Case 1 A 34-year-old woman with a number of vague somatic complaints and depression was admitted to hospital after being referred to the psychiatric department by a physician. She had a history of intermittent disabling abdominal complaints, and an appendectomy scar was present. During a ward round she bemoaned her fate and claimed that she was unable to walk, while being propped up on both sides by nurses. One of us (M.S.), who has reported a series of four patients with Addison's disease and depression,4 checked her blood pressure, especially as she had a moderate degree of hyponatremia. It was 90/55 mm Hg while she was standing. Therefore, this patient was the fifth with Addison's disease associated with depression. A 24-hour urine collection was ordered to assess the excretion of 17-ketosteroids. The following day the urine specimen was an unusual colour and acute intermittent porphyria was subsequently confirmed. Case 2 A 27-year-old woman presented with depression. She had had a therapeutic abortion at 6 weeks' gestation because of persistent abdominal pain and vomiting. However, she claimed that her depression was not connected with the abortion. Three years previously an episode of abdominal pain had been investigated in hospital, but no cause was found. In view of the patient's present distress and general agitation, barbiturates were prescribed; however, they had no beneficial effect. The patient was mildly hypertensive and was therefore given a small dose of a rauwolfia agent for 3 days, after which her blood pressure settled. She then complained of fainting spells during which she had fallen and bruised her legs, a lack of energy and the need for support while walking. She was referred for psychiatric consultation. The patient was pale (hemoglobin concentration 14 g/dl) and her pulse rate was 96 beats/mm. Her blood pressure was recorded daily and was constant at 120/80 mm Hg. The clinical picture was so similar to that of the previous pa-
tient that the blood pressure was checked while the patient was standing: it was found to be 80/40 mm Hg. Intermittent porphyria was again suspected; the following day a urine specimen was strongly positive for porphobilinogen. Comment Acute intermittent porphyria has a variety of clinical features; each in itself is not diagnostic, but taken together they are presumptive evidence of the condition. Postural hypotension is easily determined and should now be considered a feature of the disease. In the first case it led to the diagnosis accidentally, and in the second case it was a useful factor in the clinical diagnosis. It should therefore be sought whenever acute intermittent porphyria is suspected; if present it makes further investigations mandatory. MYRE SIM, MD (EDIN), FRCP, FRC PSYCH, FRCP[C], DPM
Professor of psychiatry Faculty of health sciences University of Ottawa Royal Ottawa Hospital RAYMOND HUDON, MD
Grace Hospital Ottawa, Ont.
References 1. WHITTAKER
SRF,
WHITEHEAD
TP:
Acute and latent porphyria. Lancet 1: 547, 1956 2. ACKNER B, COOPER JE, GRAY CH,
et al: Excretion of porphobilinogen and 'y-aminolaevulinic acid in acute porphyria. Lancet 1: 1256, 1961 3. SCHMID R: Porphyria, in Textbook of Medicine, 13th ed, BEESON PB, MCDERMOTT W (eds), Saunders, Philadelphia, 1971, p 1704 4. Si. M: Guide to Psychiatry, rev 3rd ed, Churchill-Livingstone, Edinburgh, 1974, p 217
Abortion of fetuses with spina bifida? To the editor: Dr. A.T. Kerigan asks "whether anyone has ever asked sufferers of spina bifida what value they put on their own life" (Can Med Assoc J 120: 913, 1979). Forrester1 has reported the results of a survey in which children with spina bifida were asked how they would feel if their mother was again pregnant with a fetus with spina bifida.
