636 THE INDIAN JOURNAL OF PEDIATRICS

In both our patients, there is no clear evi- dence of affected family members. The mother of the first patient is said to have some of the facial features; however she has delivered 8 children with no complications. If at all, the disorder is probably mild in her. In favour of this patient having been affected by a new mutation, is tile paternal age of 53 years at the time of her conception. The sec- ond patient appears to be a new mutation. About 16% of cases of CCD are estimated to be sporadic rather than inherited. 6

REFERENCES

1. Greig DM. Neanderthaloid skull presenting features of cleidocranial dysostosis and

Vol. 59, No. 5

other peculiarities. Edinburgh M J 1933; 40 : 497.

2. Jackson WPU. Osteodental dysplasia (clei- docranial dysostosis). Acta Med Scandinav 1950; 139 : 292-307.

3. Marie P, Sainton P. Sur la dysostose clei- docranienne hereditaire. Rev Neurol 1898; 6 : 835.

4. Lasker GW. The inheritance of cleidocra- nial dysostos|s. Human Biol 1946; 18 : 103.

5. Jensen B. Somatic development in cleido- cranial dysostosis. Am J Med Genet 1990; 35 : 69-74.

6. Forland M. Cleidocranial dysostosis: a re- view of the syndrome and report of a spo- radic case with hereditary transmission. Am JMed 1962; 33 : 792-799.

Acro-osteolysis of Phalanges in a Case of Cystic Fibrosis

A.K. Sarkar, S.K. Bag, S.K. Biswas and S.G. Saha

Department of Pediatric Medicine, IPGME&R and SSKM Hospital, Calcutta

Cystic fibrosis of the pancreas, now usually known simply as cystic fibrosis has been rec- ognized clearly as a disease entity only since the late 1930s. Though it is considered to be the commonest inherited condition among populations in file so called developed coun- tries,' it seems possible from recent re- ports 2,3 that file incidence among Pakistanis and Indians, most of whom are of caucasian race, is greater than has been suspected hith- erto. Bhakoo et al 4 reported one case and Mehta et al 5 six clinical cases of cystic fibro- sis in Indian children.

The term acro-osteolysis should apply to instances in which the phalanges are affected exclusively. 6 Phalangeal forms are charac- terized primarily by the resorption of bone in

the terminal phalanges, though other por- tions may be affected. The rare association of acro-osteolysis in a case of cystic fibrosis prompted us to report tim case.

CASE REPORT

An eight and a half year old first female child of non-consanguinous well to do par- ents, was admitted in SSKM Hospital in August 1991, with complaints of recurrent hacking cough usually persistent, at times paroxysmal, often followed by vomiting since six months of age. The girl used to have frequent episodes of fever, nasal dis- charge, cough and respiratory distress for the same period. There was history of recurrent

SARKAR ET AL : ACRO-OSTEOLYSIS OF PHALANGES IN CASE OF CYSTIC FIBROSIS 637

poorly formed offensive large bowel move- ments, more so after taking fatty foods since infancy. For the past two years, she had been suffering from cough with purulent expecto- ration, most prominent in the early hours of the morning often streaked with blood and even frank hemoptysis. There was failure to thrive inspite of increased appetite. The girl's parents are healthy, and two younger siblings aged five and two years are not suf- fering from similar features. Birth history and milestones of life were reported to be normal.

Physical examination disclosed grade II malnutrition, weight 17 kg, height 108 cm and mid ann circumference 13.5 cm. Her skin was dry and mottled. Neck veins were not engorged. Jaundice, edema, cyanosis were all absent. Pulse was 124/rain, respira- tion 28hnin, BP 90/60 mm of ttg and grade IV clubbing. Examination of respiratory sys- tem revealed barrel shaped chest moving equally on both sides and increased reso- nance on percussion. Cardiac apex was on 4th left intercostal space in the midclavicular line. Breath sounds were diminished in both sides, vesicular in nature with prolonged ex- piration and plenty of coarse crepitations and scattered ronchi on both sides. Abdomen was soft with no palpable faecal mass. Liver was palpable 2 cm and spleen 1.5 cm below file costal margin. No other signs of portal hypertension were present. ENT and Oph- thalmological examination were non-con- tributory.

Blood picture, urine analysis, liver func- tion tests and blood biochemistry including sugar, cholesterol, calcium, sodium and po- tassium were normal. Serum amylase was 180 somogyi units/dl. Thyroid function tests showed no abnormality. Stool microscopy revealed presence of increased fat globules and 24 hours fat excretion in stool was 2.8 g.

D-xylose absorption test was normal. Mantoux test was negative and no accel-

erated reaction was noted following BCG vaccination. Throatswab culture showed nor- mal pathogens. Examination of sputum showed no AFB and culture revealed growth of staph, aureus sensitive to cephalexin, erythromycin, gentamicin, chloramphenicol, kanamycin and ciprofloxacin. X-ray film of chest showed coarse mottlings on both sides (Figure 1). X-ray film of both hands revealed bone age between 7-12 years and atrophic changes of the terminal phalanges of the fin- gers of both sides (Figure 2). X-ray of file paranasal sinuses showed both maxillary an- trums opaque (Figure 3). ECG and echocar- diogram revealed no abnormality. USG & CT scan of file abdominal organs including

Fig. 1. X-ray film of the chest showing coarse mottlings on both sides.

