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Firas Bannout, Sheri Harder, Michael Lee, Alexander Zouros, Ravi Raghavan, Travis Fogel, Kenneth De Los Reyes, Travis Losey
The neurosurgical treatment of skull base temporal encephalocele for patients with epilepsy is variable. We describe two adult cases of temporal lobe epilepsy (TLE) with spheno-temporal encephalocele, currently seizure-free for more than two years after anterior temporal lobectomy (ATL) and lesionectomy sparing the hippocampus without long-term intracranial electroencephalogram (EEG) monitoring. Encephaloceles were detected by magnetic resonance imaging (MRI) and confirmed by maxillofacial head computed tomography (CT) scans...
March 12, 2018: Brain Sciences
Norman C Charles, Richard D Lisman, Payal Patel, Alison B Callahan
Nasal glioma, encephalocele, and ectopic brain are rare congenital anomalies. The terminology applied to these entities has been historically confusing. In many cases, the terms overlap and may be employed synonymously although some authors emphasize their differences. The authors describe herein a child with an inner canthal mass of brain-like tissue that they interpret as nasal glioma, a variety of encephalocele that has lost its connection to the intracranial contents. This research was conducted in conformity with the Helsinki Declaration and Health Insurance Portability and Accountability Act regulations...
March 2, 2018: Ophthalmic Plastic and Reconstructive Surgery
Vaibhav Kumar Jain, Vikas Kanaujia, Priyadarshini Mishra, Kumudini Sharma
Encephalocele is a rare congenital abnormality characterized by abnormal protrusion of brain and meninges through an opening in the skull. We report an 8-year-old girl who presented with a swelling in the right lower lid for the last 6 years. In her infancy, she had undergone surgery for a very small swelling located in the right nasolacrimal area. On further clinicoradiological evaluation, anterior encephalocele was diagnosed. This case highlights the uncommon site of anterior encephalocele; misdiagnosis and mismanagement of which could result in dreaded complications such as meningitis and cerebrospinal fluid leaking fistula formation...
March 2018: Indian Journal of Ophthalmology
Houda Nasser Al Yaqoubi, Nishat Fatema
Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities...
February 2018: Oxford Medical Case Reports
Meghan Wilson, Carl Snyderman
Developmental anomalies of the skull base may present in childhood or as an adult. The most common pathologies include dermoid, encephalocele, and glioma. Encephaloceles may present as part of a syndrome. Other entities include infantile hemangiomas and teratoma. Endoscopic techniques provide a less invasive and morbid option for treatment. Proper evaluation and treatment is necessary to prevent complications such as meningitis.
February 2018: Journal of Neurological Surgery. Part B, Skull Base
Naga V Vemuri, Lakshmi S P Karanam, Venkatesh Manchikanti, Srinivas Dandamudi, Sampath K Puvvada, Vineet K Vemuri
Cerebrospinal fluid (CSF) leak occurs due to a defect in the dura and skull base. Trauma remains the most common cause of CSF leak; however, a significant number of cases are iatrogenic, and result from a complication of functional endoscopic sinus surgery (FESS). Early diagnosis of CSF leak is of paramount importance to prevent life-threatening complications such as brain abscess and meningitis. Imaging plays a crucial role in the detection and characterization of CSF leaks. Three-dimensional, isotropic, high resolution computed tomography (HRCT) accurately detects the site and size of the bony defect...
October 2017: Indian Journal of Radiology & Imaging
Lewis B Holmes, M Hassan Toufaily, Marie-Noel Westgate
BACKGROUND: Iniencephaly is a severe developmental abnormality of the craniovertebral junction in which the head is retroflexed dramatically. Anatomic studies have identified striking changes in the vertebrae and skull: marked lordosis of the cervical vertebrae, duplicated cervical vertebrae, irregularly fused cervical vertebrae, a widened foramen magnum and a small posterior fossa. The affected infant appears to have no neck, as the skin of the face is continuous with the chest and the skin of the posterior scalp is continuous with the skin of the back...
January 2018: Birth Defects Research
Fuad Al Mutairi, Fatema Alzahrani, Farouq Ababneh, Amna A Kashgari, Fowzan S Alkuraya
Neural tube defects (NTD) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTD are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian forms of NTD in which single variants are sufficient to cause the disease are extremely rare. We report a monozygotic twin with severe NTD (occipital encephalocele and myelomeningocele) and a shared de novo likely truncating variant in SMARCC1...
January 23, 2018: Annals of Neurology
Ehtesham Ul Haq, Muhammad Umar Qayyum, Muhammad Iran Ilahı, Saadat Ali Janjua, Ayesha Aslam, Rubbab Zahra
Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital...
December 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
Fatima Azahraa Haddad, Ibraheem Qaisi, Nagham Joudeh, Hamada Dajani, Fareed Jumah, Amjad Elmashala, Nimer Adeeb, Joshua J Chern, R Shane Tubbs
In 1891 Hans Chiari described a group of congenital hindbrain anomalies, which were eventually named after him. He classified these malformations into three types (Chiari malformations I, II, and III), and four years later added the Chiari IV malformation. However, numerous reports across the literature do not seem to fit Chiari's original descriptions of these malformations, so researchers have been encouraged to propose new classifications to encompass these variants (e.g., Chiari 0, Chiari1.5, and Chiari 3...
