Abstract
Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.
Highlights
Morquio syndrome is a rare autosomal recessive lysosomal storage disease referred to as mucopolysaccharidosis (MPS) type IV, which is further divided into IVA and IVB subtypes depending on the enzyme deficiency
Type IVA is caused by the deficiency of enzyme N-acetyl-galactosamine-6-sulfatase causing intracellular accumulation of keratan sulfate and chondroitin 6-sulfate whereas type IVB is caused by β-galactosidase deficiency causing accumulation of keratan sulfate only.[1]
We present a case of metastatic gastric adenocarcinoma arising in a man with Morquio syndrome, which was diagnosed in early childhood and presented the typical findings of this syndrome at the end of life
Summary
Morquio syndrome is a rare autosomal recessive lysosomal storage disease referred to as mucopolysaccharidosis (MPS) type IV, which is further divided into IVA and IVB subtypes depending on the enzyme deficiency. Atlantoaxial subluxation leading to spinal cord compression in the upper cervical region can be life threatening. This subluxation is a consequence of odontoid dysplasia, which is a major complication of MPS type IV.[2] The manifestations that can develop later in the life include corneal opacity, deafness, hypermobility of joints, cardiac abnormalities, quadriplegia and respiratory paralysis.[3] Morquio syndrome has rarely been associated with carcinomas or other malignancies. We present a case of metastatic gastric adenocarcinoma arising in a man with Morquio syndrome, which was diagnosed in early childhood and presented the typical findings of this syndrome at the end of life
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