Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders

Area of Science:

• Biochemistry
• Genetics
• Radiology

Background:

• Lysosomal storage diseases (LSDs) are genetic metabolic disorders characterized by the intracellular accumulation of abnormal materials.
• Many LSDs present in infancy or early childhood, necessitating prompt diagnosis to prevent severe complications and mortality.

Purpose of the Study:

• To review and correlate the key imaging features of non-lipid or extralipid LSDs with clinical manifestations and genetic data.
• To highlight similarities and differences in radiological findings among various LSDs to improve recognition.

Main Methods:

• Review of imaging features for specific extralipid LSDs.
• Stratification of disorders based on accumulated material (mucopolysaccharides, glycoproteins, etc.).
• Correlation of imaging findings with clinical and genetic information.

Main Results:

• Detailed examination of imaging characteristics for mucopolysaccharidoses, mucolipidoses, alpha-mannosidosis, glycogen storage disorder II, and cystinosis.
• Identification of distinguishing radiological findings for each LSD.
• Comparison of imaging similarities and differences across these disorders.

Conclusions:

• Radiologists can play a vital role in the early diagnosis of LSDs by understanding their distinct imaging characteristics.
• Correlating imaging findings with clinical and genetic data aids in differentiating between various LSDs.
• Early diagnosis through advanced imaging interpretation is essential for managing these progressive and potentially fatal genetic disorders.