Neilson D E, Eiben R M, Waniewski S, Hoppel C L, Varnes M E, Bangert B A, Wiznitzer M, Warman M L, Kerr D S
Department of Pediatrics, University Hospitals of Cleveland, and Case Western Reserve University, Cleveland, OH, USA.
Neurology. 2003 Jul 22;61(2):226-30. doi: 10.1212/01.wnl.0000073544.28775.1a.
To define the clinical and biochemical abnormalities of an autosomal dominant form of acute encephalopathy.
The clinical details of 11 affected family members in comparison with 63 unaffected relatives were analyzed.
Affected children become comatose after onset of a febrile illness. Outcomes include full recovery, permanent neurologic impairment, and death. Recurrences produce more severe impairments. Lesions of necrotizing encephalopathy of the thalamus and brainstem are present on autopsy and MRI. Oxidative phosphorylation of intact mitochondria from a muscle biopsy shows loose coupling. Unaffected family members, including obligate carriers, share no clinical characteristics, demonstrating incomplete penetrance.
Characteristic pathology and MRI findings define this disorder of autosomal dominant acute encephalopathy. Leigh syndrome and sporadic acute necrotizing encephalopathy share similarities but are distinct.
明确常染色体显性遗传型急性脑病的临床及生化异常表现。
分析了11名患病家庭成员以及63名未患病亲属的临床细节。
患病儿童在发热性疾病发作后会陷入昏迷。结局包括完全康复、永久性神经功能损害及死亡。复发会导致更严重的损害。尸检及磁共振成像（MRI）显示丘脑和脑干存在坏死性脑病病变。肌肉活检中完整线粒体的氧化磷酸化显示偶联松弛。未患病家庭成员，包括必然携带者，无共同临床特征，表明存在不完全外显率。
特征性病理学及MRI表现可明确这种常染色体显性遗传急性脑病疾病。 Leigh综合征与散发性急性坏死性脑病有相似之处，但又有所不同。
