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congenital hydrocephalus

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https://www.readbyqxmd.com/read/28815891/cystic-kidneys-in-fetal-walker-warburg-syndrome-with-pomt2-mutation-intrafamilial-phenotypic-variability-in-four-siblings-and-review-of-literature
#1
Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, Sungho Eun, Sahar N Saleem, Heon YungGee, Friedhelm Hildebrandt, Neveen A Soliman
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815096/a-case-of-congenital-brainstem-oligodendroglioma-pathology-findings-and-review-of-the-literature
#2
Stefan Kostadinov, Suzanne de la Monte
Congenital and perinatal primary brain neoplasms are extremely rare. Brainstem neoplasms in the perinatal and neonatal period are typically of high-grade nature and have poor prognoses with survival rates of less than 2 years from diagnosis. Herein, we report an unusual case of congenital anaplastic oligodendroglioma that arose in the pons and was detected as diffuse pontine glioma on in utero imaging studies during prenatal evaluation at 26 weeks' gestation. A male infant was delivered at 36.4 weeks of gestation via Cesarean section who developed progressive dyspnea shortly after birth...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#3
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina Zambrano
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain...
August 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28768473/a-de-novo-missense-mutation-of-fgfr2-causes-facial-dysplasia-syndrome-in-holstein-cattle
#4
Jørgen S Agerholm, Fintan J McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. RESULTS: Seven malformed calves were submitted examination...
August 2, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28761539/extensive-intracranial-calcification-of-pseudo-torch-syndrome-with-features-of-dandy-walker-malformation
#5
Ashis Patnaik, Sudhansu Sekhar Mishra, Srikanta Das
Pseudo-TORCH syndrome or congenital infection-like syndrome is a group of conditions which resemble congenital infections such as those caused by toxoplasmosis, rubella, cytomegalovirus (CMV), herpes (TORCH) group of organisms, clinico-radiologically, but serological tests are negative for the organisms. One of the variety shows features such as microcephaly, extensive intracranial calcification showing gross resemblance to congenital CMV infection, making its other name as microcephaly intracranial calcification syndrome (MICS)...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28730252/morphological-imaging-and-surgical-aspects-in-a-complex-case-of-uterine-leiomyosarcoma-case-report-and-review-of-the-literature
#6
Aida TincuŢa Petca, Simona Vlădăreanu, Dan Cristian Radu, Mihaela BoŢ, Costin Berceanu, Bogdan Stelian Mastalier Manolescu, Cosmin Medar, Răzvan Cosmin Petca
Leiomyosarcoma is a rare condition so there are relatively few and small case series and no prospective studies to provide clear guidelines regarding management. We report on a case that presents some particularities that further underline diagnostic and treatment difficulties posed by the affliction of such a rare tumor. This is the case of a 43-year-old woman who had a large tumor arising from the uterus, with a spectacular growth rate over a short period. The patient, with congenital spastic tetraparesis and hydrocephalus, came for belly enlargement with rapid increase in size over the previous two months...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28721594/exome-analysis-in-an-estonian-multiplex-family-with-neural-tube-defects-a-case-report
#7
Liina Pappa, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Ann Paal, Tiit Nikopensius
INTRODUCTION: Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits...
July 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28674724/infantile-scimitar-syndrome-with-unusual-associations
#8
Abullah Al-Shamrani, Reem S AlSadi, Motea E Elhoury, Adel S AlHarbi
Scimitar syndrome is a variant of partial anomalous pulmonary venous connection (PAPVC), in which all or part of the right lung is drained by right pulmonary veins that anomalously connect to the inferior vena cava (IVC). The affected lung and its associated airways are often hypoplastic. In addition, aortopulmonary collateral vessels may be involved on the affected side, causing sequestration of that side; such involvement is commonly associated with cardiac defects. We report a case of infantile scimitar syndrome that involved a typical association with the right lung, but with extremely unusual associations with congenital hydrocephalus and heart blockage...
