Help with diagnosis

[Andrew Malison]

  Below is a note that a friend, Lou Giacchino, has asked me to post with
  the hope of coming closer to diagnosing a disease afflicting his son. 
  Lou and his family have unsuccessfully sought for the past four years
  such a diagnosis through conventional channels including NIH.  If you
  have encountered a similar case or otherwise have any clues or
  suggestion for Lou or me to pursue, please call him directly in
  Maryland, United States by phone at (301) 434-9073 or by fax at (301)
  434 0787.  I will also be passing messages to him sent to me on this
  matter via e-mail at amalison at cap.gwu.edu. 
  
  INTERNET NOTICE - URGENT HELP NEEDED WITH MEDICAL
  DIAGNOSIS
  
  My son, Jon, age 37, lies in a nursing home in Silver Spring, Maryland,
  immobilized by a disease which we have not been able to diagnose.  He
  has lost all control of motor functions, including speech, cannot feed
  himself,  and is incontinent.  Help is needed to give some orientation to
  research leading to a proper diagnosis of his affliction.
  
  The facts of the case, summarized on the occasion of a recent brain
  biopsy at the Johns Hopkins Hospital in Baltimore,  are as follows:
  
  Jon is a 37-year old male whose symptons began approximately four
  years ago.  Before that he had been healthy and athletic, achieving a
  high school education and serving six years in the U. S. Navy.  His
  symptons began with some vague tightness in both lower extremities,
  progressing to a spastic gait.  The family
  noticed some subtle but progressive deterioration in this attention,
  concentration,
  and speech content.  Workup evaluation began at NIH in August 1992,
  at which 
  time his spastic gait was documented and his condition categorized as
  Multiple Sclerosis.  Several studies including serologic studies, HIV,
  HTLV, RPR, B12, Lyme titers, and MRI scans were negative.  Cortical
  function testing in 1993 showed grossly abnormal effects with
  borderline mental retardation in all parameters.  Lumbar puncture in
  late 1994 was unremarkable and significant for negative VDRL and
  negative IgG index.  Evaluation for metabolic disease as a child was
  also negative.  Repeat MRI scan in February 1995 did reveal abnormal
  signal intensity in the subcortical white matter areas in the
  frontotemporal area.  At that time evoke potential results were also
  abnormal.
  
  A brain biopsy specimen was taken on 5/31/95.  The pathologist
  reported the cores of tissue as slightly hypercellular, but noted that
  changes were minimal and did not
  permit a diagnosis of glioma.  No cycling cells were seen with the
  staining for 
  Ki-67/MIB - 1.
  
  As a result of this biopsy, the neurologist in charge stated that there was
  no basis on which to classify Jon's condition as multiple sclerosis, a
  tumor, or "any other
  neurologic condition."  He went on to state that since Jon's condition
  remains 
  undiagnosed, he could not recommend any treatment  The final blow in
  this report
  lies in the last sentence:  "I think that you have exhausted the avenues
  for finding out what has caused his neurological decline and am sorry
  that we have not been
  able to offer more help."  
  
  Needless to say, we are not comfortable with this assertion.   We want
  to continue to try and get the root of Jon's problem and, if possible, do
  something about it.
  My name is Louis Giacchino.  I can be reached at home at 301-434-9073.
  
  End of message.
   
  Andrew F. Malison
  amalison at cap.gwu.edu