A CAJM article on congenital  porphyria in an African child in the 1950's in Southern Africa.The case here presented is of congenital porphyria occurring in a three-year-old Bantu girl of the Bapedi tribe. This is the second case of this rare type of porphyria recorded in the Bantu of Southern Africa.
The patient was admitted to the Jane Furse Memorial Hospital from a district clinic on 6th December, 1955, with a provisional diagnosis of scurvy. The history was that she had had measles a few weeks previously, and two weeks before admission developed weakness and tenderness of the legs and could not walk

Baxter, Barbara

Central African Journal of Medicine

English

The case here presented is of congenital porphyria occurring in a three-year-old Bantu girl of the Bapedi tribe. This is the second case of this rare type of porphyria recorded in the Bantu of Southern Africa.

The patient was admitted to the Jane Furse Memorial Hospital from a district clinic on 6th December, 1955, with a provisional diagnosis of scurvy. The history was that she had had measles a few weeks previously, and two weeks before admission developed weakness and tenderness of the legs and could not walk

Baxter,  Barbara

National Research Database of Zimbabwe

Erythropoietic (Congenital) Porphyria in a Bantu Girl

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D r .  D A V I D  L I V I N G S  T, O N.E
Vol. 4 No. 4  April, 195<J T h e  C entral African*J ournal of M edicine
Erythropoietic (Congenital) 
Porphyria in a Bantu Girl
BY
BARBARA BAXTER, m .b ., b .s . (Lond.)
Jane Furse Hospital, via Middelburg, Transvaal.
The case here presented is of congenital por­
phyria occurring in a three-year-old Bantu girl 
of the Bapedi tribe. This is the second case of this rare type of porphyria recorded in the 
Bantu of Southern Africa.
Illustrative Case
The patient was admitted to the Jane Furse Memorial Hospital from a district clinic on 6th December, 1955, with a provisional diagnosis of 
scurvy. The history was that she had had measles a few weeks previously, and two weeks before admission developed weakness and tender­
ness of the legs and could not walk.
The patient was the fourth child of healthy parents, had a straightforward delivery and was normal except that, from birth, she passed red urine consistently, had a “patchy” skin and was 
considered a weakling. A year before the pre­sent admission the child developed weak legs 
and blebs on the skin. These bled if scratched 
or produced water. The illness resembled the present one and she was admitted to Jane Furse Hospital. After two months she was discharged 
well, and remained so until the present episode. The parents, the father’s other wife and all the patient’s siblings were healthy and free from 
similar symptoms. The paternal grandmother 
is healthy; the other grandparents had been well during their lifetime.
On examination the child was well grown and 
plump and looked about 3J to 4 years. She 
was extremely lethargic, lay curled up on her side all day, but would co-operate in her exami­nation. The skin was very dark and powdery, 
as though rubbed in coal-dust. There were several healing blebs on her face and limbs. The hair was normal, but the scalp showed patches 
of desquamation thought at that time to be heal­
ing impetigo. The teeth were foul, buff-coloured beneath a layer of debris which obscured the 
tooth outlines. The gums were hypertrophic and bled on touch. The nails were dull, thickened and raised off the nail bed at the tips; later a toe nail was shed completely. The mucous 
membranes were rather pale.
Page One Hundred and Forty-Eight
The skeletal system showed no abnormality apart from marked tenderness of the lower legs 
and ankles. The child refused to take weight on the legs.
The tympanic membranes showed what ap­
peared to be collections of blood within the layers of the drum below the tip of the malleus on both sides, reminiscent of influenzal bullous haemorrhagic otitis media. The heart and lungs 
