluding a Duchenes myopthy.
    This is just my widow’s mite contribution to the case

    1. Ayuketah Pearl avatar

      Thanks very much Dr for giving this thought. We definitely touched your specialty????. We would apply all this and come back for help here, that is if the family returns with the boy for a proper examination. The first consultation was done by someone else and the second was done in his absence, with an aunty who doesn’t live with him.

  2. Leonard NGARKA avatar

    If the points raised about the history and clinical evaluation it will help facilitate the discussion. Currently there are at least 10 differentials with the current presentation with Guillaine Barre one of them

    1. Ayuketah Pearl avatar

      Ok Doctor. Thanks for all the insight and your continuous assistance.
      From the Aunty’s report the child had resumed regular activities. We weren’t sure about many things and insisted they come back with the child the next day for a complete case history. We sure have broadened our perspective with these comments.

  3. Comfort Takang avatar

    It’s interesting that you thought of the possibility of such a rare genetic disorder like DMD in this setting. More information especially from the physical exam like hypotonia, atrophy etc will definitely be helpful to ascertain whether the weakness is generalized or specifically LE weakness. I think a more likely differential could be generalized weakness from his moderate microcytic anemia which could be secondary to Iron deficiency or even lead toxicity. DMD in my opinion is highly unlikely as it is typically identified by age 2-3 years and symptoms are pretty severe by 8 years. If anything, Beckers Muscular Dystrophy which is a milder form is more plausible. Family history would have been helpful as well. If DMD was suspected, checking creatinine kinase and/or liver enzymes would have been more helpful. I recommend a more detailed history to establish the cause of his anemia and also ruling out lead toxicity/iron deficiency which can more commonly lead to a similar presentation. More follow-up can be done after his anemia is corrected. Thanks for sharing the case.

    1. admin avatar

      Thanks very much for the insightful contributions Dr.

  4. TetuAl avatar

    Quite an interesting case. I am learning from the discussion so far. Duchennes Dystrophy is quite rare….though I really expected to read more about family history; any siblings? Any relative suffering from similar weakness??

    I can’t wait to read detailed observations after you get to examine the child personally.

  5. NFOR Leonard avatar

    Interesting case indeed. Sadly in our context such cases dont get to meet the appropriate providers for proper care in time.
    I agree with the previous comments
    A proper clinical evaluation and family history is needed

    A referral to a specialist of the domain would be required ASAP

  6. Vanessa Ayafor avatar

    Interesting thoughts here. I don’t think it is Duchenne muscular Dystrophy perhaps a more informative history and physical exam will help.
    Usually DMD being a frameshift or nonsense mutation, onset is usually before the age of 5years with not just weakness upon standing or use of hands to stand( growers sign) but there is a waddling gait that should make the family more concern if a serious condition than just think that he is lazy. All of these are very notable and it will be clear to the lay man that this way of standing or walking is not normal. PE should show pseudo hypertrophy of calf muscles. Genetic testing, CK and Aldolase testing can be done.
    MG doesn’t cross my mind as it is more of proximal muscle weakness. Someone with MG will complain of eye symptoms, dysphagia if serious respiratory difficulties. MG improves with rest as Ach can build up in the synaptic cleft, and so this boy will be more active when called from a sitter position and activity will reduce as he performs the command as Ach depletes.
    Given the age and time of onset I will think of other inflammatory myopathies, many people live with mild microscopic anemia in cameroon and are very fine so I wo t think of anemia.
    But clearly a thorough history and PE with muscular state, reflexes will help us narrow our thoughts.

    Great write up

  7. Nathan Yanwou avatar

    Looking at the past history and itchy patch along his legs I thought about acute rheumatic fever.

  8. admin avatar

    Thanks very much for all the contributions. We would be happy to receive rare, challenging or just educative cases from all.
    You can write to me or fill this form https://forms.gle/TMJgUjBEdvaKpq4k9
    Thanks once more.

  9. Fotang Irene avatar

    Interesting case here??
    In the history the mother reported a similar episode of weakness 2 years ago and we’re not told the symptoms got worse over the years. DMD would worsen overtime rather than remission and sporadic occurrence.

    Keep up the great work Drs

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Impaired lower limb mobility with no fever in an eight-year old male