Case report
Paraneoplastic polymyositis in recurring adrenal gland carcinoma
Paul Lingor, Dirk von Boetticher, Mathias Bähr, and Klaus Fassbender
In 1999, a 65-year-old man presented to our hospital with a generalised, painless weakness of the limb muscles, which was most pronounced in the proximal leg muscles. Within the next 6 months the patient’s strength progressively deteriorated and he could only walk up to 10 m. The clinical examination revealed a weakness and subtle atrophy of the proximal muscles of both legs. Electrophysiological studies revealed signs of acute and chronic denervation in the affected muscles. Of all the routine laboratory variables examined, serum concentrations of creatine kinase (CK) were increased to 2010 U/mL at admission (figure). These values were in the normal range in an unrelated clinical visit in 1997 (figure).
The diagnosis of polymyositis was made and tests for neoplasia were done. An adrenal-gland tumour was found and removed. Histological examination suggested a diagnosis of undifferentiated (grade III) tumour of the adrenal cortex. Interestingly, CK values declined immediately after the operation (figure, arrow) and the patient’s strength improved slowly over the subsequent months.
In 2001, the patient presented with a similar reduction of his walking distance and again CK concentration was increased (figure). This time, a tumour mass was found in the contralateral adrenal gland which was identified as a metastasis of the primary adrenal gland carcinoma. A muscle biopsy sample from the iliopsoas muscle taken during the operation showed signs of acute and chronic myositis, supporting the initial diagnosis of a paraneoplastic polymyositis. The CK concentrations dropped again soon after the second operation (figure). The patient was discharged from the hospital, and after several months was able to walk about 100 m.
The patient’s CK concentration was then monitored by his general practitioner and the patient was referred to our service in 2002 because of a rise in CK values, even though no symptom progression was noticed by the patient himself (figure). An abdominal CT scan revealed a newly formed mass in the left renal region, later identified as a further metastasis of the adrenal gland tumour. We monitored CK, aldolase, myoglobin, and PM/Scl-75 antibody concentrations before and after surgical intervention; all showed a pronounced decrease after the tumour was removed (figure). The patient showed only a moderate
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weakness of the proximal muscles of his lower limbs and was able to walk about 50 m with the help of a cane, to do sit ups, and to climb stairs slowly.
The association of polymyositis with malignant neoplasias was suspected for a long time. Its low incidence, however, complicated statistical measurements and only recently were large population-based studies able to show a significant association between polymyositis and several malignant diseases, especially non-Hodgkin lymphoma, and lung and bladder cancer.1,2 Here, we report the first case of polymyositis associated with recurring adrenal gland carcinoma. In this patient, adrenal gland carcinoma appeared to cause the production of antibodies cross- reacting with antigens of the muscle tissue. PM/Scl-75 antigen (also known as exosome) could be such an antigen, as initially increased values of antibodies normalised after surgery of the adrenal-gland tumour (from 25.5 U/mL to 10 U/mL).3 In this patient, the remarkable relation of serially analysed CK values with tumour relapse turned out to be a useful tool for the prediction of neoplasm reappearance well before its clinical manifestation, which allowed early intervention.
PL, DvB, MB, and KF are at the Department of Neurology, Universitätsklinikum, Georg-August-University Göttingen, Germany Correspondence: Dr Paul Lingor, Department of Neurology, Universitätsklinikum, Robert-Koch-Str 40, 37075 Göttingen, Germany. Email plingor@gwdg.de
Case report
This case illustrates that polymyositis in elderly patients may be associated with malignant disease and that an adrenal-gland tumour may be a causative factor, which should be considered in the diagnostic assessment of polymyositis.
References
1 Hill CL, Zhang Y, Sigurgeirsson B, et al. Frequency of specific cancer types in dermato- myositis and polymyositis: a population-based study. Lancet 2001; 357: 96-100.
2 Sigurgeirsson B, Lindelöf B, Edhag O, Allander E. Risk of cancer in patients with derm- atomyositis or polymyositis: a population-based study. N Engl J Med 1992; 326: 363-67.
3 Brouwer R, Hengstman GJ, Vree Egberts W, et al. Autoantibody profiles in the sera of European patients with myositis. Ann Rheum Dis 2001; 60: 116-23.
Septo-optic dysplasia plus
Rafael Camino and Antonio Arjona
A 20-year-old man, with a history of congenital nistagmus and mild global developmental delay, presented with four left clonic seizures, which had each lasted for several minutes. A neuro-ophthalmic examination revealed a pendular nistagmus-attenuated with the gaze in the primary position-as well as hypoplasia in both optic discs and amblyopia. We could not observe the septum pellucidum on coronal MRI but saw right frontal subependymal nodular heterotopia (figure). We started treatment with valproic acid and the seizures did not recur.
Septo-optic dysplasia (SOD) is a developmental malformation reported by De Morsier that includes dysgenesis of the septum pellucidum, optic nerve hypoplasia, and other cerebral malformations. It is thought of a disorder of midline prosencephalic development. The symptoms, which occur especially when a disorder of cortical development is also present (SOD plus), consist of visual defects, endocrinological manifestations, developmental delay, motor deficits, and epileptic seizures.1
SOD plus is most frequently associated with schizencephalia, which is now recognised in the current classification of malformations of cortical development,2 as a differentiated syndrome called schizencephalia septo- optic dysplasia. SOD-plus is currently thought to be a genetic disorder that affects multiple stages of cortical development, as opposed to the classical vascular theory based on its association with schizencephalia.
RC is at the Hospital Infarta Margarita, Cabra, Cordoba, Spain. AA is at the Seccion de Neurologia, Hospital Torrecardenas, Almería, Spain. Correspondence: Dr Antonio Arjona, C/Violeta 70, E-04720, Aguadulce, Almería, Spain. Email aarjonap@medynet.com
Two cases of SOD plus associated with polymicrogyria have recently been published.1 The association of SOD with polymicrogyria and with subependymal heterotopia supports the idea that the cause of this syndrome is related to two different stages of cortical development and cannot be explained by one isolated disorder, whether vascular or not.
References
1 Miller SP, Shevell MI, Patenaude Y, Poulin C, O’Gorman AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology 2000; 54: 1701-03.
2 Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Classification system for malformations of cortical development. Neurology 2001; 57: 2168-78.