1992, The British Journal of Radiology, 65, 178-181 DALKIN, B. & ZAONTZ, M. R., 1989. Rhabdomyosarcoma of

the penis in children. Journal of Urology, 141, 908-909. DIERKS, P. R. & HAWKINS, H., 1983. Sonography and penile

trauma. Journal of Ultrasound in Medicine, 2 (9) 417-419. ESCRIBANO, A., ALLONA, A., BURGOS, F. J., GARCIA, R., NAVIO,

S. & ESCUDERO, A., 1987. Cavernosography in the diagnosis metastatic tumors of the penis. Five new cases and a review of the literature. Journal of Urology, 138, 1174-1177. GELBAND, M., SANTI, D. & KAUFFMAN, J. J., 1981. Ultrasonic

imaging of Peyronie's plaques. Journal of Urology, 125, 44-46. GLUCK, C. D., BUNDY, A. L., FINE, C , LOUGHLIN, R. &

RITCHIE, J. P., 1988. Sonographic urethrogram. Comparison to roentgenographic techniques in 22 patients. Journal of Urology, 140, 1404-1408. HAYS, D. M., RANEY, R. B. JR., LAWRENCE, W. JR., SOULE,

E. H., GEHAN,

E. A. & TEFFT,

M., 1982a. Intergroup

Rhabdomyosarcoma Study (IRS-I). Cancer, 50, 1472-1482. HAYS, D. M., RANEY, R. B. JR., LAWRENCE, W. JR., TEFFT, M., SOULE, E. H., CRIST, U. M., FOULKES, M. & MAURER, H. M.,

1982b. Primary chemotherapy in the treatment of children with bladder-prostate tumor in the Intergroup Rhabdomyosarcoma Study (IRS-II). Journal of Pediatric Surgery, 17, 812-819. HERTZ, M., 1990. Cystourethrography. In Clinical Urography, Volume 1, ed. by H. M. Pollack, (W. B. Saunders Co., Eastbourne), pp. 280-284.

Case reports HRICAK, H., WILLIAMS, R. D., SPRING, D. B., MOON, K. I. JR., HEDGCOCK, M. W., WATSON, R. A. & CROOKS, L. E., 1980.

Anatomy and pathology of the male pelvis by magnetic resonance imaging. American Journal of Roentgenology, 141, 1101-1110. HRICAK, H., MAROTTI, M., GILBERT, T. J., LUE, T. F., WETZEL, L. H., MCANINCH, J. W. & TANAGO, E. A., 1988. Normal

penile anatomy and abnormal penile conditions. Radiology, 169, 683-690. KAZAM, E., AUH, Y. H., RUBENSTEIN, W. A., MANKISZ, J. A. &

ZIRINSKY, K., 1990. Computerized tomography of the lower urinary tract and pelvis. In Clinical Urography, Volume 1, ed. by H. M. Pollack, (W. B. Saunders Co., Eastbourne), p429. PAK, K., SAGAGUCHI, N., TAKAYAMA, H. & TOMOYOSHI, T.,

1986. Rhabdomyosarcoma of the penis. Journal of Urology, 136, 438-439. PRATT, R. M. & Ross, R. T. A., 1969. Leiomyosarcoma of the penis. British Journal of Surgery, 56, 870-872. RAGHAVAIAH, N. V., 1978. Corpus cavernosograms in evaluation of carcinoma of the penis. Journal of Urology, 120, 423-424. ROSENFELD, A . T., RlGSBY, C . M . , BURNS, P. N . & ROMERO, R.,

1990. Ultrasonography of the urinary tract. In Clinical Urography, Volume 1, ed. by H. M. Pollack, (W. B. Saunders Co., Eastbourne), pp. 368-369.

