Prenatal pathology in mucopolysaccharidoses: a comparison with postnatal cases

Area of Science:

• Biochemistry
• Genetics
• Pathology

Background:

• Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders.
• Characterized by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan degradation.
• Accumulation of glycosaminoglycans leads to progressive cellular damage and multisystemic manifestations.

Purpose of the Study:

• To investigate the early morphologic changes in fetal mucopolysaccharidoses.
• To compare fetal MPS findings with postnatal cases and age-matched controls.
• To evaluate the utility of electron microscopy in diagnosing fetal MPS.

Main Methods:

• Morphologic analysis of four fetal MPS cases (MPS I H, MPS II, MPS III A).
• Comparison with six postnatal MPS cases and age-matched controls.
• Standard electron microscopic techniques applied to nervous system and visceral organs.

Main Results:

• Prenatal MPS cases exhibit significant morphologic alterations at early fetal stages.
• Intraneuronal storage is notably more severe in mature neurons (e.g., anterior horn cells, spinal ganglionic, myenteric neurons).
• Morphologic techniques could not differentiate between fetal MPS types or distinguish them from postnatal MPS I, II, and III.

Conclusions:

• Mucopolysaccharidoses affect fetuses early in development.
• Neuronal maturity influences the severity of intraneuronal storage in fetal MPS.
• Current morphologic methods are insufficient for individualizing fetal MPS subtypes.