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The Celle Seminars – Page 192

(M.P.): Yes, that helps the most. In the summer, in hot weather, I feel a burning pain. If I go into a cold lake or cold water the pain stops completely, only to return when I get too hot again.
(G.V.): Hot weather affects you? If it becomes warm, do the pains increase?
(M.P.): Yes. If I have a fever then I always feel pains.
(G.V.): How high a fever?
(M.P.): Half a degree is enough.

LIVE

(G.V.): Here is a nice boy who says he is twenty-one years old, but he looks younger. He has a rather severe problem: a severe congenital disease. I don’t know the pathology of the disease exactly – it is quite complicated – but I do know that the symptomatology he mentioned is due to a lack of some enzyme. The first thing he says is that he has pains when he exerts him-self. Where should you look? Try looking under Generalities: exertion, physical, page 1358 in Kent. You’ll see that you have capital letters and then italics. Now, how many times would you underline this symptom? (calls from the audience) Three to four times. Is this a characteristic symptom of his disease, that means his disease is aggravated by exertion. Such a symptom is a pathognomonic symptom, so we would not stress it too much.(A.l): What is his disease?
(G.V.): Well, where is his therapist? Can you give some details about his disease?
(Therapist): It is an alpha-galactosidaseA deficiency, an inborn sphingoglycolipid catabolism error. This enzymatic defect leads to the systematic deposition of the sphingoglycolipids. Prenatal diagnosis is possible. Low maintained dosages of Diphenylhy-dantoin or Carbamazepine may provide relief from the excruci-ating pain and constant discomfort. Exploratory trials of direct enzyme replacement indicate potential value of this approach.