An unusual presentation of pulmonary alveolar microlithiasis and diaphyseal aclasia By * t D . A. Ritchie, M B , ChB, FRCR, t S . A. O'Connor, M B , BS, FRACP and §D. McGivern, D M , MRCP Departments of "Radiology and §Respiratory Medicine, Hull Royal Infirmary, Anlaby Road, Hull HU3 2JZ, UK and ^Department of Cardiology, Royal Canberra Hospital, Acton, Canberra, ACT 2601, Australia

(Received 3 April 1991 and in revised form 8 July 1991, accepted 20 September 1991)

Keywords: Pulmonary alveolar microlithiasis, Diaphyseal aclasia

Pulmonary alveolar microlithiasis is a rare disease characterized by deposition of calcified bodies in the alveoli, which produce dense sand-like micronodules throughout the lungs. The radiological, pathological and clinical features have been previously well described (Sosman et al, 1957; Thurairajasingam et al, 1975; Prakash et al, 1983; Fraser et al, 1991). Diaphyseal aclasia (Solomon, 1963; Murray et al, 1990) is one of the more common anomalies of skeletal development with an estimated prevalence of nine per million (Voutsinas & Wynne-Davis, 1983). Inherited as an autosomal dominant trait, most cases present during childhood development owing to deformity and complifPresent address: Department of Radiology, Royal Liverpool University Hospital, Prescot St, Liverpool L7 8XP, UK.

178

cations; however, milder cases may only be detected later in life by chance. Both pulmonary alveolar microlithiasis and diaphyseal aclasia demonstrate a familial tendency and have specific radiological features, but they are not known to be related. We present a case of pulmonary alveolar microlithiasis found incidentally while under investigation of skeletal deformity. Case report In 1967, a 5-year-old boy was referred to an orthopaedic clinic with right upper limb deformity. His developmental milestones were slightly retarded, but he was otherwise well. A radiograph of his right humerus revealed an osteochondroma in the upper shaft and an abnormal adjacent lung field. A chest radiograph (Fig. 1) showed a diffuse dense interstitial process with a predominantly nodular pattern. There was The British Journal of Radiology, February 1992

Case reports

Figure 1. Chest radiograph showing a diffuse dense micronodular process in both lungs, which becomes more confluent centrally where there is slight blurring of the mediastinal borders. Note the osteochondromas in both upper humeri. blurring of the mediastinal borders and a faint negative pleural shadow. Further osteochondromas were demonstrated in other parts of the skeleton in keeping with diaphyseal aclasia. Although the patient was well and had no respiratory symptoms, an open lung biopsy was performed. Histology showed alveoli filled with concentrically laminated smooth calcispherites without fibrosis, appearances diagnostic of pulmonary alveolar microlithiasis. Over the next 3 years, the osteochondroma of his right humerus enlarged in size (Fig. 2) and was therefore resected. Histologically, the osteochondroma showed no evidence of sarcomatous change. In 1988 (aged 26 years), he presented with a spontaneous left pneumothorax (Fig. 3), which was aspirated successfully and since then he has remained well. Lung function has been assessed on several occasions since 1987 (Table I) and the trend could suggest a restrictive impairment of ventilation. Radiographic examination revealed no evidence of either disease in his immediate family (parents and sister), his maternal relatives (four step-siblings, aunt and uncle) or his paternal relatives (aunt and two siblings). Discussion

Figure 2. Radiograph of right humerus showing the osteochondroma has increased in size over 3 years. Note the tiny dense punctate nodules in the adjacent lung and negative pleural shadow. Vol. 65, No. 770

Pulmonary alveolar microlithiasis is a rare disease described in all age groups, from premature still-born twins (Caffrey & Altman, 1965) to an 80-year-old woman (Sears et al, 1971), with a mean age at presentation of approximately 35 years (Thurairajasingam et al, 1975). To date, there are less than 200 reported cases in the literature (Fraser et al, 1991). Although its aetiology remains unknown, approximately half the recorded cases are familial, implicating an inborn error of metabolism. However, this has not been proven. X-ray energy spectroscopy and microscopic infrared spectroscopy have been used to define the nature of the microliths thus helping to explain the pathogenesis of the disorder (Barnard et al, 1987). The disease is not confined to the alveoli since calcispherites have also been demonstrated in the bronchial walls (Sears et al, 1971), lumbar sympathetic chain and possibly testis (Coetzee, 1970). Typically the disease is discovered incidentally, making its course difficult to predict. Several cases 179