January 18, 2018: Clinical Anatomy
Zvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, Shani Ben Harouch, David Savitzki, Karina Krajden-Haratz, Liat Gindes, Mordechai Tamarkin, Dorit Lev, William B Dobyns, Tally Lerman-Sagie
OBJECTIVES: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family. METHODS: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation. RESULTS: The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia)...
December 26, 2017: European Journal of Paediatric Neurology: EJPN
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray analysis is effectively applied prenatally to detect copy number changes. Single nucleotide polymorphism (SNP) probes included in the microarray platform can detect regions of excessive homozygosity and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 11, 2018: Prenatal Diagnosis
David W Kennedy, Robert Brody
The patient is a 55 year old female who presented with a right sided intranasal mass in 2014. Surgery was recommended, but the patient cancelled the surgery. She returned three years later with a significant progression of the lesion. What is this lesion and how would you manage it? Five months after resection of the lesion, the patient returns with pulsatile clear mucus visible on nasal endoscopy in the region of the prior mass excision. What does this represent and how should we proceed at this point? Is the patient developing a meningo-encephalocele?...
January 2018: International Forum of Allergy & Rhinology
Sameer A Alvi, Joel W Jones, Jim Lin
OBJECTIVES: To describe a unique case of bilateral dehiscence of the malleus and incus heads into the middle fossa making contact with the temporal lobes, along with its clinical implications. METHODS: An analysis of a patient case and review of pertinent literature were performed. RESULTS: A patient with a history of right-sided mastoidectomy for cholesteatoma was evaluated for persistent conductive hearing loss. On computed tomography (CT) and magnetic resonance imaging (MRI), the patient had a complete dehiscence of the tegmen tympani on the right, with ossicular heads being located above the floor of the middle cranial fossa...
March 2018: Annals of Otology, Rhinology, and Laryngology
Muhammad Arifin, Wihasto Suryaningtyas, Abdul Hafid Bajamal
PURPOSE: The purpose of this study is to review a large series of frontoethmoidal encephalocele (FEE) regarding their clinical presentation, the progressiveness of the mass volume, the skin stigmata as well as its surgical approach and post-surgical complications. METHOD: Records of all FEE patients treated in Soetomo General Hospital, Surabaya, and Charity Foundation Program from 2008 to 2015 were reviewed. Detailed patient's demography, clinical findings, radiology results, operative procedures, and complications were documented...
January 5, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
Burak Ardıçlı, Ayşe Karaman, Ahmet Özyazıcı, Ayşegül Zenciroğlu, Nurullah Okumuş
Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N. Isolated thoracoschisis: Case report. Turk J Pediatr 2017; 59: 217-220. Thoracoschisis is a rare congenital anomaly that refers to a congenital fissure of the chest wall. It is frequently accompanied with other congenital defects of the limbs and the abdominal wall as part of the limb-body wall complex, which is exencephaly/encephalocele and facial clefts, thoracoschisis and/or abdominoschisis and limb defects. Isolated thoracoschisis is a rare entity...
2017: Turkish Journal of Pediatrics
Isabel Tulloch, Siobhan Palmer, Richard Scott, Dora Lozsadi, Andrew J Martin
We report the case of a 55-year-old woman presenting with progressive memory impairment secondary to a transsphenoidal encephalocele involving her dominant medial temporal lobe. Her clinical deterioration was accompanied by radiological progression in the encephalocele's size and associated encephalomalacia. Through a temporal craniotomy, her encephalocele was resected and the defect closed. Baseline neuropsychological assessment indicated global cognitive impairment, but post-operatively, she reported improved memory and concentration...
December 17, 2017: Acta Neurochirurgica
Özgür Ertuğrul, Esra Çiçekçi, Mehmet Cudi Tuncer, Mehmet Ufuk Aluçlu
Common presentation of atretic parietal cephalocele (APC) is mostly seen in infants and young children. And, it is a palpable midline parietal soft tissue mass which is thought to represent involuted true cephalocele (meningocele or encephalocele)connected to dura mater via a fibrous stalk. The incidence of intracranial anomalies have increased with APC. Parietal cephaloceles comprise about 1% of all cerebrospinal congenital malformations and 10% of cephaloceles. We report here the case of an atretic parietal cephalocele with no associated brain malformations in adult...
December 13, 2017: Folia Morphologica (Warsz)
Basma Sadik, Haydar E Babikir, Mohammed A R Arbab
Neural tube defects (NTDs) are one of the most common structural malformations in human kind. It is a public health problem with great impact on the child, parents and the community at large. The aim is to study the epidemiological profile and patterns of NTDs in under five-year of age Sudanese children who attended the neurosurgical clinic at the National Centre of Neurological Sciences (NCNS), Khartoum during the period from March 2014 to December 2014. This was a prospective cross-sectional study conducted at the neurosurgery clinic in NCNS, Khartoum...
2017: Sudanese Journal of Paediatrics
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