Clinical manifestations and MRI features of Danon disease: a case series.

ABSTRACT:

Background

Danon disease (DD) is an exceptionally uncommon X-linked dominant lysosomal glycogen storage disorder characterized by pronounced ventricular hypertrophy and cardiac insufficiency. The timely identification of cardiac impairment in individuals with DD holds significant clinical importance.

Case presentation

We present a case of Danon Disease in a three-generation pedigree from Anhui Province, China. Clinical features and laboratory data were collected and analyzed for a 16-year-old male proband (III-1) and two affected female family members (II-2 and II-3). The proband exhibited Wolf-Parkinson-White syndrome, hypertrophic cardiomyopathy, abnormal cognitive function, and muscle weakness. Gene sequencing confirmed a mutation (c.963G > A) in the LAMP-2 gene.

Concl

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC10422726 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature