Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology.

ABSTRACT:

Introduction

S-Adenosylhomocysteine hydrolase deficiency (SAHHD) is a rare inherited multisystemic disease with muscle involvement as one of the most prominent and poorly understood features. To get better insight into muscle involvement, skeletal muscles were analyzed by magnetic resonance imaging (MRI) and MR spectroscopy (MRS) in three brothers with SAHHD in the different age group.

Method

The study was based on analysis of MRI and MRS of skeletal muscles of the lower and the proximal muscle groups of the upper extremities in three SAHHD patients.

Results

Three siblings presented in early infancy with similar signs and symptoms, including motor developmental delay. All manifested myopathy, more pronounced in the lower extremities and the proximal skeletal muscle gr

SUBMITTER: Petkovic Ramadza D 

PROVIDER: S-EPMC9026168 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature