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Oncocytoma and noncompaction in metabolic myopathy

2016; Elsevier BV; Volume: 207; Linguagem: Inglês

10.1016/j.ijcard.2016.01.186

1874-1754

Josef Finsterer, Claudia Stöllberger,

Ion channel regulation and function

Oncocytomas are usually benign and only rarely malign neoplasms made up of epithelial cells characterized by an excessive amount of mitochondria giving the cytoplasm an acidophilic and granular appearance [ [1] Máximo V. Rios E. Sobrinho-Simões M. Oncocytic lesions of the thyroid, kidney, salivary glands, adrenal cortex, and parathyroid glands. Int. J. Surg. Pathol. 2014; 22: 33-36 Crossref PubMed Scopus (30) Google Scholar ]. Most frequently oncocytomas can be found in the kidneys and more rarely in the suprarenal glands, the salivary glands, the thyroid gland, or the pituitary gland [ [2] López F. Vivanco B. Suárez C. Llorente J.L. Anterior skull base oncocytoma. J. Craniofac. Surg. 2013; 24: e199-e201 Crossref PubMed Scopus (2) Google Scholar ]. Oncocytomas are usually not associated with cardiac disease. Here we report a patient in whom renal oncocytoma was associated with left ventricular hypertrabeculation/noncompaction (LVHT). The patient is a 51 yo Caucasian male, height 175 cm, weight 75 kg, who was referred after accidental detection of LVHT on echocardiography carried out for exertional dyspnoea. His previous history was noteworthy for surgery for pyloric stenosis as a newborn, increased fatigability since 10 y with frequent yawning, easy drift offs, even in his job, and sleep disturbance, being attributed to obstructive sleep apnea syndrome. He was put on nocturnal CPAP ventilation but unfortunately did not tolerate the plastic mask. Additionally, he reported muscle cramps of the calves, matutinal muscle stiffness, myalgias, and polyarthralgia. He had noted incremental impotentia together with erectile dysfunction. In 6/2013 (age 49 y) he had undergone resectioning of a benign right-sided renal oncocytoma (pT1, L0, V0, R0, Clavien Dindo classification grade II) without complications. At age 50 y he had to undergo bilateral functional endoscopic sinus surgery (FESS) because of chronic sinusitis. Despite this treatment he recognized recurrently swollen cervical lymph nodes. He had multiple small liver cysts, renal cysts, cysts of the thyroid gland, transient hypothyroidism, and a struma nodosa (since 2006), which was scheduled for thyroid biopsy. His history was additionally positive for recurrent presyncopal states, a hiatal hernia, gastritis, arterial hypertension, lienal hemangiomas, benign prostate hyperplasia, previous prostatitis (8/2012), nicotine abuse until 8 months earlier, recurrent elevation of liver transaminases, flatulence, and transient thrombocytopenia. He was no longer able to perform sport because of easy fatigability, exercise intolerance, hyperhidrosis, and vertigo. Occasionally, he noted bloody stools which were attributed to diverticulosis of the sigma. His family history was positive for cerebral tumor (father) resulting in suicide, myocardial infarction (mother), thyroidectomy because of malignoma (mother), short stature (mother), exertional dyspnea (mother), and mild cognitive impairment (mother). No family screening for LVHT had been carried out. He was on a permanent medication with candesartan (8 mg/d) and nebivolol (2.5 mg/d).Clinical neurologic exam revealed myopia and narrow, downslanting lid fissures, but was otherwise normal. MRI of the cerebrum revealed gliotic spots in the right basal ganglia and the subcortical medullary layer bilaterally. Carotid ultrasound was normal. Nerve conduction studies of the peroneal nerves, the right tibial nerve, and the right sural nerve were non-informative. Abdominal ultrasound confirmed the known multiple liver and renal cysts and the hemangioma in the spleen. Antibodies against borrelia burgdorferi were negative. There was a mild elevation of TPO antibodies, mild elevation of T4, and mild increase of the thyroidea stimulating hormone (TSH). There was mild recurrent thrombocytopenia. Serum iron and transferrin saturation were both recurrently elevated. He complained about recurrent mild elevation of the body temperature since 2006, in the absence of a chronic infection, a malignoma, relapse of the oncocytoma, or confirmed immune-deficiency. Gastroscopy in 4/14 had shown hiatal hernia and antral gastritis. Clinical cardiologic exam was normal. Transthoracic echocardiography revealed LVHT in the apex and concentric thickening of the left ventricular myocardium (Fig. 1). Systolic function was preserved. 24 h-blood pressure monitoring was normal. 