1993; Vol. 60. No. 2

REFERENCES

3. Wenyan CM. Observations on the common intestinal protozoa of man. Their diagnosis and pathogenicity. Lancet 1915; 2 : 1173-1183.

2. Brandberg LL, Goldberg SB, Brieden- bach WC. Human coccidiosis: A pos- sible cause of malabsorption. N Engl J Med 1970; 283 : 1306-1313.

3. Soave R, Jhonson WD Jr. Cryptospo- ridium and lsospora belli infection, l In- &ct Dis 1988; 157 : 225-229.

4. Smitskamp H, Oey-Muller E. Geo- graphical distribution and clinical sig- nificance of human coccidiosis. Trop Geog Med 1966; 18 : 133-136.

5. De Oliveira GS, Barbosa W, Dasilva AL. Isosporose humana em goias. Rev Pat Trop 1973; 387-395.

THE INDIAN JOUICNAL OF PEDIATRICS 301

6. DeHovitz JA, Pape JW, Boncy Met al. Clinical manifestations and therapy of I. belIi infection in patients with ac- quired immune deficiency syndrome. N EngI JMed 1986; 315 : 87-90.

7. Beaver PC, Jung RC, Cupp EW. Clini- cal Parasitology. 9th edn. Philadelphia : Lea and Febiger. 1983.

8. Weiss LM, Perlman DC, Sherman Ie t al. Isospora belli infection : Treatment with pyrimethamine. Ann Intern Med 1988; 109 : 474-475.

9. Musey KL, Chidiac C, Beaucaire G et al. Effectiveness of roxithromycin for treating Isospora belli infection. J Infect Dis 1988; 158 : 646.

10. Pape JW, Verdier R, Jhonson WD et al. Treatment and prophylaxis of lsospora belli infection. N Engl J Med 1989; 320 : 1044-1047.

Fibrous Dysplasia in Two Siblings

A.K. Sarkar, A.K. Ghosh, S.N. Chowdhury, S.K. Biswas and S.K. Bag

Departnlent of Pediatrics, Institute of Post Graduate Medical Education & Research and S.S.K.M. Hospital, Calcutta-700 020

F ibrous dysplasia is a locally circum- scribed non-differentiation of bone-

forming mesenchyma. Individual lesions are composed of dense fibrous tissue in medullary bone, interspersed with thin bone trabeculae (often covered by wide osteoid seams) and some times islands of cartilage. 1 Though dif ferent clinical types of fibrous dysplasia have been described, but tile disease occurring si- multaneously in two siblings is hitherto u n k n o w n and therefore is being re- ported.

CASE REPORT

Case 1

A 10 year old boy was brought for evalu- ation of increasing head size, changing facial configurat ion, wide-spread de- formities of upper and lower limbs of both sides, spine, sternum, bone-pain and finally complete crippling. The child was born to non-consanguinous unaf- fected parents after a full-term normal delivery. The delivery and immediate neonatal period were uneventful. Subse-

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Fig. 1. Patients showing bony deformities. Multiple swellings over the skull in elder sibling are also visible (ar- rowed)

quently since 10 days of birth, the infant was observed with gross hardness and swelling of both thighs, restriction of movements of both hip and knee joints. His motor milestones were delayed. Gradually, the head circumference had increased and deformities in other bones started appearing. At 2 to 21/2 years of age firm swellings appeared over the skull. In course of time, bones of legs, arms, forearms and spine became bent and normal configuration was distorted. Medical aid was sought on different oc- casions for the deformity but without any result.

Family history reveled that apart from normal parents, the patient had two brothers. The eldest one aged 13 years was quite normal, while the youngest brother aged 21/~ years (case 2) was be- lieved to be suffering from same type of disease.

On examination the child showed de- formed facies with head circumference of 61 cm and bony swellings seven in number of varying sizes over the skull.

He had kyphoscoliosis, gross anteropos- terior bowing with swelling of both leg- bones with resultant leg-length discrep- ancy. Marked lateral bowing with swel- ling of bones of arms and forearms of both sides were also present. The patient had elevation of the lower and depres- sion of the upper part of sternum (Figure 1). There were no other neurological or systemic abnormalities.

