October 02, 2004

The Importance of a Neuro Exam

I just learned about the following from a case-study presentation by a senior neurologist and 4th year medical students. I thought it might be of importance and/or interest.

A certain disorder (we'll call it Disease X) is characterized by, among other things, the following clinical symptoms:

--gait disturbance, hypotonia (i.e. 'floppy baby syndrome'), intellectual decline with onset in infancy

--poor school performance, confusion, behavioral changes, emotional lability, tremors/clumsiness, bradykinesia (slow moving), possible dementia in childhood-onset

--behavioral and affective changes, decreased work/school performance, psychoses, possible seizures, loss of motor coordination in late adolescence/adulthood

Going by just clinical presentation alone, it looks like there is a fair bit of overlap with schizophrenia (not to mention a few other psychiatric disorders). However, the symptoms above actually describe a rare neurological disease called metachromatic leukodystrophy, caused by the lack of an essential enzyme in the body.

It can be diagnosed via findings from various physical tests such as CT scan, MRI, laboratory/urine tests; the most telling test for diagnosing metachromatic leukodystrophy is a nerve conduction study. However, given that this disorder is very rare, it would take an extremely perceptive psychiatrist to overlook the tempting diagnoses of schizophrenia or other disorders, and recommend further neurologic testing.

My point is not to invalidate schizophrenia diagnoses given by psychiatrists, but to highlight the importance of thoroughly exploring all possibilities in the early stages of diagnosis. When a person comes to the doctor describing some of the hallmark symptoms of schizophrenia (i.e. behavioral changes, difficulty concentrating, racing thoughts, hallucinations, etc), a good doctor should rule out a number of other causes with laboratory work, neurologic exams, and brain imaging studies, as well as making a referral to a psychiatrist.

Getting a correct diagnosis early in the course of a disease is a key step in long-term improvement and recovery.

Read an example of what normal tests are ordered when someone comes in to the doctor for the first time with schizophrenia-like symptoms


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