No abstract

NAA10-related syndrome is an extremely rare X-chromosomal disorder, the symptoms of which include intellectual disability (ID), ocular anomalies, or congenital heart diseases, such as hypertrophic cardiomyopathy (HCM). Here, we describe a 4-year-old Japanese male patient who exhibited mild ID, HCM, and specific facial features. A hemizygous mutation (NM_003491.3: c.455_458del, p. Thr152Argfs*6) in exon 7 of NAA10 was detected. We recommend that patients undergo precise medical follow-up considering the characteristics of NAA10-related syndrome.

No abstract

Febrile myoclonus is considered a benign symptom of myoclonic jerks associated with fever. Although cases have been sporadically reported, it is a poorly characterized phenomenon. In this study, we reported the case of a previously healthy 20-month-old boy who developed atypically prolonged myoclonic jerks, appearing more than 100 times over a period of 3 days. Blood cultures were negative, and his electroencephalogram was normal. The patient was discharged with a diagnosis of febrile myoclonus and was followed up for several months. His brain magnetic resonance imaging and brain development were also normal. Physicians must understand the benign clinical course of febrile myoclonus in order to avoid unnecessary procedures such as lumbar puncture.