We report a 34-year-old male patient with a novel variant in KMT2D gene, which finally ended a quest for a diagnosis that was clinically suspected in the past, prior the molecular basis of Kabuki Syndrome (KS) was known. The patient showcases the multisystemic features, with involvement of all previously associated with KS body systems, presence of immune deficiency as well as autoimmune disorders, requiring three pancreatic transplants. We also report, for the first time to our knowledge, the presence of epidural lipomatosis and Hodgkin Lymphoma in a patient with KS.

中文翻译：

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外显子组测序证实了患有霍奇金淋巴瘤和异常严重的多系统表型的成人的歌舞uki综合症的诊断。

我们报道了一名34岁的男性患者，该患者在KMT2D基因中有一个新的变异，在知道歌舞uki综合症（KS）的分子基础之前，该研究最终结束了对过去临床怀疑的诊断的寻求。该患者表现出多系统特征，涉及先前与KS身体系统相关的所有疾病，免疫缺陷以及自身免疫疾病的存在，需要进行三例胰腺移植。我们还首次向我们报告了KS患者的硬膜外脂肪瘤病和霍奇金淋巴瘤的存在。