were normal. The abdomen was normal apart from a four fingers’ breadth spleen. The liver edge was not felt. The superficial structures of 
the eye and the ocular fundi were normal when seen by the hospital ophthalmologist, Dr. J. H. W. 
Wessels. The diagnosis of scurvy seemed most likely, but a syphilitic periostitis was considered with a multiple vitamin deficiency in addition. The Mantoux 1/1000 was negative at 72 hours. X-ray of the lower limbs was normal.
At this point the nurse reported that the urine was deep red and stained the sheets, A specimen of urine was sent to Mr. Barnes at the Bio­
chemistry Department of the South African In­stitute for Medical Research, Johannesburg, who 
reported (22nd December, 1955) : “Porphyrin present (in the urine) in fair quantity; urobilin and a little urobilinogen present.” Porphobi­linogen was never detected in fresh specimens 
of urine. The child’s general condition improved on hospital diet and hygiene, vitamins and 
haematinics; notwithstanding the last, the 
anaemia progressed. Two doses of chloral hydrate were administered without upset.
The findings were in keeping with a diagnosis of porphyria and the child was transferred on 17th January, 1956, to Edenvale Hospital, under 
the care of Dr. G. Lange, for further investiga­
tion. On re-examination the following points were apparent:
Hypertrichosis was present, with excess of fine 
hair over face, neck, back and extensor aspect of the limbs. An ulcer, almost punched out, was present in the region of the left deltoid, with a scar of a healed bulla over the lateral aspect 
of the left wrist, and a bulla containing milky fluid on the right forearm. A firm liver edge was palpable one finger’s breadth below the 
costal margin. The patient was able to stand, but not able to walk.
On demonstration under ultra violet light, using a Wood’s filter, deep pink fluorescence was seen in the teeth and vulva (urine contamina­tion) and the urine and faeces (19th January, 
1956).
April, 1958 CONGENITAL PORPHYRIA IN A BANTU T h e  Central AfricanJ ournal of M edicine
While in hospital the blood picture consistently 
showed evidence of a haemolytic anaemia, which was borne out by the marrow puncture. Por­phyrin excretion in stool and urine was very 
high. Liver function tests suggested a mild 
impairment of liver function.
The porphyrin excretion in the urine and faeces before the operation is summarised in Table I:
The bone marrow count on the 19th January, 
1956, was reported as follows:
Reticulum cells, — ; myeloblasts, 0.8 per cent.; pro­myelocytes, 0.4 per cent.; neutrophil myelocytes, 0.4 per cent.; eosinophil myelocytes, 4.4 per cent.; eosino­phils, — ; neutrophil metamyelocytes, 2.0 per cent.; staff cells, 4.8 per cent.; segmented neutrophils, 5.6 per cent.; segmented eosinophils, 0.8 per cent, monocytes, 0.4 per cent.; prolymphocytes, — ; lymphocytes, 5.6 per cent.; pronormoblasts, 2.4 per cent.; early normoblasts,
/Table
Porphyrin Excretion
URINE FAECES
Total Porphyrin, 
mg. per day.
Coproporphyrin, 
mg. per day.
Coproporphyrin, 
/xg./g. dry weight.
Protoporphyrin, 
jxg./g. dry weight.
Jan. 19 1,550 57
20: 14.3 3.5 1,540 47
21: 5.5 1.9 932 26
22: 10.5 2.8 740 60
23: 10.5 2.4 800 58
25: 18.4 3.8
29: 9.6 2.5
30: 8.7
Feb. 1: 14.4
3: 7.6 1,240 113
4: 3.7
6: 13.4
8: 6.7
9: 5.6
13: 1.1 43 8
15: 4.8
20: 11.5
22: 14.7
The blood counts from 17th January, 1956, to the 20th February, 1956, are given in Table 
II.
Com m ents
19.1.56: The picture is that of an haemolytic anaemia.
7.2.56: There is still diffuse basophilia, anisocytosis and macrocytosis of red cells.
14.2.56: There is a fall in haemoglobin level with moderate anisocytosis and moderate increased diffuse polychromasia.
20.2.56: Little change since 14.2.56. Prothrombin 
index 88 per cent.
7.2 per cent.; intermediate normoblasts, 32.8 per cent.; late normoblasts, 28.4 per cent.; total nucleated cell count, 200,000 per cu./mm.; myeloid/erythroid ratio, 1:3.4.
S ummary