July 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28643040/management-of-an-unusual-recurrent-neurenteric-cyst-in-an-infant-case-report-and-review-of-the-literature
#9
Darian R Esfahani, Laura Burokas, Henry G Brown, Yoon S Hahn, Dimitrios Nikas
PURPOSE: Neurenteric cysts are rare congenital remnants formed by a failure of separation between endoderm and ectoderm in utero. METHODS: We describe a case of a 7-month-old male with a large cervical neurenteric cyst presenting with intermittent neck stiffness and irritability. RESULTS: This cyst was resected, recurred, and required repeat surgery. The patient's postoperative course included aseptic meningitis and hydrocephalus requiring ventriculoperitoneal shunt and later management of tethered cord, necessitating detethering...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28598265/robot-assisted-endoscopic-third-ventriculostomy-institutional-experience-in-9-patients
#10
Reid Hoshide, Mark Calayag, Hal Meltzer, Michael L Levy, David Gonda
OBJECTIVE The endoscopic third ventriculostomy (ETV) is an established and effective treatment for obstructive hydrocephalus. In its most common application, surgeons plan their entry point and the endoscope trajectory for the procedure based on anatomical landmarks, then control the endoscope freehand. Recent studies report an incidence of neural injuries as high as 16.6% of all ETVs performed in North America. The authors have introduced the ROSA system to their ETV procedure to stereotactically optimize endoscope trajectories, to reduce risk of traction on neural structures by the endoscope, and to provide a stable mechanical holder of the endoscope...
August 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28564670/current-concepts-in-the-pathogenesis-diagnosis-and-management-of-type-i-chiari-malformations
#11
Cody A Doberstein, Radmehr Torabi, Petra M Klinge
Type 1 Chiari malformations (CMs) are a group of congenital or acquired disorders which include the abnormal presence of the cerebellar tonsils in the upper spinal canal, rather than the posterior fossa. The resulting anatomic abnormality causes crowding of the structures at the craniocervical junction and can impair the normal flow of cerebral spinal fluid (CSF) in this region. This impairment in CSF flow dynamics can led to the development of syringomyelia or hydrocephalus. Type 1 CMs have been associated with a wide array of symptoms resulting from either cerebellar and brainstem compression and distortion or disturbances in CSF dynamics, and can affect both children and adults...
June 1, 2017: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/28556411/the-genetic-landscape-of-familial-congenital-hydrocephalus
#12
Ranad Shaheen, Mohammed Adeeb Sebai, Nisha Patel, Nour Ewida, Wesam Kurdi, Ikhlass Altweijri, Sameera Sogaty, Elham Almardawi, Mohammed Zain Seidahmed, Abdulrahman Alnemri, Sateesh Madirevula, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Tarfa Al-Sheddi, Rana Alomar, Eman Alobeid, Bahauddin Sallout, Badi AlBaqawi, Wajeih AlAali, Nouf Ajaji, Harry Lesmana, Robert J Hopkin, Lucie Dupuis, Roberto Mendoza-Londono, Hadeel Al Rukban, Grace Yoon, Eissa Faqeih, Fowzan S Alkuraya
OBJECTIVE: Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease...
June 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28553391/aspergillus-growth-within-ventriculoperitoneal-shunt-tube
#13
Vikas Kumar, Poonam Sood Loomba, Daljit Singh, Ravindra Kumar Saran
Cerebrospinal fluid (CSF) shunt failure is commonly associated with infection or mechanical obstruction of the shunt system. A 4-year-old male child who had undergone multiple shunt revisions at another hospital for congenital hydrocephalus and later for shunt obstruction, presented with exposed shunt at the supraclavicular region. Shunt revision was performed. The CSF culture showed no growth; however, the histopathological examination of shunt tube showed Aspergillus growth inside the lumen of silicone tube well away from the tip of ventriculoperitoneal shunt...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28533829/clinical-analysis-of-aqueductal-stenosis-in-patients-with-hydrocephalus-in-a-kenyan-setting
#14
Loyal Poonamjeet Kaur, Nderitu Joseph Munyiri, Wekesa Vincent Dismus
INTRODUCTION: Aqueductal stenosis is the commonest cause of congenital hydrocephalus. The scope of this paper is to highlight the disease burden of hydrocephalus attributed to aqueductal stenosis which still remains unknown in our setting. METHODS: In a descriptive cross-sectional study, 258 records of patients diagnosed with hydrocephalus were analyzed after ethical approval from Kenyatta National Hospital- University of Nairobi (KNH-UON) ethics and research committee from January 2010 to May 2016...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28528738/our-initial-experience-with-ventriculo-epiplooic-shunt-in-treatment-of-hydrocephalus-in-two-centers
#15
Valentin Titus Grigorean, Aurelia Mihaela Sandu, Mihai Popescu, Ioan Stefan Florian, Cristian Dumitru Lupascu, Corina Lupascu Ursulescu
INTRODUCTION: Hydrocephalus represents impairment in cerebrospinal fluid (CSF) dynamics. If the treatment of hydrocephalus is considered difficult, the repeated revisions of ventriculo-peritoneal (VP) shunts are even more challenging. OBJECTIVE: The aim of this article is to evaluate the efficiency of ventriculo-epiplooic (VEp) shunt as a feasible alternative in hydrocephalic patients. MATERIAL AND METHODS: A technical modification regarding the insertion of peritoneal catheter was imagined: midline laparotomy 8-10cm long was performed in order to open the peritoneal cavity; the great omentum was dissected between its two layers; we placed the distal end of the catheter between the two epiplooic layers; a fenestration of 4cm in diameter into the visceral layer was also performed...