846 CMA JOURNAL/OCTOBER 6, 1979/VOL. 121
The children surveyed attended a day school for physically handicapped children run by the Wigan Area Education Authority. Approximately 50% of the 160 enrolled pupils suffered from spina bifida that was sufficiently severe to keep them out of the normal stream of education. A group of about 15 children aged 13 to 15 years were shown a television program about the ethics of saving fetuses with spina bifida. They were then asked, "If you knew that your mother was having another baby, and that it could be foretold that it had spina bifida, would you suggest that she go ahead with the pregnancy or that it be terminated?" Their reply was clear-cut and unanimous: they would advise abortion.1 The children further stated: "We are here and that can't be helped, but we would not wish this state on anybody else" (R.M. Forrester: personal communication, 1979). All these children had had good medical and surgical care since birth and were receiving full-time education in a very good day school near their homes. Individuals who champion the rights of a fetus with a neural tube defect should objectively assess the outlook for such individuals. Not only should it be asked "what value they put on their own life", but also how many are able to answer the question. The prospects of a child with anencephaly are self-evident but these children are often ignored by opponents of the screening process. Of all fetuses with neural tube defects 50% are either stillborn or die within 3 days of birth; a further 25% die by the age of 5 years, and of the remainder half are mentally retarded and have physical handicaps of various degrees.2 A study was recently performed in which infants born with neural tube defects were immediately transferred to a tertiary care hospital.3 Of the 67% of the infants who were able to undergo an operation immediately 10% died, and of the 12% who were able to undergo an operation subsequently 8% died; the remaining 21 % had inoperable conditions, and within 8 months 81% had died. Thus, approximately 60% of the total group were alive at the
We have observed a similar ex- samples. The average coefficient of cretory pattern for various crystal- determination (r2) for obtaining a bids in the urine of persons with straight line on all the Scatchard calcium stone formation and from plots was greater than 0.97 for both control subjects, and identical ob- patients and controls. The mean servations were made earlier.1" In kapp value (± 1 standard error addition, we have estimated the of the mean) was 0.124 ± 0.090 total ligand concentration (L) in the (mmol/l)1 for the patients and urine of 58 persons with recurrent 0.157 ± 0.136 (mmol/l)1 for the calcium stone formation and from controls. The total urine concentra36 control subjects. The total hg- tion of ligands was 18.5 ± 2.9 and concentration was estimated by mmol/l in the patients and 23.2 ± means of calcium titration, with the 4.8 mmol/l in the controls. The relative increase in total concentration of free calcium measured by an ion-specific electrode ligand concentration may be at(Orion Research Incorporated, tributed in part to greater excretion Cambridge, Massachusetts). It was of citrate in the controls. However, assumed that an apparent equili- citrate usually forms less than 20% brium constant (kapp) could be cal- of the total ligands. The variable culated from the equilibrium be- excretion of other ligands, such tween bound calcium (Cab) and free as protein, peptides, nucleotides, amino acids and other organic calcium (Caf). Thus, acids, may have contributed to the Cab differences between the two groups. kapp = Caf X Lf This area needs further evaluation before the true significance can be where Lr is the concentration of inferred. ligands with their calcium binding PRAVIN C. SINGHAL, MD, DM sites unoccupied. PHILIP F. HALL, MD, FRCS(C] ADA L. JACOBSON, PH D Cab against plot of Cab/Caf The Research fellow HENRY MANDIN, MD, FRCP[C] Department of obstetrics and gynecology is shown in Fig. 1 for typical urine JAMES B. HYNE, PH D
end of the first year. There is evidence that aggressive management of such patients results in an increased proportion of survivors with severe handicaps.4 Further subjective and objective follow-up assessment of patients with neural tube defects is needed. This should include assessment of the degree of progressive debilitation. and reassessment of such issues as the burden of care of the patient's family and the burden of long-term institutionalization, when it is required, on society. I would not be presumptuous enough to advocate abortion of fetuses with spina bifida, as Dr. Kerigan suggests. The only persons who can make such a choice are the prospective parents,6 and they should do so only when they have the most accurate, contemporary and objective information and the support of a compassionate health care team, and are unimpeded by the advocates of compulsory parenthood. Toronto General Hospital Toronto, Ont.
Faculties of medicine and science University of Calgary Calgary, Alta.
