Books

The Celle Seminars_Page 191

Celle Seminar I, Case 7: Fabry-Anderson Syndrome

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 very 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 himself. Were 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. This is obviously something that you perceive as being 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-galactosidase A 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 Diphenyl-hydantoin or Carbamazepin may provide relief from the excruciating pain and constant discomfort. Exploratory trials of direct enzyme replacement indicate potential value of this approach. This disorder is transmitted by x-linked genes.
The clinical symptoms are the following: pains, skin lesions, cardiac-cerebral-renal manifestations which include myocardial ischemia and infarction, heart failure, cardial enlargement. From the kidneys: proteinuria and other signs of renal impairment with gradual deterioration of renal function. Development of acetonemia in middle-age. Ocular features: lesions and lenticular changes have been described; conjunctiva and retinal vascular relations are common and represent part of the diffuse system involvement of vessels. Other clinical features: lymphedema of the

191