Routine laboratory investigations (hemoglobin, TLC, DLC, ESR)were with- in normal limits. Serum calcium, phos- phorus and alkaline phosphatase levels were 9.5 mg/dl , 4.8 mg/dl and 225 IU/L (normal range 20-150 IU/L) respectively. Thyroid function tests, growth hormone and plasma ACTH level showed no ab- normality.

Fig. 2. X-ray film of the lower limbs of case 1, showing gross bowing with multi- locular appearance beneath a thin cortex.

1993; Vol. ~0. No. 2 THE INDIAN JOURNAL OF PEDIATRICS 303

Radiological Features

Radiography of lower limbs showed gross bowing with multilocular appear- ance beneath a thin cortex (Figure 2). Lateral roentgenogram of the skull re- vealed increased diploic spaces, mottled areas of increased and decreased density

Fig. 3. Lateral roentgenogram of skull of case 1, showing increased diploic spaces, mottled areas of increased and decreased density, and sclerosis of inner table and the base.

Fig. 4. Microphotograph of" bone biopsy of case 1, showing histological features of fibrous dysplasia : irregular curves of spicules of bony trabeculae are lying between the bundles of fibrous tissue. There is no clear cut osteoblas- tic layer around the bony spicules. (H&E • 80).

and sclerois of inner table and the base (Figure 3).

.An openbone biopsy from tibia showed histological features of fibrous dysplasia: irregular curve of spicules of bony trabeculae were lying between the bundles of fibrous tissue (Figure 4). There was no clear cut osteoblasic layer around the bony spicules.

Case 2

A 21/2 year old male child (brother of case 1) was also brought to us for de- formities of the limbs since one year of age. The child had short stature with de- layed motor mile stones.

Examination revealed the morpho- logical appearance of the child some- what like that of his elder brother (Figure 1) with gross lateal bowing and swelling of both the humerus at the upper part. Femur, tibia on either dises also showed mild bowing.

Laboratory investigations including hemogram, serum calcium, phosphorus and hormones assay for thyroid, adrenal and pituitary status showed no abnor- mality. However, alkaline phosphatase level was 180 IU/L. Roentgenogram of lower limbs showed cyst-like spaces at lower end of femur, and tibia of bothsides with osteoporotic changes around both knee joints. Open bone bi- opsy revealed histology of fibrous dysplasia as seen in case 1.

DISCUSSION

Fibrous dysplasia may occur in three clinical forms. These are, (i) monostotic which is isolated to one bone; (ii) polyos- totic which affected two or more bones; and (iii) Albright's syndrome,which is a

%04 THE INDIAN JOURNAL OF PEDIATI<ICS

polyostotic form associated with abnor- mal skin pigmentation, precocious pu- berty, and non-skeletal manifestation. 2 Both the patients of our study (case 1 & case 2) were suffering from polyostotic variety of fibrous dysplasia. Polyostotic fibrous dysplasia without endocrine dys- function accounts for about 25% of cases. Fhe bony sites affected in descending order or frequency are the fenlur, skull, tibia, humerus, ribs, fibula, radius, ulna, ,nandible, vertebra and others. In this disorder the craniofacial bones are af- fected in 50% of patients with moderate dissemination of lesions, but tile fre- quency reaches 100% in those with ex- tensive disease as has been found in case 1. 3.~ Gross facial disfigurenaent is often due to involvement of tile skull (leontia- sis ossea) 4. Tendency to involve shoulder and pelvic girdles; the development of severe, sometimes crippling deformity, marked predisposition to the develop- ment of spontaneous and often recurrent fractures are some of the hallmarks of the disease. '

One of the salient features of polyos- totic fibrous dysplasia was the wide spectrum of initial manifestations. One patient had vaginal bleeding at 3 months of age. Most patients showed evidene of skeletal disease by the age of ten years, but in some patients wide-spread bone !esions remained totally silent and unre- cognised until as late as the seventh dec- ade) The occurence of such clinically apparent osseous disorder in the new- born period (case ]) is a rarity and worth-men tioning.

