Musculoskeletal/Radiological Manifestations of Mucolipidosis II (I-Cell disease) in late Adolescence/Early Adulthood

Mucolipidosis type II (I-Cell disease) is a rare autosomal recessive lysosomal disorder, resulting from functional deficiency of lysosomal enzymes due to an impaired targeting of the enzymes to lysosomes, which leads to an abnormal cell architecture and the overflow of lysosomal enzymes into the body fluids. The life expectancy of the patients is poor, with multisystem deterioration leading to death in early childhood. According to the available reports, patients with I-cell disease do not survive beyond the first decade of life. Here, we describe and illustrate various radiological-musculoskeletal manifestations of a rare case of mucolipidosis II who has been a survivor up to now, 20 years old. The course of her disease has been complicated by early severe visual compromise due to optic nerve swelling, hearing loss and mitral valve regurgitation/stenosis, bilateral carpal tunnel, and severe growth impairment. Our case demonstrates several skeletal features of dysostosis multiplex. At the age of 20, she is wheelchair bound and her medical course is complicated by recurrent pneumonia, treated with multiple hospitalizations, antibiotics, and BiPAP. She is on outpatient palliative care, Do Not Resuscitate/Do Not Intubate (DNR/DNI) status.