When an internist in another hospital saw Case 4 – deficiency of descendants and cobalamin – a memory was stirred. He consulted his nurses, and the chart of a closed case reappeared.
The patient was a male born 1952. In 1963, he developed Darier´s disease (keratosis follicularis), a skin disease with autosomal dominant heredity and impaired fertility, according to the text-books. He spent a main part of his teens in hospital due to skin infections. Later, he played middle-league soccer and made a social career from odd-job man to middle-level administrator. He married 1974, no contraception from then. The couple got a son 1986.
There was a heredity for premature cardiac death, as mirrored by both paternal and maternal roots of his pedigree. Furthermore, he smoked 20 cigarettes a day, had "moderate" alcohol habits, was in periods treated with the retinate Tigason, an A vitamin analogue, and antibiotics for skin infections. His dermatologist became troubled by moderate lipid and transaminase abnormalities in the laboratory state of the patient and sent him to the internist.
The internist saw a middle-sized 40-year-old athlete with extensive skin changes, comfort weight, and workaholism. They discussed a re-organization of life style. The methionine load of the patient was slightly pathological; the patient was treated with oral high-dose cyanocobalamin, 1 mg daily, and oral high-dose folic acid, 5 mg daily. His wife conceived immediately, and the family expanded with a daughter in due time.
The happening produced an improvement of life style.
A year later the patient visited the emergency clinic of the department for obscure chest pain and was sent home with reassuring information in spite of negative T waves. A couple of days later, he was admitted dead. Autopsy findings suggested that the fatality as caused by a myocardial infarct.
The internist is now looking through the original report of Gräsbeck and Salonen on the relationship between B vitamins and aspermia, documented by testis biopsies. He is pondering about the difference between life and death.
Literature
Gräsbeck R, Salonen E-M. Vitamin B12 – changes in other tissues, infertility. Prog Fd Nutr Sci 1976; 2:219-21.
Updated november 06, 2003