OBJECTIVES: Since the discovery of biallelic pentanucleotide expansions in RFC1 as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this article, we report a man with acute vestibular syndrome that likely unmasked a RFC1-spectrum disorder.

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in severe cortisol and aldosterone deficiency, leading to persistent adrenal stimulation and excess production of ACTH and adrenal androgens. This review examines the clinical considerations and challenges of balancing under- and overtreatment with glucocorticoids in adolescent and adult male individuals with CAH. Adolescents face many unique challenges that can hinder adherence, hormonal control, and...

The parasite island syndrome denotes shifts in parasite life histories on islands, which affect parasite diversity, prevalence and specificity. However, current evidence of parasite island syndromes mainly stems from oceanic islands, while sky islands (i.e. mountains isolated by surrounding low-elevation habitats) have received limited attention. To explore the parasite syndrome in Afrotropical sky islands, we examined haemosporidian blood parasites and their bird hosts in two Afromontane...

CONCLUSIONS: The findings suggest that infections are closely linked with Kawasaki disease, and with a wider temporal association than previously known. Further, the data imply that many different agents may induce the disease.