Publications by authors named "Masanori Miyaishi"
A previously healthy 18-month-old boy presented with hepatomegaly, accompanied by liver injury. Imaging and liver biopsy findings suggested a hepatic glycogen storage disease (GSD) but not GSD type I. Genetic testing revealed a partial deletion of the PHKA2 gene, confirming the diagnosis of GSD type IXa.
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- Juvenile xanthogranuloma (JXG) is a rare benign condition primarily affecting neonates and young children, often presenting as skin lesions, but intramuscular JXG is much less common, accounting for only 0.6% of cases.
- A case involving a 5-month-old girl showed a slow-growing lump in her left thigh, which was diagnosed as deep JXG after imaging, biopsy, and surgical resection.
- Histological findings revealed characteristics typical of JXG, and despite initial concerns about tumor margins, the patient has shown no signs of recurrence over 48 months post-surgery, highlighting the importance of proper diagnosis and monitoring.