Cabrera J C, Martí M, Toledo L, Giné R, Vázquez C
Sección de Neuropediatria, Hospital Materno-Infantil de Las Palmas de Gran Canaria, España.
Rev Neurol. 1998 Jan;26(149):77-9.
We describe a five year old boy with inversion duplication of chromosome 15 (inv dup (15)) who, at the age of six months had started to develop West's syndrome. He later developed cryptogenic myoclonic epilepsy which was resistant to medication. On examination there was dysmorphia, overall hypotonia and diffuse pyramidalism. On starting ACTH the crises of flexion spasms were reduced but these were soon followed by myoclonic crises, both tonic and atonic, which did not respond to the various anticonvulsive treatments given. We comment on the changes in chromosome 15 linked to convulsions, and particularly the phenotypes of the inv dup (15) which depend on the size and genetic composition of the anomaly. This is the third case described in the literature of a patient with West's syndrome associated with supernumerary inversion duplication of chromosome 15. It is suggested that the karyotype be included when studying convulsive encephalopathies and cryptogenic refractory epilepsy, especially in infantile spasms.
我们描述了一名患有15号染色体倒位重复（inv dup (15)）的5岁男孩，他在6个月大时开始患上韦斯特综合征。他后来发展为隐源性肌阵挛性癫痫，对药物治疗耐药。检查发现有畸形、全身肌张力减退和弥漫性锥体束征。开始使用促肾上腺皮质激素（ACTH）后，屈曲痉挛发作减少，但随后很快出现肌阵挛发作，包括强直性和无张力性发作，对给予的各种抗惊厥治疗均无反应。我们评论了与惊厥相关的15号染色体变化，特别是inv dup (15)的表型，其取决于异常的大小和基因组成。这是文献中描述的第三例患有韦斯特综合征且伴有15号染色体额外倒位重复的患者。建议在研究惊厥性脑病和隐源性难治性癫痫时，尤其是婴儿痉挛症时，应进行核型分析。
