Radiological Diagnosis of a Neonate with Mucolipidosis II (I-Cell Disease)

Abstract

Panel A: A lower extremities radiograph showing bending femora and tibiae by pathological fractures and remodeling. Bone trabeculae are irregular, 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).