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congenital hydrocephalus

Mian Ma, Zhi-Liang Ding, Zhi-Qi Cheng, Gang Wu, Xiao-Yu Tang, Peng Deng, Jian-Dong Wu
OBJECTIVE: To explore the clinical characteristics of neurocutaneous melanosis (NCM) in adult patients in order to help improve diagnosis and treatment of this disease. METHODS: We present a rare case of an adult patient suffering from neurocutaneous melanosis with malignant melanoma as well as a review Chinese and English literature, and analyze their clinical features. RESULTS: There were thirty adult NCM patients, aged 19 to 65 years old, average 27...
March 9, 2018: World Neurosurgery
Shraddha Siwakoti, Rinku Sah, Rupa Singh Rajbhandari, Basudha Khanal
Introduction: Pantoea agglomerans, primarily an environmental and agricultural organism has been reported as both commensal and pathogen of humans. We present two case reports of P. agglomerans infections in children that involved the meninges and bloodstream. Case Presentations: A 6-month-old female baby, diagnosed as congenital hydrocephalus secondary to aqueduct stenosis with ventriculoperitoneal shunt in situ, operated 14 days back was brought to the pediatric emergency with a two-day history of high fever associated with vomiting, irritability, excessive crying, and decreased feeding...
2018: Case Reports in Pediatrics
K J Heaphy-Henault, C V Guimaraes, A R Mehollin-Ray, C I Cassady, W Zhang, N K Desai, M J Paldino
BACKGROUND AND PURPOSE: Congenital aqueductal stenosis is a common cause of prenatal ventriculomegaly. An accurate diagnosis provides prognostic information and may guide obstetric management. The purpose of this study was to identify specific anatomic findings on prenatal MR imaging that can be used as predictors of congenital aqueductal stenosis. MATERIALS AND METHODS: Prenatal and postnatal MRIs of fetuses referred to our institution for ventriculomegaly between June 2008 and August 2015 were reviewed...
March 8, 2018: AJNR. American Journal of Neuroradiology
Leticia Bignardi, Talita Prates, Andiara De Rossi, Paulo Nelson-Filho, Fabrício Kitasono de Carvalho, Talitha de Siqueira Mellara, Alexandra Mussolino de Queiroz
Myelomeningocele (MMC) is a congenital malformation that occurs in the embryonic period, characterized by failure in closure of the caudal portion of the neural tube during central nervous system formation. Alterations and complications can be associated with this condition, such as hydrocephalus, neurogenic bladder, orthopedic problems, and motor and cognitive impairment. This patients with MMC also have predisposition to develop latex allergy and high caries risk and activity due to deficient oral hygiene, fermentable carbon hydrate-rich diet and prolonged use of sugar-containing oral medications...
March 7, 2018: Special Care in Dentistry
Nesreen K Al-Jezawi, Aisha M Al-Shamsi, Jehan Suleiman, Salma Ben-Salem, Anne John, Ranjit Vijayan, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: Congenital hydrocephalus (CH) results from the accumulation of excessive amounts of cerebrospinal fluid (CSF) in the brain, often leading to severe neurological impairments. However, the adverse effects of CH can be reduced if the condition is detected and treated early. Earlier reports demonstrated that some CH cases are caused by mutations in L1CAM gene encoding the neural cell adhesion molecule L1. On the other hand, recent studies have implicated the multiple PDZ domain (MPDZ) gene in some severe forms of CH, inherited in an autosomal recessive pattern...
March 2, 2018: BMC Medical Genetics
Vinod Kumar Tewari, Rituj Somvanshi, Ravindra Bihari Trivedi, Mazhar Hussain, H K Das Gupta, R S Dubey
Tethering of the spinal cord in the lumbosacral region with myelomeningocele is a well-known phenomenon. Only sporadic cases of tethering along the rest of the neuraxis, including the hindbrain, cervical, and thoracic spinal cord have been documented, always along with some associated congenital malformations (hydrocephalus, Chiari malformation, myelomeningocele, meningocele, hamartomatous stalk, spina bifida occulta, intramedullary lipoma, intradural fibrous adhesions, the fusion of the sixth and seventh cervical vertebrae, split cord malformation, or low-lying cord)...