638 THE INDIAN JOURNAL OF PEDIATRICS Vol. 59, No. 5

pancreas showed no demonstrable pathol- ogy. Sweat test which was repeated showed Na§ mEq/L and cr i52 mEq/L. Duodenal intubalion for pancreatic function tests and trypsin content in stools could not be done due to lack of facility.

The child was treated with antibiotics de- pending on sensitivity of the bacterial patho- gens isolated from culture of the sputum and clinical situations, chest physiotherapy, high caloric diet, vitamin supplements, pancreatic enzymes and at times with mucolytic agents and bronchodilators.

DISCUSSION

Sporadic reports of children who were probably affected by cystic fibrosis appeared in the early years of the century. It is a gen- eralized disease affecting many and perhaps all exocrine glands, mucus-producing and others. 7

Cystic fibrosis have diverse clinical fea- tures but the triad of recurrent pulmonary in- fections, maldigestion-malabsorption and abnormal sweat tests ,are the classical mani- festations of the disease. About 85% of cases

Fig. 2. X-ray film of hands showing atrophic changes of terminal phalanges of fingers of both sides (Photograph of the selected portion is also provided for inset/better visualiza- tion).

are diagnosed under 15 years of age. In our case the girl was 8V2 years old. Our patient had exhibited the features of recurrent respi- ratory infections and malabsorption from the age of 6 months, which might be an impor- tant pointer in diagnosis of CF. The normal

Fig. 3. X-ray film of the paranasal sinuses with opacity of both maxillary antra.

SARKAR ET AL : ACRO-OSTEOLYSIS OF PHALANGES IN CYSTIC FIBROSIS 639

fat content in stool in this particular case is probably due to error in collecting stool specimen properly. The classical radiologi- cal findings of the chest, paranasal sinuses and results of sweat test which was repeated, together with typical clinical presentation in this case were indicative of the diagnosis of CF. A few pertinent investigations were also carried out in this case to exclude false posi- tive sweat test. Moreover, our patient had also exhibited acro-osteolysis of terminal phalanges on roentgenogram of both hands. Acro-osteolysis is often seen secondary to diseases like hyperparathyroidism, sclerod- enna, leprosy, progeria, pyenodysoslosis, syphilis, epidermolysis bullosa, psoriasis, neurogenic ulcerative acropathy and some other systemic diseases) The isolated form is relatively infrequent, 9 ,'although the ph- alangeal involvement in association with le- sions elsewhere is common. Whether atro- phic changes of the terminal phalanges in this case is a separate entity, or an associa- tion of the disease process is beyond our knowledge at present. Itowever, in depth study of such cases may throw some light in future on this aspect.

REFERENCES

1. Anderson CM, Goodchild MC. Cystic Fi-

brosis Manual of Diagnosis and Management. Oxford : Blackwell Scientific Publications 1976; 1-8.

2. Reddy CRRM, Devi CS, Anees AM et al. Cystic fibrosis of the pancreas in India. J Pediatr 1969; 75 : 522-523.

3. Goodchild MC, Insley J, Rushton DT, Gaze H. Cystic fibrosis in 3 Pakistani children. Arch Dis Child 1974; 49 : 739-741.

4. Bhakoo ON Kumar R, Wahia BNS. Mu- covisciodosis of the lung, Indian J Pediatr 1968; 35 : 183-184.

5. Mehta S, Wadhwa UN, Mehta SK, Chut- tani PN. Fibrocystic disease of pancreas in India. Indian Pediatr 1968; 5 : 185-187.

6. Cheney WB. Acro-osteolysis. Am J Roentgenol 1965; 94(3): 595-607.

7. Di Sant, Agnese PA. Cystic Fibrosis. In : Vaughan VC, Mckay Jr RJ, Behram RE, eds. Nelson's Text Book of Pediatrics; Philadelphia : W.B. Saunders 1979; 1988- 2001.

8. Silverman IN. X-ray of bones In : Silver- man IN, cd. Caffey's PediatricX-ray Diagnosis. Vol I, 8th edn, Chicago : Year Book Medical Publishers 1975; 662-665.

9. Joscph R, Nezelof C, Guerand L e t al. Acro-ostcolyse idiopathique familiale. Renseignementsfournis par la biopsie. Semin Hosp Paris 1959; 35 : 622-629.

Family Outbreak of Scalp Phthiriasis

Sarman Singh, Niti Singh*, Sheila Roy*, and S.P. Garg**

Departments of Microbiology, *Pediatrics and **Opltthalmology, All India Institute of Medical Sciences, New Delhi

Inspite of file fact that tile pubic louse (Ph- thirus pubis) infestation of pubic hair, chest and body hair, perianal area, axilla, eye

lashes and eye brows is well known; in- volvement of scalp is a rar e phenomenon, t'3 The reason for this difference in localisation