Gynecomastia on computed tomography: a helpful finding for the diagnosis of spinal and bulbar muscular atrophy
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LETTER TO THE EDITOR
Gynecomastia on computed tomography: a helpful finding for the diagnosis of spinal and bulbar muscular atrophy Makoto Kobayashi1 Received: 15 August 2020 / Accepted: 4 September 2020 © Belgian Neurological Society 2020
Keywords Computed tomography · Gynecomastia · Kennedy’s disease · Spinal and bulbar muscular atrophy Dear Editor-in-Chief: Spinal and bulbar muscular atrophy (SBMA), also called Kennedy’s disease, is a type of motor neuron disease caused by a CAG trinucleotide repeat expansion in the first exon of the androgen receptor gene. SBMA involves proximal limb weakness and atrophy, bulbar dysfunction, fasciculations, hand tremor, and gynecomastia [1]. The diagnosis can be difficult in some cases; however, gynecomastia is a relatively specific sign for this neurological disease and may aid in the diagnostic work-up. Gynecomastia is a benign proliferation of the mammary glands in the male breasts due to the increased ratio of estrogen to androgen activity and usually diagnosed on physical examination as palpable masses [2]. Physiological gynecomastia may be found in infancy, puberty, and senescence. Pathologic causes include exposure to drugs, hypogonadism, tumors (e.g., pituitary, testicular, adrenal, or ectopic human chorionic gonadotropin-secreting tumors), hyperthyroidism, liver cirrhosis, kidney disease, and androgen insensitivity [2]. Especially, androgen insensitivity may be the cause of gynecomastia in patients with SBMA [2]. Gynecomastia revealed on computed tomography (CT) has increasingly become regarded as a helpful finding in patients who are undergoing dialysis, or have liver cirrhosis or testicular cancer [3, 4]. Because the size of the mammary glands can be measured on CT [3, 4], the objective assessment probably leads to the detection of mild gynecomastia in asymptomatic patients. Here, we report the case of a patient with SBMA, in whom chest CT disclosed the presence of gynecomastia and helped to establish the diagnosis. * Makoto Kobayashi ma‑[email protected]‑net.ne.jp 1
Department of Neurology, Asahi General Hospital, 1326 I, Asahi, Chiba 289‑2511, Japan
Moreover, in SBMA, this CT finding has not been reported before. A 65-year-old man with no remarkable medical and familial history visited our hospital because he gradually became unable to clearly speak. On physical examination, the patient had dysarthria, tongue atrophy, proximal lower limb weakness of grade 4 on the Medical Research Council scale, and absent tendon reflexes in all four limbs. There was no swelling of his breasts on visual inspection. In blood biochemistry tests, serum creatine kinase (447 U/L; normal range, 61–257 U/L), aspartate aminotransferase (32 U/L, 13–30 U/L), and alanine aminotransferase (46 U/L, 10–42 U/L) were elevated with normal levels of glucose, triglyceride, and low- and high-density lipoprotein cholesterol. Nerve conduction study demonstrated diffusely decreased sensory nerve activation potentials. Needle electromyogram exhibited fibrillations, positive sharp waves, fasciculations, a
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