A second reported malignancy in a patient with Morquio syndrome

Area of Science:

• Medical Genetics
• Oncology
• Rare Diseases

Background:

• Morquio syndrome is a rare autosomal recessive lysosomal storage disorder affecting multiple organ systems.
• Malignancy is an infrequent complication of Morquio syndrome.
• Gastrointestinal cancers are not typically associated with Morquio syndrome.

Purpose of the Study:

• To report a rare case of Morquio syndrome associated with gastric adenocarcinoma.
• To document previously undescribed findings in a patient with Morquio syndrome: brainstem-cerebellar malrotation and persistent fetal lobulation of the kidneys.

Main Methods:

• Case report presentation.
• Review of patient's medical history and diagnostic findings.
• Literature review for similar cases.

Main Results:

• A 30-year-old male with Morquio syndrome was diagnosed with gastric adenocarcinoma.
• The patient exhibited brainstem and cerebellar malrotation without neurological deficits.
• Renal persistent fetal lobulation was observed in the patient.

Conclusions:

• This case highlights an unusual association between Morquio syndrome and gastric adenocarcinoma.
• The co-occurrence of central nervous system malformation and renal anomaly in Morquio syndrome is novel.
• Further research is needed to understand the potential link between Morquio syndrome and increased cancer risk.