# Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report

## TL;DR

This case report describes a rare genetic disorder in an infant, highlighting its physical and imaging features.

## Contribution

The paper presents a detailed clinical and radiological case of infantile GM1 gangliosidosis, emphasizing diagnostic imaging findings.

## Key findings

- The patient showed abnormal body movements, coarse facial features, and dermal melanocytosis.
- Imaging revealed hyperdense thalami and impaired myelination in white matter.
- Reduced β-galactosidase enzyme activity confirmed the diagnosis.

## Abstract

Mono-sialo-tetra-hexosylganglioside, also known as infantile GM1 gangliosidosis, is an autosomal recessive lysosomal storage disorder caused by a mutation in the GLB1 gene that stops the β-galactosidase enzyme from working. We have discussed a case of infantile GM1 gangliosidosis which presented with abnormal body movements, extensive dermal melanocytosis over back and gluteal region, coarse facial features, and macrocephaly. Radiological features included antero-inferior beaking of second, third, and fourth lumbar vertebrae, bilateral hyperdense thalami on non-contrast CT. On T2-weighted images, there is a persistently high signal intensity of the white matter and subcortical U fibres, which indicates bilateral bulky thalami with T2 hypointense and significantly impaired myelination. Reduced β-galactosidase activity verified the diagnosis.