Case reports

Figure 3. Chest radiographs (a) before and (b) after aspiration of left pneumothorax. Progression of the disease is shown with marked confluence at the bases and almost complete obliteration of the mediastinal and diaphragmatic contours. Note further osteochondromas of both scapulae with consequent deformity of the adjacent ribs.

(Fraser et al, 1991), including our own, have remained asymptomatic for over 20 years; however the disease is usually progressive with development of interstitial fibrosis leading to cyanosis, polycythaemia and eventually respiratory failure with cor pulmonale. Spontaneous pneumothorax, clubbing and haemoptysis have all been reported (Sosman et al, 1957). Lung function tests are often normal despite the presence of gross radiological abnormality (Sosman et al, 1957); however, a restrictive impairment of ventilation may develop, together with an increase in the alveolar-arterial oxygen gradient and a fall in transfer factor (Prakash et al, 1983). The pattern of microcalcification is virtually unique and in established cases, with typical radiological appearances and family history, open biopsy is hardly justifiable. Corticosteroids, chelating agents and Table I. Lung function tests Test

FEV, FVC D L CO

Percentage of predicted (mean) normal value January 1987

June 1988

81 79 89

85 76 68

FEV, = forced expiratory volume (litres) in 1 s; FVC = forced vital capacity (litres); D L CO = diffusing capacity of the lung for carbon monoxide (mmol/min/kPa).

180

bronchial lavage have been used to treat the condition with no apparent success (Thurairajasingam et al, 1975; Palombini et al, 1981; Chalmers et al, 1986). In diaphyseal aclasia (Solomon, 1963; Murray et al, 1991), disordered growth in endochondral bone results in the formation of multiple osteochondromas, typically in the pelvis, shoulder and long bones. Radiologically the osteochondroma forms a well defined eccentric protrusion continuous with the cortical and trabecular components of the parent bone and has a cartilage-capped apex. The osteochondroma migrates up the shaft of the bone as the physis grows away from it until there is fusion of the adjacent epiphyseal plate when growth of the lesion ceases. Osteochondromas are often asymptomatic but can produce pressure effects on tendons, nerves and vessels. More importantly, large sessile lesions may interfere with the epiphyseal plate causing disordered growth with resultant bowing, limb-length discrepancy and joint dysfunction. Sarcomatous degeneration may occur in a stable lesion with a frequency reported as high as 10% by some authors (Solomon, 1963), however it is likely that the true figure is lower, between 1 and 2%, as .many cases go unidentified (Voutsinas & Wynne-Davis, 1983). We have described the clinical and radiological findings in an interesting patient with pulmonary alveolar microlithiasis and diaphyseal aclasia, respectively. The low prevalence of the latter and the rarity of the former make the chances of both diseases occurring in the same patient extremely remote. We do not know of any The British Journal of Radiology, February 199J

1992, The British Journal of Radiology, 65, 181-182 Case reports causative link associating them and it is likely that in the case reported here both diseases occurred spontaneously as new mutations.

MURRAY, R. O., JACOBSON, H. G. & STOKER, D. J., 1990. The

Radiology of Skeletal Disorders, 3rd edn (Churchill Livingstone, Edinburgh), Vol. II, pp. 826-830. PALOMBINI, B. C , DA SILVA PORTO, N., WALLAU, C. U. &

CAMARGO, J. J., 1981. Bronchopulmonary lavage in alveolar microlithiasis. Chest, 80, 242-243.

