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KMID : 0387820230300020099
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Clinical Pediatric Hematology-Oncology
2023 Volume.30 No. 2 p.99 ~ p.102
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Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus
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Jeong Da-Ro
Lee Jung-Hyun
Kong Seom-Gim
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Abstract
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Loeys-Dietz syndrome is a hereditary connective-tissue disorder first reported in 2005. It is caused by genetic defects in the transforming growth factor-beta (TGF-β) signaling pathway. TGF-β signaling plays an important role in connective-tissue de-velopment, differentiation, and homeostasis. Dysregulation of TGF-β signaling causes various defects in the skull, face, skeletal system, skin, and blood vessels. Symptoms of Loeys-Dietz syndrome include scoliosis, spider finger, joint laxity, club foot, hy-pertelorism, and cleft palate. In addition, aortic aneurysm, aortic dissection, bleeding tendency, delayed wound healing, allergic disease, and autoimmune disease have been reported. Here, we describe an 11-year-old male with type 1 diabetes mellitus who had frequent epistaxis and easy bruising from an early age, along with skin and joint hyperextension, atrophic scars, and long limbs. He was suspected of having a hereditary connective-tissue disorder and was diagnosed with Loeys-Dietz syndrome type 1 by next-generation sequencing. Similar to Marfan syndrome and Ehlers-Danlos syndrome, this disease has a high risk of aortic aneurysm and aortic dissection. In addition, because aortic dissection can occur at a young age, early diagnosis and periodic examination and treatment for cardiovascular diseases are necessary.
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KEYWORD
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Loeys-Dietz syndrome, Receptor, Transforming growth factor-beta type I, Connective tissue diseases, Diabetes mellitus, Type 1
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