scholarly journals A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature

2018 ◽  
Vol 9 (4) ◽  
pp. 175-181
Author(s):  
Giulia Parmeggiani ◽  
Barbara Buldrini ◽  
Sergio Fini ◽  
Alessandra Ferlini ◽  
Stefania Bigoni
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Language Impairment ◽  
Review Of The Literature

scholarly journals A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

2019 ◽  
Vol 5 (6) ◽  
pp. a003988 ◽  
Author(s):  
Aritoshi Iida ◽  
Kyoko Takano ◽  
Eri Takeshita ◽  
Chihiro Abe-Hatano ◽  
Shinichi Hirabayashi ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Pathogenic Variant ◽  
Review Of The Literature ◽  
Japanese Family

scholarly journals Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Stephanie M. Luco ◽  
Daniela Pohl ◽  
Erick Sell ◽  
Justin D. Wagner ◽  
David A. Dyment ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Review Of The Literature

scholarly journals GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature

2019 ◽  
Vol 10 (4) ◽  
pp. 186-194 ◽  
Author(s):  
Milana Trubnykova ◽  
Jeny Bazalar Montoya ◽  
Jorge La Serna-Infantes ◽  
Flor Vásquez Sotomayor ◽  
María del Carmen Castro Mujica ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Dominant Type ◽  
Autosomal Dominant Type

scholarly journals Case report: Pitt-Hopkins like syndrome with CNTNAP2 mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Sawsan AlBaazi ◽  
Hula Shareef
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Language Impairment ◽  
Brain Mri ◽  
Molecular Karyotyping ◽  
Facial Dysmorphism ◽  
Beta Activity ◽  
Severe Intellectual Disability ◽  
Normal Ranges ◽  
First Case

Abstract Background 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. Case presentation 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. Conclusion 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.

Tuberculous brain abscess: A case report with a review of the literature in English

1999 ◽  
Vol 19 (3) ◽  
pp. 328-335
Author(s):  
Shanop Shuangshoti Shuangshoti ◽  
Samruay Shuangshoti
Keyword(s):  
Case Report ◽  
Brain Abscess ◽  
Review Of The Literature ◽  
Tuberculous Brain Abscess

Abstract #1038: Familial Dysalbuminemic Hyperthyroxinemia: A Case Report and Review of the Literature

2015 ◽  
Vol 21 ◽  
pp. 209-210
Author(s):  
Richa Bhattarai ◽  
Bidur Dhakal ◽  
Joseph Belsky ◽  
Nadja Pedersen ◽  
Maria Jan ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature
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