This is a very hypercellular marrow having intense erythroid hyperplasia which is normoblastic in type. Myelopoiesis and platelet genesis appear relatively hypoplastic. There is an eosinophilia present. On ex­amination by ultra-violet light the majority of the normoblasts were observed to show reddish fluorescence.
Com m ent
The erythroid hyperplasia is consistent with an haemolytic anaemia and the fluorescence observed
Page One Hundred and Forty-Nine
Aran., 1958 CONGENITAL PORPHYRIA IN A BANTU T he  (Central AfricanJ ournal of M edicine
T a b le  l l
Details of Blood Counts
19.1.56 7.2.56 14.2.56 20.2.56
Haemoglobin (g. per 100 ml.) ............. 9.0 9.4 7.2 7.7
ESR mm./hour (normal 1-15 child) 43 61 70 63
PCV per cent. ............................................ 29 30 22 24
MCHC per cent.................................................. 31 31 33 32
MCV cum............................................................. 89
White cells—
Per c.mm. ............................................ 6,600 4,800 7,300 8,800
Neutrophils ............................................ 28.0 44.0
Monocytes ............................................ 3.0 2.5
Lymphocytes ............................................ 58.0 47.0
Eosinophils ............................................ 11.0 6.0
Basophils ............................................ — 0.5
Late normoblasts .................................. — —
Platelets Normal Nos. Normal in num­ber and size Normal in num­ber
Reticulocytes ...................................................... 16% 9.5%
Hypochromia ...................................................... ± \
Anisocytosis ...................................................... +  +
Poikilocytosis ...................................................... +
Macrocytosis ...................................................... +
Diffuse basophilia ............................................ +
Target cells ...................................................... +
in the normoblasts is in keeping with the diagnosis of congenital porphyria (Porphyria erythropoietiea).
Red Cell Fragility (19.1.56): The test showed re­sistance of red blood cells to he normal. Haemolysis commenced in 0.5 per cent, saline and was complete in 0.3 per cent, saline.
Liver junction tests (7.2.56) : Thymol turbidity, 5.5 units; thymol flocculation, positive H— |- + ;  colloidal red, positive +  -{— 1— cephalin cholesterol floccula­tion, negative takata ara reaction, positive H—(-; zinc sulphate turbidity, 25.6 units; total lipid, 392 mg. per cent.; alkaline phosphatase (K.A.), 16.0 units; Van den Bergh reaction, delayed direct; bilirubin, direct, 0.3 mg. per cent.; bilirubin, total, 0.9 mg. per cent.; total protein, 7.6 gm. per cent.; albumin, 3.3 gm. per cent.: globulin, 4.3 gm. per cent.; gamma globulin, 
1.61 gm. per cent.; cholinesterase, 93 per cent, of average normal activity.
Com m ent
When compared with the findings in ‘“normal” Bantu children of the same age, these results suggest mild impairment of liver function (Dr. I. Bersohn).
Blood Chemistry (8.2.56; Dr. M. M. F. Fitzpatrick) : Urea =  24 mg. per cent.; potassium ~  3.9 meq./litre
Page One Hundred and Fifty
— 15.5 mg. per cent.; plasma chloride — 100 meq./litre— 585 mg. per cent, (as NaCl) ; C02 combiningpower — 21 meq./litre; sodium — 122 meq./litre— 280 mg. per cent.; Schumms test negative, 9.2.56; serum inorganic phosphorus, 5.0 mg./lOO ml. Serum 
calcium 4.7 meq./L. Direct Coombs test was negative, 11.2.56. Prothrombin index ~  88 per cent, of normal; 20.2.56 control clotted in 11.1 seconds; specimen clotted in 12.6 seconds.
On these findings a diagnosis of congenital porphyria was firmly established, and since 
amelioration of symptoms in this condition has 
been reported after splenectomy (Aldrich e t aL, 1951), this operation was suggested and the 
consent of the parents obtained.
Medication before operation consisted of atropine gr. 1/100 by hypodermic injection. An intravenous infusion of 5 per cent, dextrose in water was set up. Splenectomy was performed by Mr. Norwich on 23rd February, 1956. At 
operation, lasting 20 minutes, an enlarged spleen
April , 1958 BANTU CORONARY INSUFFICIENCY T he  C entral A fricanJ okknal ok M edicine
