Yesilbas Osman, Sengenc Esma, Olbak Melike Ersoy, Bako Derya, Nizam Oznur Gokce, Seyithanoglu Mehmet Hakan, Pehlivan Davut, Ceylaner Serdar, Icagasioglu Dilara, Aydin Kursad
Karadeniz Technical University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Critical Care Medicine, Trabzon, Turkey.
Turk Neurosurg. 2022;32(1):155-159. doi: 10.5137/1019-5149.JTN.34196-21.4.
Mitochondrial encephalomyopathy, lactic acidosis, and recurrent stroke-like episodes (MELAS) syndrome is a rare but one of the most common maternally inherited multisystem disorder. Although patients with MELAS present a variable clinical profile, strokelike lesions have been detected in 90% of cases, with stroke being the first presenting symptom in 25% of cases. However, cases of local brain edema requiring decompressive craniectomy has not been reported. A 12-year-old male patient was admitted to our pediatric intensive care unit with altered mental status, seizures, and vision loss. The patient was stuporous and presented neck stiffness. Complete blood count, serum electrolytes, biochemistry (including lactate level), acute phase reactants, and repeated blood gas analysis were unremarkable. Brain magnetic resonance imaging (MRI) revealed an edematous stroke-like lesion in the right occipital lobe accompanied by brain swelling. Intravenous ceftriaxone, acyclovir, intravenous immunoglobulin (IVIG), and pulse steroid therapy were started for possible diagnosis of viral/bacterial/autoimmune encephalitis; levetiracetam, phenytoin, and an infusion of sodium thiopental were started for refractory status epilepticus; and a 3% NaCl infusion was started for local brain edema. The results of serum autoimmune encephalitis panel were negative. Further investigations for rheumatic, vascular, and metabolic disorders were unremarkable. Despite these supportive treatments, the patient was clinically decompensated due to brain swelling that progressed to the left midline shift, and he underwent decompressive craniectomy. Histologic examination of brain biopsy specimen revealed non-specific encephalitis findings. A pathogenic variant of the MT-TL1 gene (m.3243A > T), responsible for MELAS, was detected. The patient?s condition dramatically improved after specific treatment for MELAS. If the diagnosis and treatment are delayed, MELAS syndrome can cause serious brain edema, which may ultimately require decompressive craniectomy.
线粒体脑肌病伴乳酸酸中毒及卒中样发作（MELAS）综合征是一种罕见但最常见的母系遗传多系统疾病之一。尽管MELAS患者临床表现各异，但90%的病例检测到有卒中样病灶，25%的病例以卒中为首发症状。然而，尚未有需要行减压颅骨切除术治疗局部脑水肿的病例报道。一名12岁男性患者因精神状态改变、癫痫发作和视力丧失入住我院儿科重症监护病房。患者昏迷，伴有颈部僵硬。血常规、血清电解质、生化检查（包括乳酸水平）、急性期反应物及多次血气分析均无异常。脑磁共振成像（MRI）显示右枕叶有一个水肿性卒中样病灶，并伴有脑肿胀。开始静脉应用头孢曲松、阿昔洛韦、静脉注射免疫球蛋白（IVIG）及冲击性类固醇治疗，以排查可能的病毒/细菌/自身免疫性脑炎；开始应用左乙拉西坦、苯妥英钠及硫喷妥钠静脉输注治疗难治性癫痫持续状态；开始输注3%氯化钠治疗局部脑水肿。血清自身免疫性脑炎相关检查结果为阴性。对风湿性、血管性及代谢性疾病的进一步检查均无异常。尽管采取了这些支持性治疗措施，但患者因脑肿胀进展至左侧中线移位而出现临床失代偿，遂接受了减压颅骨切除术。脑活检标本的组织学检查显示为非特异性脑炎表现。检测到导致MELAS的MT-TL1基因的一个致病变异（m.3243A>T）。对MELAS进行特异性治疗后，患者病情显著改善。如果诊断和治疗延迟，MELAS综合征可导致严重脑水肿，最终可能需要行减压颅骨切除术。