References BARNARD, N. J., CROCKER, P. R., BLAINEY, A. D., DAVIES,

PRAKASH, U. B. S., BARHAM, S. S., ROSENOW III, E. C , BROWN,

R. J., ELL, S. R. & LEVISON, D. A., 1987. Pulmonary alveolar microlithiasis. A new analytical approach. Histopathology, 11, 639-645.

M. L. & PAYNE, W. S., 1983. Pulmonary alveolar microlithiasis. Mayo Clinic Proceedings, 58, 290-300.

CAFFREY, P. R. & ALTMAN, R. S., 1965. Pulmonary alveolar

microlithiasis occurring in premature twins. Journal of Pediatrics, 66, 758-763. CHALMERS, A. G., WYATT, J. & ROBINSON, P. J.,

SEARS, M. R., CHANG, A. R. & TAYLOR, A. J., 1971. Pulmonary

alveolar microlithiasis. Thorax, 26, 704-711. SOLOMON, L., 1963. Hereditary multiple exostoses. Journal of Bone and Joint Surgery, 45B, 292-304.

1986.

SOSMAN, M. C , DODD, G. D., JONES, W. D. & PILLMORE,

Computed tomographic and pathological findings in pulmonary alveolar microlithiasis. British Journal of Radiology, 59, 408-411. COETZEE, T., 1970. Pulmonary alveolar microlithiasis with involvement of the sympathetic nervous system and gonads. Thorax, 25, 637-642.

G. U., 1957. The familial occurrence of pulmonary alveolar microlithiasis. American Journal of Roentgenology, 77, 947-1012. THURAIRAJASINGAM,

S.,

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KASTHURIRATNA, T., 1975. Pulmonary alveolar microlithiasis. Australasian Radiology, 19, 175-180.

FRASER, R. G., PARE, J. A. P., PARE, P. D., FRASER, R. S. &

VOUTSINAS, S. & WYNNE-DAVIS, R., 1983. The infrequency

GENEREUX, G. P., 1991. Diagnosis of Diseases of the Chest, 3rd edn (W. B. Saunders, London), Vol. IV, pp. 2693-2696.

of malignant diseases in diaphyseal aclasia and neurofibromatosis. Journal of Medical Genetics, 20, 345-349.

Carcinoma of the ovary: a diagnostic hitch By I. Zammit-Maempel, MRCP, FRCR, P. M. Hughes, MRCP, FRCR, U. Patel, MRCP, FRCR and R. J. Johnson, MRCP, FRCR Department of Diagnostic Radiology, Christie Hospital and Holt Radium Institute, Wilmslow Road, Manchester, UK (Received 25 March 1991 and in revised form 10 June 1991, accepted 12 July 1991) Keywords: Ovary, Carcinoma, Transposition

Ovarian transposition during hysterectomy for carcinoma of the cervix is occasionally practised. Transposed ovaries can be variable in position and cause diagnostic difficulty on computed tomography (CT) when operative detail is incomplete (Reed et al, 1989). We report a case of a cystic adenocarcinoma that arose in a transposed ovary and presented as an epigastric mass. We review the literature concerning ovarian conservation with relevance to diagnostic imaging.

regarding the ovarian conservation was available at the time of scanning but it was suspected that the mass was ovarian in origin given its size and general appearance, despite its atypical

Case report A 36-year-old female patient undergoing a cone biopsy of the cervix was found to have an incompletely excised carcinoma in situ. She refused radiotherapy and in January 1984 underwent a modified Werthein's hysterectomy with ovarian conservation. She remained well until December 1989 when she presented with a large epigastric mass. Abdomino-pelvic CT showed a large, well encapsulated cystic mass with a small solid component extending from the epigastrium to the false pelvis (Figs 1, 2) and causing a right hydronephrosis. No information Address reprint requests to Dr I. Zammit-Maempel, Department of Radiology, Manchester Royal Infirmary, Oxford Road, Manchester 13 9WL, UK.

Vol. 65, No. 770

Figure 1. CT scan through the upper abdomen showing a large cystic encapsulated mass with a small solid component. 181