Pitt-Hopkins syndrome (PHS) is a rare cause of severe intellectual disability, seizures, language impairment, and peculiar facial dysmorphism. It is caused by a mutation in transcription factor 4 (TCF4). Through molecular karyotyping and mutational analysis, a study identified recessive defects in two genes, contactin associated protein like 2 (CNTNAP2) and Neurexin I (NRXN1), in patients with similar presentations of Pitt-Hopkins syndrome and called Pitt-Hopkins-like syndrome (Zweier et al., J Med Genet 80: 994-1001, 2007). We present the first case report of a child in Iraq with Pitt-Hopkins-like syndrome that was referred to the Welfare Children’s Hospital/Medical City of Baghdad because of her intellectual disability. The patient was 4-year-old female child who presented with psychomotor delay and language impairment. She had frequent attacks of the respiratory tract and eye infections. Ophthalmologic examination revealed left-sided esotropia and severe myopia. Routine hematologic, serologic, and chemistry tests were within normal ranges. EEG revealed diffuse theta slowing and diffuse beta activity. The audiological test was normal. NCS and EMG showed normal results. Echo study, chest X-ray, and abdominal/pelvic ultrasound revealed normal findings. Brain MRI showed mild bilateral frontal-temporal atrophy. Whole-exome sequencing (WES) revealed a homozygous stop mutation in CNTNAP2 with a heterozygous state in both parents. Intellectual disability may result from different types of abnormal cellular processes and with widening the use of molecular gene analysis in cases of intellectual disability, underdiagnosed cases of Pitt-Hopkins and Pitt-Hopkins-like syndromes may be uncovered.

中文翻译：

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病例报告：Pitt-Hopkins 样综合征伴 CNTNAP2 突变

皮特霍普金斯综合征 (PHS) 是一种罕见的导致严重智力障碍、癫痫、语言障碍和特殊面部畸形的原因。它是由转录因子 4 (TCF4) 的突变引起的。通过分子核型分析和突变分析，一项研究确定了两种基因的隐性缺陷，即接触相关蛋白 2 (CNTNAP2) 和 Neurexin I (NRXN1)，在具有类似 Pitt-Hopkins 综合征表现并称为 Pitt-Hopkins 样综合征的患者中。 Zweier 等，J Med Genet 80：994-1001，2007)。我们展示了伊拉克第一个患有皮特霍普金斯样综合征的儿童的病例报告，该儿童因智力残疾被转诊至儿童福利医院/巴格达医疗城。患者为 4 岁女童，表现为精神运动迟缓和语言障碍。她经常出现呼吸道和眼部感染。眼科检查显示左侧内斜视和严重近视。常规血液学、血清学和化学检查均在正常范围内。脑电图显示弥漫性θ减慢和弥漫性β活动。听力测试正常。NCS 和 EMG 显示正常结果。回声检查、胸部 X 光检查和腹部/盆腔超声检查显示正常结果。脑部MRI显示轻度双侧额颞萎缩。全外显子组测序 (WES) 显示 CNTNAP2 中存在纯合终止突变，父母双方均处于杂合状态。智力残疾可能是由于不同类型的异常细胞过程以及在智力残疾情况下分子基因分析的广泛使用而导致的，