2.C
References 1. FORRESTER RM: Perspectives in spina bifida (C). Br Med J 2: 1571, 1978 2. Task force report: predictors of hereditary disease or congenital defects, in Proceedings of National institutes of Health Consensus Development Conference on A ntenatal Diagnosis. Bethesda, Md, Mar 1979, p 144 3. HUMPHREYS RP: Neural tube defects: one neurosurgeon's viewpoint. Mod Med Can 32: 407, Apr 1977 4. RICHARDS IDG, MCINTOSH HT: Spina
bifida survivors and their parents: a study of problems and services. Dev
Med Child Neurol 15: 293, 1973
References
1.6
1. ROBERTSON WG, PEACOCK M, NORDIN -J 4 C.) ILl
w
BEG: Activity products in stoneforming and non-stone-forming urine. Gun Sci 34: 579, 1968
1.2
2. MARSHALL RW, COCHRAN M, ROBERT-
IL
SON WG, et al: The relation between the concentration of calcium salts in the urine and renal stone composition in patients with calcium-containing renal stones. Gun Sd 43: 433, 1972
-i 08 4. C-)
C
z 0 0.4
5. Perspectives in spina bifida (E). Br Med J 2: 909, 1978
Gastrostomy - dilemma and solution
6. POWLEDGE TM, FLETCHER J: Guide-
lines for the ethical, social and legal issues in prenatal diagnosis. A report from the genetics research group of the Hastings Center, Institute of Sociology, Ethics and the Life Scien.es. N EngI I Med 300: 168, 1979
Hypoliganduria associated with calcium stone formation To the editor: We have read with interest the article on idiopathic calcium nephrolithiasis by Drs. G. Pylypchuk, U. Ehrig and DR. Wilson (Can Med Assoc J 120: 658, 1979).
I
I
0
2
I
4
6
BOUND CALCIUM
FIG. 1-Typical Scatchard plots of urine calcium titration for one control and one person with calcium stone formation; values (in mmolIl) represented by squares and circles respectively. Slope Is - k and y intercept kappt. For control sample total calcium concentration in urine was 3.89 mmol/l, r' = 0.997, kappL = 1.917, kapp = 0.214 (mmol /1)-', L = 8.9 mmol/l; and in urine of person with calcium stone formation total calcium concentration was 3.11 mmolIl, = 0.979, kappL = 0.563, kapp = 0.050 (mmol/l)1, L = 11.2 mmol/l.
848 CMA JOURNAL/OCTOBER 6, 1979/VOL. 121
To the editor: I am writing this letter in the hope that the experience of my husband and I may be of help to some patients who have had a gastrostomy and have to cope with feedings in the home. About 12 years ago my husband underwent brain surgery that resulted in paralysis of the throat and some of the right side. In later years he spent a large proportion of his waking hours trying to eat enough food to survive. Gastrostomy was mentioned as a possible
tient that the blood pressure was checked while the patient was standing: it was found to be 80/40 mm Hg. Intermittent porphyria was again suspected; the following day a urine specimen was strongly positive for porphobilinogen. Comment Acute intermittent porphyria has a variety of clinical features; each in itself is not diagnostic, but taken together they are presumptive evidence of the condition. Postural hypotension is easily determined and should now be considered a feature of the disease. In the first case it led to the diagnosis accidentally, and in the second case it was a useful factor in the clinical diagnosis. It should therefore be sought whenever acute intermittent porphyria is suspected; if present it makes further investigations mandatory. MYRE SIM, MD (EDIN), FRCP, FRC PSYCH, FRCP[C], DPM
Professor of psychiatry Faculty of health sciences University of Ottawa Royal Ottawa Hospital RAYMOND HUDON, MD
Grace Hospital Ottawa, Ont.
