scholarly journals Dandy-Walker malformation in methylmalonic acidemia: a rare case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jingwei Liu ◽  
Zhuohang Liu ◽  
Haibo Yan ◽  
Yumei Li
Keyword(s):  
Clinical Manifestations ◽  
Methylmalonic Acidemia ◽  
Case Presentation ◽  
Metabolism Disorder ◽  
Dandy Walker Malformation ◽  
Organic Acid Metabolism ◽  
Rare Case Report ◽  
Metabolic Screening ◽  
Walker Malformation ◽  
Heat Preservation

Abstract Background Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations. Case presentation A 3-month-old female infant was admitted to the hospital for developmental retardation. Her prenatal and birth history was unremarkable. After admission, she developed dyspnea and severe anemia and was subsequently transferred to the intensive care unit. Magnetic resonance imaging of her brain showed a Dandy-Walker malformation, and metabolic screening indicated methylmalonic acidemia. Thus, she was diagnosed with methylmalonic acidemia and Dandy-Walker malformation. The patient underwent treatment including acidosis correction, blood transfusion, antibiotics, mechanical ventilation and heat preservation. Unfortunately, her condition progressively worsened and she died of metabolic crisis. Conclusions Dandy-Walker malformation may be a clinical manifestation of methylmalonic acidemia. Additionally, the co-existence of methylmalonic acidemia and Dandy-Walker malformation may be an uncharacterized syndrome which needs to be studied further.

scholarly journals Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Huakun Shangguan ◽  
Chang Su ◽  
Qian Ouyang ◽  
Bingyan Cao ◽  
Jian Wang ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Facial Dysmorphism ◽  
Kabuki Syndrome ◽  
Brain Abnormalities ◽  
Genetic Sequencing ◽  
Pathogenic Variants ◽  
Dandy Walker Malformation ◽  
Whole Exome ◽  
Novel Variants ◽  
Walker Malformation

Abstract Objective This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients. Methods Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 40 previously published unrelated Chinese KS patients were summarized. Result Genetic sequencing identified six KMT2D variants (c.3926delC, c.5845delC, c.6595delT, c.12630delG, c.16294C > T, and c.16442delG) and one KDM6A variant (c.2668-2671del). Of them, 4 variants (c.3926delC, c.5845delC, c.12630delG, and c.16442delG) in KMT2D gene and the variant (c.2668-2671del) in KDM6A gene were novel. Combining with previously published Chinese KS cases, the patients presented with five cardinal manifestations including facial dysmorphism, intellectual disability, growth retardation, fingertip pads and skeletal abnormalities. In addition, 29.5% (5/17) patients had brain abnormalities, such as hydrocephalus, cerebellar vermis dysplasia, thin pituitary and white matter myelination delay, corpus callosum hypoplasia and Dandy-Walker malformation. Conclusion In this report, five novel variants in KMT2D/KDM6A genes are described. A subset of Chinese KS patients presented with brain abnormalities that were not previously reported. Our study expands the mutational and phenotypic spectra of KS.

DANDY WALKER MALFORMATION: A RARE CASE REPORT

2021 ◽  
pp. 71-72
Author(s):  
Triza Kumar Lakshman ◽  
Yeshwanthini J ◽  
Ravindra S Pukale
Keyword(s):  
Case Report ◽  
Posterior Fossa ◽  
Fourth Ventricle ◽  
Rare Case ◽  
Male Fetus ◽  
Dandy Walker Malformation ◽  
Rare Case Report ◽  
Upward Displacement ◽  
Walker Malformation ◽  
Posterior Fossa Malformation

Dandy-Walker malformation (DWM) or syndrome is a posterior fossa anomaly characterized by agenesis or hypoplasia of the vermis and cystic enlargement of the fourth ventricle causing upward displacement of tentorium and torcula. Most patients have hydrocephalus at the time of diagnosis. DMW is the most common posterior fossa malformation, and it typically occurs sporadically. This is a case report of male fetus that was diagnosed to have Dandy Walker Malformation during the antenatal obstetric scans.