May 11, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28527269/-first-evidence-of-lymphocytic-choriomeningitis-virus-arenavirus-infection-in-mus-musculus-rodents-captured-in-the-urban-area-of-the-municipality-of-sincelejo-sucre-colombia
#16
Anais Castellar, Marco Guevara, Juan D Rodas, Andrés F Londoño, Esteban Arroyave, Francisco J Díaz, Silvana Levis, Pedro J Blanco
INTRODUCTION: The lymphocytic choriomeningitis virus is an Old World arenavirus that infects Mus musculus, and can cause congenital hydrocephalus, chorioretinitis and multisystemic failure in transplant human recipients. Although the disease has not been clinically diagnosed in Colombia yet, there have been reports of infection with the Pichindé virus in rodents from Cauca and Valle del Cauca departments, and with the Guanarito virus in rodents from Córdoba department. OBJECTIVE: To identify the lymphocytic choriomeningitis virus from Mus musculus captured in the municipality of Sincelejo...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28521038/ventricular-zone-disruption-in-human-neonates-with-intraventricular-hemorrhage
#17
James P McAllister, Maria Montserrat Guerra, Leandro Castaneyra Ruiz, Antonio J Jimenez, Dolores Dominguez-Pinos, Deborah Sival, Wilfred den Dunnen, Diego M Morales, Robert E Schmidt, Esteban M Rodriguez, David D Limbrick
To determine if ventricular zone (VZ) and subventricular zone (SVZ) alterations are associated with intraventricular hemorrhage (IVH) and posthemorrhagic hydrocephalus, we compared postmortem frontal and subcortical brain samples from 12 infants with IVH and 3 nonneurological disease controls without hemorrhages or ventriculomegaly. Birth and expiration estimated gestational ages were 23.0-39.1 and 23.7-44.1 weeks, respectively; survival ranges were 0-42 days (median, 2.0 days). Routine histology and immunohistochemistry for neural stem cells (NSCs), neural progenitors (NPs), multiciliated ependymal cells (ECs), astrocytes (AS), and cell adhesion molecules were performed...
May 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28516217/prenatal-surgery-for-myelomeningocele-review-of-the-literature-and-future-directions
#18
Gregory G Heuer, Julie S Moldenhauer, N Scott Adzick
Open spina bifida or myelomeningocele (MMC) is one of the most common serious congenital malformations. Historically, this condition has been treated with closure of the MMC defect shortly after birth. The goal of postnatal closure is to cover the exposed spinal cord and prevent infection. However, postnatal surgery does not reverse or prevent the neurologic injury seen in MMC, reverse hindbrain herniation, or prevent hydrocephalus. The neurologic defects result from primary incomplete neurulation and secondary chronic prenatal damage to the exposed neural elements through mechanical and chemical trauma...
July 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#19
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28500065/loss-of-mpdz-impairs-ependymal-cell-integrity-leading-to-perinatal-onset-hydrocephalus-in-mice
#20
Anja Feldner, M Gordian Adam, Fabian Tetzlaff, Iris Moll, Dorde Komljenovic, Felix Sahm, Tobias Bäuerle, Hiroshi Ishikawa, Horst Schroten, Thomas Korff, Ilse Hofmann, Hartwig Wolburg, Andreas von Deimling, Andreas Fischer
Hydrocephalus is a common congenital anomaly. LCAM1 and MPDZ (MUPP1) are the only known human gene loci associated with non-syndromic hydrocephalus. To investigate functions of the tight junction-associated protein Mpdz, we generated mouse models. Global Mpdz gene deletion or conditional inactivation in Nestin-positive cells led to formation of supratentorial hydrocephalus in the early postnatal period. Blood vessels, epithelial cells of the choroid plexus, and cilia on ependymal cells, which line the ventricular system, remained morphologically intact in Mpdz-deficient brains...
July 2017: EMBO Molecular Medicine
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