References 1. WHITTAKER
SRF,
WHITEHEAD
TP:
Acute and latent porphyria. Lancet 1: 547, 1956 2. ACKNER B, COOPER JE, GRAY CH,
et al: Excretion of porphobilinogen and 'y-aminolaevulinic acid in acute porphyria. Lancet 1: 1256, 1961 3. SCHMID R: Porphyria, in Textbook of Medicine, 13th ed, BEESON PB, MCDERMOTT W (eds), Saunders, Philadelphia, 1971, p 1704 4. Si. M: Guide to Psychiatry, rev 3rd ed, Churchill-Livingstone, Edinburgh, 1974, p 217
Abortion of fetuses with spina bifida? To the editor: Dr. A.T. Kerigan asks "whether anyone has ever asked sufferers of spina bifida what value they put on their own life" (Can Med Assoc J 120: 913, 1979). Forrester1 has reported the results of a survey in which children with spina bifida were asked how they would feel if their mother was again pregnant with a fetus with spina bifida.
846 CMA JOURNAL/OCTOBER 6, 1979/VOL. 121
The children surveyed attended a day school for physically handicapped children run by the Wigan Area Education Authority. Approximately 50% of the 160 enrolled pupils suffered from spina bifida that was sufficiently severe to keep them out of the normal stream of education. A group of about 15 children aged 13 to 15 years were shown a television program about the ethics of saving fetuses with spina bifida. They were then asked, "If you knew that your mother was having another baby, and that it could be foretold that it had spina bifida, would you suggest that she go ahead with the pregnancy or that it be terminated?" Their reply was clear-cut and unanimous: they would advise abortion.1 The children further stated: "We are here and that can't be helped, but we would not wish this state on anybody else" (R.M. Forrester: personal communication, 1979). All these children had had good medical and surgical care since birth and were receiving full-time education in a very good day school near their homes. Individuals who champion the rights of a fetus with a neural tube defect should objectively assess the outlook for such individuals. Not only should it be asked "what value they put on their own life", but also how many are able to answer the question. The prospects of a child with anencephaly are self-evident but these children are often ignored by opponents of the screening process. Of all fetuses with neural tube defects 50% are either stillborn or die within 3 days of birth; a further 25% die by the age of 5 years, and of the remainder half are mentally retarded and have physical handicaps of various degrees.2 A study was recently performed in which infants born with neural tube defects were immediately transferred to a tertiary care hospital.3 Of the 67% of the infants who were able to undergo an operation immediately 10% died, and of the 12% who were able to undergo an operation subsequently 8% died; the remaining 21 % had inoperable conditions, and within 8 months 81% had died. Thus, approximately 60% of the total group were alive at the
We have observed a similar ex- samples. The average coefficient of cretory pattern for various crystal- determination (r2) for obtaining a bids in the urine of persons with straight line on all the Scatchard calcium stone formation and from plots was greater than 0.97 for both control subjects, and identical ob- patients and controls. The mean servations were made earlier.1" In kapp value (± 1 standard error addition, we have estimated the of the mean) was 0.124 ± 0.090 total ligand concentration (L) in the (mmol/l)1 for the patients and urine of 58 persons with recurrent 0.157 ± 0.136 (mmol/l)1 for the calcium stone formation and from controls. The total urine concentra36 control subjects. The total hg- tion of ligands was 18.5 ± 2.9 and concentration was estimated by mmol/l in the patients and 23.2 ± means of calcium titration, with the 4.8 mmol/l in the controls. The relative increase in total concentration of free calcium measured by an ion-specific electrode ligand concentration may be at(Orion Research Incorporated, tributed in part to greater excretion Cambridge, Massachusetts). It was of citrate in the controls. However, assumed that an apparent equili- citrate usually forms less than 20% brium constant (kapp) could be cal- of the total ligands. The variable culated from the equilibrium be- excretion of other ligands, such tween bound calcium (Cab) and free as protein, peptides, nucleotides, amino acids and other organic calcium (Caf). Thus, acids, may have contributed to the Cab differences between the two groups. kapp = Caf X Lf This area needs further evaluation before the true significance can be where Lr is the concentration of inferred. ligands with their calcium binding PRAVIN C. SINGHAL, MD, DM sites unoccupied. PHILIP F. HALL, MD, FRCS(C] ADA L. JACOBSON, PH D Cab against plot of Cab/Caf The Research fellow HENRY MANDIN, MD, FRCP[C] Department of obstetrics and gynecology is shown in Fig. 1 for typical urine JAMES B. HYNE, PH D
end of the first year. There is evidence that aggressive management of such patients results in an increased proportion of survivors with severe handicaps.4 Further subjective and objective follow-up assessment of patients with neural tube defects is needed. This should include assessment of the degree of progressive debilitation. and reassessment of such issues as the burden of care of the patient's family and the burden of long-term institutionalization, when it is required, on society. I would not be presumptuous enough to advocate abortion of fetuses with spina bifida, as Dr. Kerigan suggests. The only persons who can make such a choice are the prospective parents,6 and they should do so only when they have the most accurate, contemporary and objective information and the support of a compassionate health care team, and are unimpeded by the advocates of compulsory parenthood. Toronto General Hospital Toronto, Ont.
