Monif Mastura, Huq Aamira, Chee Lynette, Kilpatrick Trevor
Department of Neurology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Department of Physiology, University of Melbourne Faculty of Medicine, Melbourne, Victoria, Australia.
BMJ Case Rep. 2018 Apr 21;2018:bcr-2017-222872. doi: 10.1136/bcr-2017-222872.
We present a case of monocytopaenia and mycobacteria-related infection (MonoMac) syndrome in a 30-year-old man of Indian origin. The clinical diagnosis of haploinsufficiency was suspected after an unusual neurological presentation on a background of myelodysplastic syndrome and childhood pulmonary tuberculosis. The patient had a longitudinally extensive spinal cord lesion and a lesion in the medulla. No obvious infective cause for the spinal cord MRI abnormality was found, and the lesions were presumed to be inflammatory in nature. The family history consisted of autosomal dominant clinical features suggestive of haploinsufficiency. Genetic testing in peripheral leucocytes revealed a pathogenic mutation in This is the first-ever published case of possible MonoMac syndrome with a neurological presentation. The case highlights the rarity and complexity of the diagnosis and the clinical sequelae that ensued with the patient dying of gram-negative septicaemia while receiving intravenous steroid therapy for the spinal cord lesion.
我们报告一例30岁印度裔男性的单核细胞减少症和分枝杆菌相关感染（MonoMac）综合征。该患者有骨髓增生异常综合征背景及儿童期肺结核病史，出现异常神经系统表现后，临床怀疑单倍剂量不足。患者脊髓有纵向广泛病变及延髓病变。脊髓MRI异常未发现明显感染原因，推测病变本质为炎症性。家族史有提示单倍剂量不足的常染色体显性临床特征。外周血白细胞基因检测发现致病突变。这是首例有神经系统表现的可能的MonoMac综合征病例报道。该病例凸显了诊断的罕见性和复杂性，以及临床后果，即患者在接受脊髓病变静脉类固醇治疗时死于革兰阴性菌败血症。
