Unusual Form of Obstructive Hydrocephalus in Association with 6q Terminal Deletion Syndrome: A Case Report and Literature Review

2019 ◽  
Vol 54 (6) ◽  
pp. 419-423 ◽  
Author(s):  
Hirofumi Iwamoto ◽  
Ai Muroi ◽  
Tomokazu Sekine ◽  
Takao Tsurubuchi ◽  
Eiichi Ishikawa ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Obstructive Hydrocephalus ◽  
Terminal Deletion ◽  
Deletion Syndrome ◽  
Unusual Form

scholarly journals Terminal Deletion of Chromosome 15q26.1: Case Report and Brief Literature Review

2005 ◽  
Vol 25 (6) ◽  
pp. 429-432 ◽  
Author(s):  
Kushal Y Bhakta ◽  
Sarah J Marlin ◽  
Joseph J Shen ◽  
Caraciolo J Fernandes
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Terminal Deletion

P108 Acetazolamide for obstructive hydrocephalus in the pregnant female: a case report and literature review.

2019 ◽  
Vol 90 (3) ◽  
pp. e50.3-e50
Author(s):  
EL Strachan ◽  
K Tsang
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Randomised Controlled Trials ◽  
Obstructive Hydrocephalus ◽  
Pregnant Patient ◽  
Database Search ◽  
Cerebrospinal Fluid Flow ◽  
Pubmed Database ◽  
Neurosurgical Patient ◽  
Randomised Controlled

ObjectivesThis study presents a case report and literature review of acetazolamide use in the pregnant patient to further delineate its role and controversies in the treatment of symptomatic hydrocephalus. Here we present a case from our neurosurgical service which demonstrated safe use and efficacy of acetazolamide in refractory hydrocephalus secondary to a space-occupying lesion.DesignCase report and literature review.Subjects33-year-old, primigravid female treated at Charing Cross Hospital, London.MethodsAdaptation of the PRISMA guideline to facilitate an initial PubMed database search for all available full-text, peer-reviewed publications in English. Papers were screened for relevance to pregnant patients with hydrocephalus receiving acetazolamide therapy, as well as relevant papers describing related disorders of cerebrospinal fluid flow.ResultsThere exist no prospective, randomised-controlled trials for the use of acetazolamide to treat hydrocephalus in pregnancy. Retrospective data in patients with related conditions suggest no significant link between acetazolamide use and teratogenicity in humans.ConclusionsAcetazolamide can be a safe and efficacious therapy in the pregnant patient with refractory hydrocephalus as a bridge to delivery. We agree with the consensus and its appropriate use in the pregnant neurosurgical patient.

scholarly journals Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion

2021 ◽  
Vol 12 ◽  
Author(s):  
Liang-Liang Fan ◽  
Yue Sheng ◽  
Chen-Yu Wang ◽  
Ya-Li Li ◽  
Ji-Shi Liu
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Candidate Genes ◽  
De Novo ◽  
Chromosome Region ◽  
Single Nucleotide Polymorphism Array ◽  
Chinese Patient ◽  
Terminal Deletion ◽  
Deletion Syndrome

7q terminal deletion syndrome is a rare condition presenting with multiple congenital malformations, including abnormal brain and facial structures, developmental delay, intellectual disability, abnormal limbs, and sacral anomalies. At least 40 OMIM genes located in the 7q34-7q36.3 region act as candidate genes for these phenotypes, of which SHH, EN2, KCNH2, RHEB, HLXB9, EZH2, MNX1 and LIMR1 may be the most important. In this study, we discuss the case of a 2.5-year-old male patient with multiple malformations, congenital brain dysplasia, developmental delay, and intellectual disability. A high-resolution genome-wide single nucleotide polymorphism array and real-time polymerase chain reaction were performed to detect genetic lesions. A de novo 9.4 Mb deletion in chromosome region 7q35-7q36.3 (chr7:147,493,985–156,774,460) was found. This chromosome region contains 68 genes, some of which are candidate genes for each phenotype. To the best of our knowledge, this is a rare case report of 7q terminal deletion syndrome in a Chinese patient. Our study identifies a rare phenotype in terms of brain structure abnormalities and cerebellar sulcus widening in patients with deletion in 7q35-7q36.3.

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