The roentgenographic appearance of most individual long-bone lesions of fi- brous dysplasia may mimic other lesions including unicameral bone cysts, aneu-

1993; Vol. 60. No. 2

rysmal bone cysts and non-ossifying fi- bromata. However, two roentgenogra- phic features such as extension of the process from epiphyseal plate to epiphy- seal plate and increased density at the base of the skull occuring in conjunction with long-bone lesions are diagnostic of fibrous dysplasia. The lytic lesions of fi- brous dysplasia may resemble brown tumours of hyperparathyroidism, the age of the patients, normocalcaemia and increased density of bone in skull iden- tify the former condition, s

The fundamental nature of this disor- der remains unknown, but it does not appear to be genetically determined. 6 Although the disease l~[as been reported to affect monozygotic twins ~, but the oc- curence of such disorder in two siblings is unique and probably first of its kind in medical literature.

As no cure of the osseous disorder is known, treatment consists only of cor- recting skeletal fractures and associated deformities.

REFERENCES

1. Strewler GJ. Osteonecrosis, osteo- sclerosis and other disorders of bone. In : Wyngaarden JB, Smith LH, eds, Cecil's Text Book of Medicine Vol 2, ]Sth edn, Philadelphia : W.B. Saunders, 1988; 1519-1520.

2. Nager GT, Kennedy DW, Kopstein E. Fibrous dysplasia : A review of the dis- ease and its manifestations in tile tem- poral bone. ,4m~ Otol Rhinol Laryl~.gol 1982; 91 (Suppl) (92) : 1-52.

3. Harris WH, Dudley HR Jr, Barry RJ. The natural history of fibrous dyspla- sia: An orthopedic, pathological and roentgenographic study. J Bone Joi,t Surg (Br) 1962; 44A : 207-233.

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4.

5.

Grabias SL, Campbell CJ. Fibrous dysplasia. Orthoped Clin North Am t977; 8 : 771. Krane SM, Schiller AL. Hyperostosis, neoplasms and other disorders of bone and cartilage. In : Wilson JD, Braun- wald E, Isselbacher KJ et al, eds. Harri- son's Principles of Internal Medicine. Vol Ii, 12th edn, New York : Mcgraw - Hill

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6. 1991; 1945-1947. Speck WT. Fibrous Dysplasia (Albright Syndrome; Mc Cune-Albright Syn- drome; Polystotic Fibrous Dysplasia) In : Vaughan VC, Mckay RJ Jr, Behrman RE. eds, Nelson's Text Book of Pediatrics, 11th edn, Philadelphia: W.B. Saunders Co. 1979; 1839-1840.

Cole-Carpenter's Syndrome

R.K. Marwaha, Bidisha Sarkar, S. Katariya* and K. Jayshree

Departmeuts of Pediatrics & *Radiology, Post Graduate Institute of Medical Education and Research, Chandigarh

o bteogenesis imperfecta is a hetero- genous group of heritable disorders

of connective tissues characterised by bone fragility. Four major types of os- teogenesis imperfecta syndrome have been described along with other rare variants. ~ In t987, Cole and Carpenter reported two cases of a variant of os- teogenesis imperfecta. 2 The salient fea- tures in these cases were multiple frac- tures, ocular proptosis, craniosynostosis, hydrocephaly and distinctive facies. The aim of this communicat ion is to describe another case with characteristics similar to those described in the Cole-Carpenter ~yndrome.

CASE REPORT

A 5 months old male child was first brought to our Institution at 15 days of age with the complaint of a large head. This baby, a product of a non-consangui-

nous marriage was born at term, by a normal vaginal de l ivery to a second gravida mother, who had an uneventful pregalancy. There was no history of birth asphyxia. At birth the baby weighed 1000 grams. A right-sided ventriculo- peritoneal shunt was inserted for a com- municating hydrocephalus. The postop- erative period was uneventful. The next encounter with the patient was at the age of 5 months, when he reported to the Genetics Clinic with failure to thrive.

Examination revealed an active and alert infant, weighing 2.5 kg. He had not yet attained complete head control. Tile length was 57 cms with an upper seg- ment :lower segment ratio of 1.7:1, an arm span of 48 cms and chest circumfer- ence of 32.5 cms. He had a large head with a wide open anterior fontanelle and sutural separation. The sclerae were blue with mild proptosis of both eyes. There was micrognathia, high arched palate