aged about 48 years. This was Trowell’s first case in East Africa in over 26 years of practice there. The patient enjoyed a diet rich in meats and eggs, butter and animal fats for eleven 
years. He was a portly figure and weighed
204 lb. In 1947 he experienced severe renoster- nal pain on effort and it recurred in August. 1955. His blood pressure in 1955 was 210/110. On 2nd January, 195(x he developed an acute attack of severe pain lasting some 10 minutes, 
for which he was admitted to the Mulago Hos­
pital. The blood cholesterol was 260 mg. per cent. The cardiographic changes were more 
typical of left heart strain than of a coronary 
infarction, showing depression of the ST seg­ments in leads V4 and 6. The T waves were 
inverted T4 and and V4 and V(1. In this case the pain was perhaps of rather shorter duration than one would expect in coronary infarction 
and the E.C.G. was not characteristic, as it could be attributed to the hypertension.
The infrequency of coronary artery disease 
in the Bantu has led to valuable research being done by the Cape Town Medical Department 
under Prof. Brock. Bronte-Stewart, Keys and Brock studied the serum cholesterol and lipo­protein levels in the three main racial groups in 
Cape Town, viz., Bantu, Cape Coloured and European. Highly significant differences in the 
total cholesterol level, particularly in the P lipoprotein fraction of the serum were found, 
the lowest levels being found in the Bantu and at the other extreme came the European. The fat consumption of the Europeans was more 
than twice that of the Bantu, with the Coloured group being intermediate. The results of these interesting investigations would support the 
hypothesis that the dietary intake of fat in­
fluences the level of serium cholesterol, especially 
that in the P lipoprotein.
Yet another cause given for the apparent rarity 
of coronary artery disease amongst the Bantu was made by Brink. He found that in the Bantu
heart there appeared to be an extra large branch of the left coronary artery arising close to the 
origin of this artery. He named it the third primary division of the left coronary artery and 
it ran posteriorly over the surface of the heart 
and its posterior border. Brink further remarked that the right coronary artery supplied a greater part of the posterior surface of the left ventricle in the Bantu as compared with that of the European. Thirdly, Brink observed that the 
anterior descending branch of the left coronary artery sometimes passed over the outer border 
of the heart and ascended posteriorly for a very 
long distance.
It is felt that within the next few years many 
more cases of coronary infarction will be pub­lished. So far there can be no doubt that occa­sionally one does meet a case admitting to anginal 
pains and which would fit in more nearly with coronary thrombosis or angina pectoris than 
with any other disorder. It is true, however, to state that so far the majority of cases recorded are atypical in one or more features, and it is 
for this reason that it might be preferable at this stage to refer to them as cases of “Bantu coron- 
arv insufficiencv.”
REFERENCES
A i.u ik o o k . I). (1956). Latuet. 2, 606. 
Br o n te-Stew art. B., K eys. A. & Brock . J. F. (1955). 
Lancet. 2, 1103.
Davies. J. N. P. (1948). E. Af. med. J.. 25, 322. 
Gr u sin . H. & Dando . R. V. (19561. Med. Pruc.. 2, 290. 
M eltzek. E. & R onald . A. C. (1952). .S. Af. med. J., 
26, 435.
T row ell. H. C. & S in g h . S. A. (1956). E. Af. med. J 33, 391.
W alker . A. R. P. & A vidsson . U .  B .  (1954). J. din. 
Invest.. 33, 1352.
W illia m s , A. W. (1938). E. Af. med. J.. 15, 279. 
W ood. P. (1956). Diseases of the Heart and Circula­
tion. Eyre & Spottiswoode. p. 733.
A c k n o w le d g m e n t
We wish to thank Dr. R. M. Morris. O .B.E., 
for his permission to publish this paper.
Page One Hundred and Fifty-S 'ine
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Erythropoietic (Congenital) Porphyria in a Bantu Girl

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