A 30 year old male presented with insidious onset of painless swellings in tendons over 20 years, with learning difficulty, tremors, progressive instability of gait and frequent falls. There was no similar illness in family. On examination, there was firm, non tender, nodular swelling Achilles, patellar and tricep tendon, clubbing of fingers. The Mini Mental Status Examination score was 16/30. Plantar response was extensor. There was cerebellar signs with nystagmus, truncal titubation, ataxic gait and intentional tremors. Cranial MRI showed bilateral hyperintensities in dentate nucleus, globus pallidus, periventricular white matter on FLAIR/T2 sequences, and diffuse cerebral and cerebellar atrophy. The patient was diagnosed as having cerebrotendinous xanthomatosis based on the clinical and radiological features. As cerebrotendinous xanthomatosis benefit from therapy and progress of the disease is preventable, the case illustrates the need for early diagnosis.

The effects of the coronavirus disease 2019 (COVID-19) pandemic on male fertility have received considerable attention because human testes contain high levels of angiotensin-converting enzyme-2 receptors, through which severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can enter. Early studies showed decreases in semen quality during and after recovery from COVID-19. However, no semen quality studies have examined the effects of widespread subclinical and mild disease, as well as changes in lifestyle, psychosocial behavior, intake of dietary supplements, and stress. This cross-sectional study compared semen quality parameters in male partners of infertile couples between men who underwent semen analysis before the COVID-19 pandemic (prepandemic group) and men who underwent semen analysis during the pandemic period (pandemic group); the analysis sought to clarify the overall effects of the pandemic. No participants in the pandemic group had experienced clinically overt disease. Among the 239 participants, mean body weight (P = 0.001), mean body mass index (P < 0.001), median sperm concentration (P = 0.014), total sperm count (P = 0.006), and total percentages of motile (P = 0.013) and abnormal cells (P < 0.001) were significantly greater in the pandemic group (n = 137) than those in the prepandemic group (n = 102). Among abnormal cells, the percentages of cells with excess residual cytoplasm (P < 0.001), head defects (P < 0.001), and tail defects (P = 0.015) were significantly greater in the pandemic group than those in the prepandemic group. With the exception of morphology, the overall semenogram results were better in the pandemic group than those in the prepandemic group.
Humans ; Male ; Pandemics ; Infertility, Male ; COVID-19 ; Cross-Sectional Studies ; Testis ; SARS-CoV-2 ; Semen ; Semen Analysis ; Sperm Count