PDF(Pubmed)
Abstract：
UNASSIGNED: 22q11.2 microdeletion is the most common microdeletion syndrome in humans with a prevalence of 13 per 100 000 live births, and it is a multisystem condition with variable phenotypic presentations.
UNASSIGNED: We present a case of an adult patient with Dandy-Walker syndrome who presented to our epilepsy clinic with 2 years of new-onset seizures and cognitive decline and 1 year of psychotic symptoms.
UNASSIGNED: Patient had a non-revealing autoimmune and malignancy work-up. Continuous scalp vEEG study showed bursts of 1-2 Hz generalized fronto-centrally predominant spike or polyspike and slow wave discharges. Several myoclonic jerks were time-locked with the generalized discharges indicative of cortical myoclonus. MRI brain revealed periventricular nodular heterotopia in addition to findings suggestive of Dandy-Walker syndrome. Array-based comparative genomic hybridization demonstrated a 22q11.2 microdeletion seen in 22q11.2 deletion syndrome.
UNASSIGNED: Our case illustrates the challenges of diagnosing genetic disorders in adults especially when the initial diagnosis is dependent on a number of factors, including the patient\'s age, the severity of the phenotypic features, and the awareness of the physician.
UNASSIGNED: We present a case of an adult patient with Dandy-Walker syndrome who presented to our epilepsy clinic with 2 years of new-onset seizures and cognitive decline and 1 year of psychotic symptoms.
UNASSIGNED: Patient had a non-revealing autoimmune and malignancy work-up. Continuous scalp vEEG study showed bursts of 1-2 Hz generalized fronto-centrally predominant spike or polyspike and slow wave discharges. Several myoclonic jerks were time-locked with the generalized discharges indicative of cortical myoclonus. MRI brain revealed periventricular nodular heterotopia in addition to findings suggestive of Dandy-Walker syndrome. Array-based comparative genomic hybridization demonstrated a 22q11.2 microdeletion seen in 22q11.2 deletion syndrome.
UNASSIGNED: Our case illustrates the challenges of diagnosing genetic disorders in adults especially when the initial diagnosis is dependent on a number of factors, including the patient\'s age, the severity of the phenotypic features, and the awareness of the physician.
摘要：
■22q11.2微缺失是人类中最常见的微缺失综合征，患病率为每100,000例活产13例，它是具有可变表型表现的多系统条件。
■我们介绍了一例患有Dandy-Walker综合征的成年患者，他到我们的癫痫诊所就诊，出现2年的新发作性癫痫发作和认知能力下降以及1年的精神病症状。
■患者有未发现的自身免疫和恶性肿瘤检查。连续的头皮vEEG研究显示，爆发了1-2Hz的广义前中央优势尖峰或多尖峰和慢波放电。几次肌阵挛性抽搐被时间锁定，全身放电表明皮质肌阵挛性。除了提示Dandy-Walker综合征的发现外，MRI脑部还显示脑室周围结节性异位症。基于阵列的比较基因组杂交显示在22q11.2缺失综合征中看到的22q11.2微缺失。
■我们的案例说明了在成人中诊断遗传性疾病的挑战，特别是当初始诊断依赖于多种因素时，包括病人的年龄,表型特征的严重性，和医生的意识。
■我们介绍了一例患有Dandy-Walker综合征的成年患者，他到我们的癫痫诊所就诊，出现2年的新发作性癫痫发作和认知能力下降以及1年的精神病症状。
■患者有未发现的自身免疫和恶性肿瘤检查。连续的头皮vEEG研究显示，爆发了1-2Hz的广义前中央优势尖峰或多尖峰和慢波放电。几次肌阵挛性抽搐被时间锁定，全身放电表明皮质肌阵挛性。除了提示Dandy-Walker综合征的发现外，MRI脑部还显示脑室周围结节性异位症。基于阵列的比较基因组杂交显示在22q11.2缺失综合征中看到的22q11.2微缺失。
■我们的案例说明了在成人中诊断遗传性疾病的挑战，特别是当初始诊断依赖于多种因素时，包括病人的年龄,表型特征的严重性，和医生的意识。