January 2018: Asian Journal of Neurosurgery
Chinh T Nguyen, Christine Goh, Patricia Desmond, Larry A Abel, Chris H L Lim, R C Andrew Symons, Thomas G Hardy
No abstract text is available yet for this article.
February 23, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Sarah B Cairo, Justice Agyei, Kavira Nyavandu, David H Rothstein, Luc Malemo Kalisya
PURPOSE: Evaluate the management of hydrocephalus in pediatric patients in the Eastern Democratic Republic of Congo by a general surgeon. METHODS: Retrospective review of a single institution in the province of North Kivu. Patient charts and surgical notes were reviewed from 2003 to 2016. RESULTS: 116 procedures were performed for an average of 8.9 per year. 51.7% of surgeries were on female patients with an average age of 13.6 ± 22.7...
February 16, 2018: Pediatric Surgery International
Marcelo Ferreira Sabba, Beatriz Souza Renor, Enrico Ghizoni, Helder Tedeschi, Andrei Fernandes Joaquim
Chiari malformation (CM) is the most common and prevalent symptomatic congenital craniocervical malformation. Radiological diagnosis is established when the cerebellar tonsils are located 5 mm or more below the level of the foramen magnum on magnetic resonance imaging (MRI). Surgical treatment is indicated whenever there is symptomatic tonsillar herniation or syringomyelia/hydrocephalus. The main surgical treatment for CM without craniocervical instability (such as atlantoaxial luxation) is posterior fossa decompression, with or without duraplasty...
November 2017: Revista da Associação Médica Brasileira
Ksenija Zega, Vukasin M Jovanovic, Zagorka Vitic, Magdalena Niedzielska, Laura Knaapi, Marin M Jukic, Juha Partanen, Roland H Friedel, Roland Lang, Claude Brodski
[This corrects the article on p. 372 in vol. 10, PMID: 29170629.].
2018: Frontiers in Molecular Neuroscience
Zahra Ebrahim Soltani, Zohreh Habibi, Farideh Nejat
Medulloblastoma is a congenital brain tumor which can be associated with different congenital anomalies. However, coincidence of cerebellar medulloblastoma with sacral agenesis has not been reported so far. A variety of genetic and/or environmental predisposing factors have been proposed for both diseases. Herein, an unprecedented coincidence of these two conditions is presented. A neonate was born with lumbosacral agenesis, paraplegia, and atrophic legs, and he developed medulloblastoma with three ventricular hydrocephalus 3 years later...
February 5, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Michael C Dewan, Jaims Lim, Stephen R Gannon, David Heaner, Matthew C Davis, Brandy Vaughn, Joshua J Chern, Brandon G Rocque, Paul Klimo, John C Wellons, Robert P Naftel
OBJECTIVE It has been suggested that the treatment of infant hydrocephalus results in different craniometric changes depending upon whether ventriculoperitoneal shunt (VPS) placement or endoscopic third ventriculostomy with choroid plexus cauterization (ETV/CPC) is performed. Without an objective and quantitative description of expected changes to the infant cranium and ventricles following ETV/CPC, asserting successful treatment of hydrocephalus is difficult. By comparing infants successfully treated via ETV/CPC or VPS surgery, the authors of this study aimed to define the expected postoperative cranial and ventricular alterations at the time of clinical follow-up...
February 2, 2018: Journal of Neurosurgery. Pediatrics
Jufen Liu, Lei Jin, Zhiwen Li, Yali Zhang, Le Zhang, Linlin Wang, Aiguo Ren
Congenital hydrocephalus (CH) was a major birth defect of the central nervous system besides neural tube defects (NTDs). Few studies have focused on both the prevalence and trend of isolated and complicated CH in China. Data were drawn from a population-based birth defects surveillance program in five rural counties in northern China from 2005 to 2015. All livebirths and pregnancy terminations at any gestational age affected with CH were recorded. The prevalence and trend of isolated and complicated CH were examined...
