Table 1 Epidemiological and clinical features of MPS VII Iberian cohort
Patient | Age at diagnosis/sex | Clinical manifestations | MPS VII treatment |
|---|---|---|---|
1 | 8 years/M | Cognitive delay, coarse face, quadriplegia, chest deviations, thoracic kyphosis | None |
2 | 12 months/F | Clubfoot, hip dysplasia, scoliosis, mild aortic thickening, corneal clouding, respiratory issues | Bone marrow and umbilical cord transplants |
3 | 2 years/M | Coarse face, dysostosis, splenomegaly, macrocephaly, psychomotor delay, hip dysplasia, hernias | Vestronidase |
4 | 14 months/M | Hydrops fetalis, hypospadias, skeletal deformities, scoliosis, hepatic hemangiomas | Vestronidase |
5 | 18 months/M | Hydrops fetalis, breathing issues, cognitive and growth delay, severe scoliosis, mild valvular deficiency | Vestronidase |
6 | 2 years/M | Severe trunk issues, lower limb hyperreflexia, hepatomegaly, hernias, cognitive delay | Vestronidase |
7 | 26 months/F | Hydrops fetalis, hip dysplasia, cognitive delay, ENT issues, spinal deformities, osteoporosis | Vestronidase |
8 | 5 months/M | Dysmorphic signs, hepatomegaly, hernias, developmental delay, heart hypertrophy | None |
9 | 3 months/M | Hepatomegaly, psychomotor delay, epilepsy with focal seizures | Vestronidase |