Faculties of medicine and science University of Calgary Calgary, Alta.
2.C
References 1. FORRESTER RM: Perspectives in spina bifida (C). Br Med J 2: 1571, 1978 2. Task force report: predictors of hereditary disease or congenital defects, in Proceedings of National institutes of Health Consensus Development Conference on A ntenatal Diagnosis. Bethesda, Md, Mar 1979, p 144 3. HUMPHREYS RP: Neural tube defects: one neurosurgeon's viewpoint. Mod Med Can 32: 407, Apr 1977 4. RICHARDS IDG, MCINTOSH HT: Spina
bifida survivors and their parents: a study of problems and services. Dev
Med Child Neurol 15: 293, 1973
References
1.6
1. ROBERTSON WG, PEACOCK M, NORDIN -J 4 C.) ILl
w
BEG: Activity products in stoneforming and non-stone-forming urine. Gun Sci 34: 579, 1968
1.2
2. MARSHALL RW, COCHRAN M, ROBERT-
IL
SON WG, et al: The relation between the concentration of calcium salts in the urine and renal stone composition in patients with calcium-containing renal stones. Gun Sd 43: 433, 1972
-i 08 4. C-)
C
z 0 0.4
5. Perspectives in spina bifida (E). Br Med J 2: 909, 1978
Gastrostomy - dilemma and solution
6. POWLEDGE TM, FLETCHER J: Guide-
lines for the ethical, social and legal issues in prenatal diagnosis. A report from the genetics research group of the Hastings Center, Institute of Sociology, Ethics and the Life Scien.es. N EngI I Med 300: 168, 1979
Hypoliganduria associated with calcium stone formation To the editor: We have read with interest the article on idiopathic calcium nephrolithiasis by Drs. G. Pylypchuk, U. Ehrig and DR. Wilson (Can Med Assoc J 120: 658, 1979).
I
I
0
2
I
4
6
BOUND CALCIUM
FIG. 1-Typical Scatchard plots of urine calcium titration for one control and one person with calcium stone formation; values (in mmolIl) represented by squares and circles respectively. Slope Is - k and y intercept kappt. For control sample total calcium concentration in urine was 3.89 mmol/l, r' = 0.997, kappL = 1.917, kapp = 0.214 (mmol /1)-', L = 8.9 mmol/l; and in urine of person with calcium stone formation total calcium concentration was 3.11 mmolIl, = 0.979, kappL = 0.563, kapp = 0.050 (mmol/l)1, L = 11.2 mmol/l.
848 CMA JOURNAL/OCTOBER 6, 1979/VOL. 121
To the editor: I am writing this letter in the hope that the experience of my husband and I may be of help to some patients who have had a gastrostomy and have to cope with feedings in the home. About 12 years ago my husband underwent brain surgery that resulted in paralysis of the throat and some of the right side. In later years he spent a large proportion of his waking hours trying to eat enough food to survive. Gastrostomy was mentioned as a possible