Dandy-Walker malformation with meningioma and lissencephaly: A rare case report

2015 ◽  
Vol 3 (1) ◽  
pp. 180
Author(s):  
Saryu Sain ◽  
Shrish Patil ◽  
S Vijaykumar ◽  
M Gurushanthaiah ◽  
G Mahesh
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Dandy Walker Malformation ◽  
Rare Case Report ◽  
Walker Malformation

scholarly journals Neurocutaneous melanosis with Dandy-Walker malformation: A rare case report

2016 ◽  
Vol 5 (1) ◽  
pp. 63
Author(s):  
Sandeep Velicheti ◽  
SonylalErwin Palaparthy ◽  
Rabiya Nelofer ◽  
Ashirwad Pasumarthy
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Neurocutaneous Melanosis ◽  
Dandy Walker Malformation ◽  
Rare Case Report ◽  
Walker Malformation

scholarly journals X-linked congenital adrenal hypoplasia: a case presentation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hong Ouyang ◽  
Bo Chen ◽  
Na Wu ◽  
Ling Li ◽  
Runyu Du ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hormone Replacement ◽  
Slipped Capital Femoral Epiphysis ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Case Presentation ◽  
Early Symptoms ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia

Abstract Background Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison’s disease or congenital adrenal hyperplasia (CAH). There was also a significant time difference between the age at which patients developed symptoms and the age at which they were diagnosed with AHC. Most patients showed early symptoms during infantile and juvenile periods, but were diagnosed with AHC many years later. Case presentation We are currently reporting a male patient who developed systemic pigmentation at age 2 and was initially diagnosed with Addison’s disease. At 22 years of age, he experienced a slipped capital femoral epiphysis (SCFE), a disease mostly seen in adolescents aged 8–15 years, an important cause of which is endocrine disorder. Testes evaluated using color Doppler Ultrasonography suggested microcalcifications. Further genetic testing and auxiliary examinations revealed that the patient had hypogonadotropic hypogonadism (HH) and DAX-1 gene disorders, at which time he was diagnosed with AHC complicated by HH. He was given hormone replacement therapy, followed by regular outpatient review to adjust the medication. Conclusions The typical early symptoms of AHC are hyperpigmentation and ion disturbance during infantile and juvenile periods, while few patients with AHC develop puberty disorders as early symptoms. AHC is prone to being misdiagnosed as Addison’s disease, and then gradually develops the symptoms of HH in adolescence. The definitive diagnosis of AHC ultimately is based on the patient’s clinical presentation, laboratory results and genetic testing results.

Taenia–tela choroidea complex and choroid plexus location help distinguish Dandy-Walker malformation and Blake pouch cysts

2021 ◽  
Author(s):  
Matthew T. Whitehead ◽  
Gilbert Vezina ◽  
Sarah D. Schlatterer ◽  
Sarah B. Mulkey ◽  
Adre J. du Plessis
Keyword(s):  
Choroid Plexus ◽  
Dandy Walker Malformation ◽  
Tela Choroidea ◽  
Walker Malformation

scholarly journals Bladder hamartoma in Peutz-Jeghers syndrome: a rare case report

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jai Kumar ◽  
Mohammad Irfaan Albeerdy ◽  
Nadeem Ahmed Shaikh ◽  
Abdul Hafeez Qureshi
Keyword(s):  
Urinary Bladder ◽  
Filling Defect ◽  
Hamartomatous Polyps ◽  
Case Presentation ◽  
Rare Case Report ◽  
Mucocutaneous Pigmentation ◽  
Dominant Disease ◽  
Peutz Jeghers Syndrome ◽  
Comprehensive Compilation

Abstract Background Peutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future. Case presentation A twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up. Conclusions Transurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

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