RESUMO
Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive disorder of impaired triacylglycerol catabolism leading to cytoplasmic deposition of triglycerides in various cell types. We describe the case of an 8-month-old boy with cataracts, strabismus, motor delays, and an ichthyosiform rash since birth. Genetic testing revealed a pathogenic variant of the ABHD5 gene, suggestive of CDS, and further workup demonstrated hepatic steatosis and myopathy. His ichthyosis improved with initiation of a diet low in very long-chain fatty acids and medium-chain fatty acid supplementation.
Assuntos
Catarata , Eritrodermia Ictiosiforme Congênita , Ictiose Lamelar , Ictiose , Erros Inatos do Metabolismo Lipídico , Doenças Musculares , Masculino , Humanos , Lactente , Eritrodermia Ictiosiforme Congênita/diagnóstico , Eritrodermia Ictiosiforme Congênita/genética , Ictiose Lamelar/diagnóstico , Ictiose Lamelar/genética , Ictiose/diagnóstico , Ictiose/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Doenças Musculares/patologia , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/patologia , Catarata/diagnóstico , 1-Acilglicerol-3-Fosfato O-Aciltransferase/genéticaRESUMO
Eosinophilic fasciitis (EF) is a rare condition in children that is typically treated with systemic corticosteroids. We present the case of a 9-year-old boy with biopsy-proven EF, refractory to systemic corticosteroids and methotrexate. The tyrosine kinase inhibitor imatinib was added as adjuvant therapy, leading to improvement in joint function and skin laxity. Our case is the first to suggest the anti-fibrotic properties of imatinib may benefit EF patients.