CASK相关婴儿痉挛症1例报告并文献复习

CASK-associated infantile spasms:a case report and literature review

目的提高对编码钙/钙调蛋白依赖性丝氨酸蛋白激酶(CASK)相关癫痫性痉挛及相关综合征的认识。方法对确诊为CASK突变伴有婴儿痉挛症(IS)的1例患儿的临床资料进行总结并进行相关文献复习。结果①男患,出生后22d出现顽固性便秘、腹胀,发育落后及惊厥发作。体格检查发现小头畸形、腹胀及肌张力低下。影像学检查提示先天性巨结肠、桥-小脑发育不全。脑电图监测到成串痉挛发作及高度失律。基因结果显示CASK新生半合子突变;②目前报道共有10例CASK突变患儿伴癫痫性痉挛发作,男女各5例,其中7例为婴儿痉挛症,2例为大田原综合征(OS),1例患者不符合癫痫综合征。10例患者均起病早(1 d至3.7岁),以癫痫发作为主要表现,同时伴发育落后、小头畸形及桥-小脑发育不良(PCH)。多数患者均使用至少4种抗癫痫药物治疗,仅1例达到癫痫无发作,1例部分有效。结论伴癫痫性痉挛的CASK突变患者均起病早,预后差,除均伴有脑结构畸形外,患者还可能伴发其他系统畸形,值得关注。

Objective To improve the understanding of CASK-related epileptic spasm and related syndromes.Methods Clinical data of an infant patient with CASK mutation and infantile spasms(IS)were summarized and relevant literature were reviewed.Results①Intractable constipation,abdominal distension,developmental delay and intractable seizures occurred 22 days after birth in a male infant.Physical examination revealed microcephaly,abdominal distension and hypotonia.Hirschsprung's disease and pontine-cerebellar hypoplasia(PCH)were observed through medical imaging examination.Hypsarrhythmia and epileptic spasms in clusters were detected through EEG.The gene results showed a de novo hemizygous mutation in CASK.②Ten cases of CASK mutation with epileptic seizures were reported,equal ratio of the male to the female,including 7 cases with IS and 2 cases with Otahara syndrome(OS).All 10 patients had an early onset(1 day to 3.7 years),epileptic onset was the main manifestation,accompanied by developmental retardation,microcephaly and PCH.Most patients were treated with at least 4 kinds of anti-epileptic drugs,which achieved seizure-free only in 1 case,and were partially effective in 1 case.Conclusion Infants of CASK mutation with epileptic IS all have an early onset and a poor prognosis.In addition to brain structural malformations,the patients with CASK mutation may be also accompanied by systemic malformations,which deserves attention.