Delayed Diagnosis of an Attenuated form of Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) via MRI of the Cervical Spinal Cord

Introduction: We present the unexpected findings of a 59-years-old female patient who was admitted for an imaging investigation after the exclusion of rheumatoid arthritis and recurring carpal tunnel syndrome she was operated on both hands several years earlier. Case presentation: Magnetic resonance imaging of the cervical spine revealed severe scoliosis in the cervicothoracic junction with biconcave-shaped vertebrae and dural thickening, especially in the craniocervical junction, leading to compression of the cervical spinal cord. The history of this patient detailed many therapeutic interventions, such as treatment of severe scoliosis during childhood, operations for a bilateral hallux valgus, replacement of the aortic and mitral valves, total hip endoprosthesis on one side and bilateral iridectomy due to glaucoma. She had severe hyperopia and hearing deficits on one side due to recurrent otitis media. Subsequent biochemical tests revealed an increased excretion of urinary glycosaminoglycans, which suggested an attenuated form of mucopolysaccharidosis. Moleculargenetic testing confirmed two combined heterozygous mutations in the ARSB-gene, which is responsible for mucopolysaccharidosis type VI -Maroteaux-Lamy syndrome. The diagnosis was made after the patient retired from working at a challenging full-time job for 41 years. Discussion: The key to the diagnosis was the finding of dural thickening in the craniocervical junction in the presence of severe cervical scoliosis and multiple ovoid-shaped vertebral bodies. The milder forms of mucopolysaccharidosis remain a challenge to diagnose them in adult patients. The confirmed diagnosis allowed the patient to be treated adequately with decompression by laminectomy and enzyme replacement therapy.