Abstract
Radiological Diagnosis of a Neonate with Mucolipidosis II (I-Cell Disease)
Highlights
Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) (OMIM 252500) is an autosomal recessive lysosomal enzyme targeting disorder
Stippling calcifications are seen in bilateral tarsal and sacrococcygeal regions
When ML II is severe enough to be detected in the newborn period, the radiological changes have been described as similar to multiple pathological fractures of osteogenesis imperfecta [1], or rickets because of transient neonatal hyperparathyroidism [2]
Summary
Panel A: A lower extremities radiograph showing bending femora and tibiae by pathological fractures and remodeling. Primitive and fibrillar with poor differentiation between the cortical and medullary zones. Metaphyses of these bones are frayed and expanded. Stippling calcifications are seen in bilateral tarsal and sacrococcygeal regions (yellow arrow heads). Panel B: A right humerus radiograph showing cloaked appearance (bone within a sleeve of bone). Panel C: Peripheral blood lymphocytes of the patients have vacuole-like inclusions (May-Giemsa staining, original magnification, ×1,000). Panel D: Cytoplasmic inclusions (I-cell phenotype) in cultured skin fibroblasts (Phase-contrast microscopy, original magnification, ×100)
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