February 1, 2018: Metabolic Brain Disease
Navid Hakim, Cristina Soare, Jamil Hakim
Walker-Warburg syndrome (WWS) is a disorder characterized by ocular and brain malformations, and congenital muscular dystrophy. Retinal malformations are common in WWS; however, bilateral retinal detachment is a rare occurrence. We present a case of a newborn baby delivered at 36+3 weeks, who was the first living child of consanguineous parents of Turkish origin. On antenatal anomaly scans, the fetus had hydrocephalus that had increased throughout pregnancy, and a diagnosis of hydrancephaly was made at 36 weeks of gestation...
2018: International Medical Case Reports Journal
Vadivalagianambi Sivakumar, Venkatraman Indiran
No abstract text is available yet for this article.
January 30, 2018: Neurology
Nam K Yoon, Jonathan P Scoville, Philipp Taussky
Vein of Galen malformations are congenital high-flow vascular malformations that often present with heart failure, hydrocephalus, developmental delay, and intracranial hemorrhage. Because open surgical treatment is associated with high morbidity and mortality, endovascular embolization is increasingly becoming the preferred method of intervention. However, embolization of these lesions can be difficult because of their high-flow nature. The use of adenosine-induced cardiac standstill for treatment of vein of Galen malformations has not been previously described in neonates...
January 26, 2018: Journal of Neurosurgery. Pediatrics
Mehmet Arslan, Abdurrahman Aycan, Ismail Gulsen, Mehmet Edip Akyol, Fetullah Kuyumcu
OBJECTIVE: The purpose of this retrospective study was to clarify the relationship of shunt infection to childhood hydrocephalus etiology. METHODS: We analyzed 1021 patients with childhood hydrocephalus who underwent V-P shunting over a period of approximately 15 years. The etiology of 1021 patients include myelomeningocele (794 patient), congenital (165 patient) and intraventricular haemorrhage (62 patient). RESULTS: Of the 1021 patients who underwent V-P shunting, 19...
January 2018: JPMA. the Journal of the Pakistan Medical Association
Leila Chimelli, Sheila Moura Pone, Elyzabeth Avvad-Portari, Zilton Farias Meira Vasconcelos, Andrea Araújo Zin, Daniela Prado Cunha, Nathalia Raposo Thompson, Maria Elisabeth Lopes Moreira, Clayton A Wiley, Marcos Vinicius da Silva Pone
During the Zika epidemic in Brazil, a baby was born at term with microcephaly and arthrogryposis. The mother had Zika symptoms at 10 weeks of gestation. At 17 weeks, ultrasound showed cerebral malformation and ventriculomegaly. At 24 weeks, the amniotic fluid contained ZIKV RNA and at birth, placenta and maternal blood were also positive using RT-qPCR. At birth the baby urine contained ZIKV RNA, whereas CSF at birth and urine at 17 days did not. Seizures started at 6 days. EEG was abnormal and CT scan showed cerebral atrophy, calcifications, lissencephaly, ventriculomegaly, and cerebellar hypoplasia...
March 1, 2018: Journal of Neuropathology and Experimental Neurology
Gaia Ruggeri, Andrew E Timms, Chi Cheng, Avery Weiss, Peter Kollros, Teresa Chapman, Hannah Tully, Ghayda M Mirzaa
Congenital or infantile hydrocephalus is caused by genetic and non-genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non-syndromic congenital hydrocephalus in three reported families. Here, we report the fourth known family with two affected individuals with congenital hydrocephalus due to a homozygous mutation in the CCDC88C gene identified by whole exome sequencing...
January 17, 2018: American Journal of Medical Genetics. Part A
Zakia Abdelhamed, Shawn M Vuong, Lauren Hill, Crystal Shula, Andrew Timms, David Beier, Kenneth Campbell, Francesco T Mangano, Rolf W Stottmann, June Goto
Pediatric hydrocephalus is characterized by an abnormal accumulation of cerebrospinal fluid (CSF) and is one of the most common congenital brain abnormalities. However, little is known about the molecular and cellular mechanisms regulating CSF flow in the developing brain. Through whole-genome sequencing analysis, we report that a homozygous splice site mutation in coiled-coil domain containing 39 (Ccdc39) is responsible for early postnatal hydrocephalus in the progressive hydrocephalus (prh) mouse mutant. Ccdc39 is selectively expressed in embryonic choroid plexus and ependymal cells on the medial wall of the forebrain ventricle, and the protein is localized to the axoneme of motile cilia...
January 9, 2018: Development
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