Two delayed-diagnosis case reports of long-lasting thrombocytopenia with splenomegaly.

RATIONALE: Gaucher disease (GD) is a rare hereditary lysosomal storage disorder disease progression and inappropriate treatment. However, not all patients with GD receive timely diagnosis and treatment. PATIENT CONCERNS: Early diagnosis is important for initiating proper treatment and preventing complications. DIAGNOSES: Two patients were diagnosed as GD in this study. INTERVENTIONS AND OUTCOMES: These 2 patients received the imiglucerase enzyme replacement and symptoms significantly improved by the follow-up. LESSONS: Herein, we report 2 patients with a delayed diagnosis of GD to increase awareness and improve education regarding rare diseases. However, noninvasive ß-glucocerebrosidase activity or GBA gene testing had not been done before bone marrow aspiration, which are the noninvasive and reliable tests that indicate the diagnosis of GD.

A primary amoebic meningoencephalitis case associated with swimming in seawater.

This case report describes a 62-year-old male fisherman who presented with persistent vomiting, headache, and behavior changes. Despite initial antibiotic and corticosteroid treatment, his condition worsened, leading to coma and subsequent death. Macro-genome sequencing of cerebrospinal fluid (CSF) revealed the presence of Naegleria fowleri infection, which had been missed during initial laboratory tests. The patient's exposure history included sea-swimming near Zhoushan Island.