Abstract
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. We report on a child, who presented with spasticity, multisystem inflammation, autoimmunity and immunodeficiency with minimal metaphyseal changes due to compound heterozygosity for two novel ACP5 mutations. These findings extend the phenotypic spectrum of SPENCD and indicate that ACP5 mutations can cause severe immune dysregulation and neurological impairment even in the absence of metaphyseal dysplasia.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Acid Phosphatase / genetics*
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Autoimmune Diseases / complications*
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Autoimmune Diseases / genetics*
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Autoimmunity
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Bone Diseases / complications
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Child
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Female
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Humans
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Immunologic Deficiency Syndromes / complications
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Inflammation / complications
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Isoenzymes / genetics*
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Magnetic Resonance Imaging
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Muscle Spasticity / complications
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Mutation
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Osteochondrodysplasias / complications*
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Osteochondrodysplasias / genetics*
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Tartrate-Resistant Acid Phosphatase
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Tomography, X-Ray Computed
Substances
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Isoenzymes
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ACP5 protein, human
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Acid Phosphatase
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Tartrate-Resistant Acid Phosphatase
Supplementary concepts
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Spondyloenchondrodysplasia