A Complicated Medical Problem, Part 3: Summary and a Recommendation

In the previous two posts the reader detailed his complex medical history and his numerous doctor visits and tests to try to get his health problems solved.

To summarize, the reader is in his early twenties. His family hix is positive for a first degree relative with neurofibromatosis type 2 who also had (what sounds like) a subarachnoid hemorrage with residual one side neurologic signs.

As a child the reader had genetic and neurologic testing and did not (he says) have neurofibromatosis type 2.

As a child he was diagnosed with encephalopathy, motor dyspraxia, severe speech disorder, ADHD, and severe speech disorder. He is not aware of any etiologic or syndromic diagnosis.

However, he markedly improved around that time and did well in school until he was twenty.

And then in the fall of 2010 he reports that “September to December 2010. 

I began to have extreme fatigue which despite an adderall prescription(20 mg) I was still sleeping 10-15 hours a day , leg weakness on the left side which resulted in the dragging of my foot. Also general weakness and numbness throughout my body, tingling sensations and muscle twitches. Also moderate back pain which became worst and more noticeable after a long period of standing or walking.   In addition during that period I had what I would describe as nerve sensitivity and that was manifested in the constant need to take baths or showers and after that period I noticed intermittent burning in my legs.  Also during that time I had several episodes where I would could vaguely recall intense shaking at night.”

The reader has also had episodes of memory loss in the past. He has had appropriate workup for his problems including a recent neurology consult with electrodiagnostic tests, MRI/MRA (of the brain). The reader will be seeing his neurologist to review the tests soon.

He has had appropriate lab tests which have, he reports, have been unrevealing.

My only recommendation is that if the current round of diagnosis is unhelpful, that reader consult a medical geneticist.

The medical geneticist may be able to determine a genetic basis for his complex symptoms or he or she may be able to make a syndromic diagnosis (put a name on the group of symptoms he has even if they cannot yet make a specific genetic diagnosis). A syndromic diagnsosis can be helpful in letting a person know the likely course of his medical problems and also join appropaite patient support groups.


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