24 h-ECG recording revealed supra-ventricular tachycardia and a single, non-sustained ventricular run why the dosage of nebivolol was increased. He is currently on a waiting list for implantation of a loop recorder. The patient is interesting for multisystem disease affecting the cerebrum (leucencephalopathy), the skeletal muscle (myopathy), the endocrine organs (struma nodosa, thyroid cysts, prostate hyperplasia, impotentia, hyperhidrosis), the heart (LVHT, arrhythmias, arterial hypertension, presyncopes), the gastrointestinal tract (neonatal pyloric stenosis, hiatal hernia, diverticulosis, flatulence, inguinal hernia), liver (cysts, elevated transaminases), spleen (hemangiomas), the kidneys (cysts, oncocytoma), and the bone marrow (recurrent thrombocytopenia). Whether these abnormalities had a common cause or not remains speculative. Barth syndrome and myotonic dystrophy type 1 as possible underlying causes were excluded upon the clinical presentation, instrumental investigations, and the neurological findings. The patient is also interesting for LVHT, which has been previously reported in association with multisystem disease [ 3 Sá M.I. Cabral S. Costa P.D. Coelho T. Freitas M. Torres S. et al. Cardiac involvement in type 1 myotonic dystrophy. Rev. Port. Cardiol. 2007; 26: 829-840 PubMed Google Scholar , 4 Finsterer J. Stöllberger C. Disabling myopathy with chorea and noncompaction. Int. J. Cardiol. 2015; 181: 32-34 Abstract Full Text Full Text PDF PubMed Scopus (2) Google Scholar , 5 Finsterer J. Stöllberger C. Noncompaction in alleged motor neuron disease suggests myopathy. Int. J. Cardiol. 2014; 177: 639-640 Abstract Full Text Full Text PDF PubMed Scopus (5) Google Scholar , 6 Finsterer J. Stöllberger C. Acquired/hidden noncompaction in metabolic encephalopathy with non-convulsive epileptic state. Int. J. Cardiol. 2014; 172: e341-e343 Abstract Full Text Full Text PDF PubMed Scopus (11) Google Scholar , 7 Finsterer J. Stöllberger C. Acquired, familial noncompaction and eccentric hypertrophic cardiomyopathy associated with metabolic myopathy and epilepsy. Int. J. Cardiol. 2012; 160: 73-75 Abstract Full Text Full Text PDF PubMed Scopus (10) Google Scholar , 8 Finsterer J. Stöllberger C. Leriche-syndrome despite regular sport and non-compaction suggest neuromuscular disease. Int. J. Cardiol. 2015; 191: 15-17 Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar , 9 Finsterer J. Stöllberger C. Apical noncompaction in metabolic myopathy may be missed on echocardiography but visible on cardiac MRI or misinterpreted as apical hypokinesia. Int. J. Cardiol. 2012; 160: e15-e17 Abstract Full Text Full Text PDF PubMed Scopus (10) Google Scholar ]. Whether arrhythmias in the presented patient were attributable to LVHT or not remains speculative. Arguments for LVHT as the cause of the arrhythmias are that coronary heart disease was absent and that arrhythmias are a frequent complication of LVHT. It also remains questionable if presyncopes were truly attributable to arrhythmias, since only a single ventricular run was recorded on Holter monitoring. Whether the multiple gliotic spots resulted from small subclinical emboli originating from the inter-trabecular recesses also remains speculative. Leucencephalopathy could also originate from arterial hypertension or could represent primary cerebral degeneration. Recurrently elevated body temperature was attributed to chronic sinusitis, diverticulosis, or recurrence of the oncocytoma. Recurrently elevated temperature has been reported in patients with oncocytoma producing interleukin-6 [ [10] Kawahara Y. Morimoto A. Onoue A. Kashii Y. Fukushima N. Gunji Y. Persistent fever and weight loss due to an interleukin-6-producing adrenocortical oncocytoma in a girl — review of the literature. Eur. J. Pediatr. 2014; 173: 1107-1110 Crossref PubMed Scopus (11) Google Scholar ]. However, in the presented patient there was no indication for a relapse of the oncocytoma, chronic sinusitis had been treated by FESS, and except for flatulence he did not report abdominal complaints. Continuously elevated body temperature has not been reported in association with leucencephalopathy. The patient had neuromuscular problems including easy fatigability, exercise intolerance, muscle cramps of the calves, matutinal muscle stiffness, and myalgias. Though there was no muscle weakness and despite repeatedly normal CK values a myopathy cannot be excluded since sleep apnea syndrome, leucencephalopathy, or chronic infection do not explain the neuromuscular symptoms. Endocrine disturbances also did not sufficiently explain muscle involvement. There was no anemia, which could explain the impaired resilience. An argument in favor of a neurometabolic disease is the family history revealing short stature, mild cognitive impairment, thyroidectomy because of malignoma, and exertional dyspnea in the mother. This case shows that LVHT may be associated with multisystem disease, including oncocytoma and myopathy. Patients with myopathy and oncocytoma should be investigated for LVHT. Risk management of patients with myopathy must align according to the presence or absence of cardiac involvement, particularly LVHT.