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craniosynostoses/ataque epiléptico
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Metopic Craniosynostosis, Paroxysmal Dyskinesias, and Conversion Disorder (Psychogenic Nonepileptic Seizures) in an Early Adolescent with Depression: Challenges of Diagnosis and Treatment.
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From Resection to Disconnection for Seizure Control in Pediatric Epilepsy Children.
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Epilepsy surgery revealed dramatically improved seizure outcomes over medical therapy in drug-resistant epilepsy patients. Children with epilepsy, however, have multiple epileptic focuses which require multilobar resection for better seizure outcome. Multilobar resection has not only the several
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
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We report a 2-year-old female who initially presented with seizures, developmental delay and dysmorphic features and was found to have a 0.3 Mb deletion at chromosome 2q23.1 encompassing the critical seizure gene, MBD5. Her distinct physical features include bifrontal narrowing with brachycephaly,
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
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We report a 2-year-old female who initially presented with seizures, developmental delay and dysmorphic features and was found to have a 0.3 Mb deletion at chromosome 2q23.1 encompassing the critical seizure gene, MBD5. Her distinct physical features include bifrontal narrowing with brachycephaly,
Ultrastructural changes of basal laminae and protoplasmic astrocytes in craniostenosis with epilepsy.
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Human brain biopsy specimens from twenty-four patients with epilepsy associated with craniostenosis and characterized by electroencephalography, were studied with an electron microscope. Characteristic ultrastructural changes were found in the basal lamina covering capillaries in the gray matter
Further delineation of the C (trigonocephaly) syndrome.
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This communication brings the number of recognized cases of the C (trigonocephaly) syndrome to 11. The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick
Surgical correction of sagittal craniosynostosis: complications of the pi procedure.
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We have completed a retrospective analysis of our experience with the pi procedure to determine the complications of the technique. Forty-five children underwent correction of scaphocephaly during the last 4 years. The average patient age was 9.2 months. The modified prone position with beanbag head
Autologous stem cell regeneration in craniosynostosis.
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Craniosynostosis occurs in one of 2500 live human births and may manifest as craniofacial disfiguration, seizure, and blindness. Craniotomy is performed to reshape skull bones and resect synostosed cranial sutures. We demonstrate for the first time that autologous mesenchymal stem cells (MSCs) and
Surgical management of craniosynostosis in the setting of a ventricular shunt: a case series and treatment algorithm.
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OBJECTIVE
Cerebrospinal fluid diversion via ventricular shunt is a common treatment for hydrocephalus. Change in cranial morphology associated with a sutural fusion has been termed shunt-related or induced craniosynostosis (SRC) or craniocerebral disproportion (CCD). We present a series of patients
Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome.
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Deletion 22q11.2 syndrome is a well-known contiguous gene syndrome, for which the list of findings is extensive and varies from patient to patient. We encountered a unique patient who had a familial 3-Mb deletion 22q11.2 associated with trigonocephaly derived from craniosynostosis of the metopic
Surgical Correction of Unicoronal Craniosynostosis with Frontal Bone Symmetrization and Staggered Osteotomies.
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Slit ventricle syndrome and early-onset secondary craniosynostosis in an infant.
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METHODS
Female, 14 months
METHODS
Slit ventricle syndrome Symptoms: Hydrocephalus • lethargy and seizure • vomiting
METHODS
- Clinical Procedure: - Specialty: Pediatrics and Neonatology.
OBJECTIVE
Challenging differential diagnosis.
BACKGROUND
Shunt surgery is a common solution for hydrocephalus in
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.
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Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retardation, limbs
Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome.
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We report two sibs with Angelman syndrome or an apparently new syndrome. In addition to severe mental retardation and seizures, clinical examination showed an ataxic and stiff legged gait, truncal hypotonia with hypertonia of the limbs, dysmorphic facial features (brachycephaly, large mouth, pointed
Infantile spasms in a patient with williams syndrome and craniosynostosis.
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A patient with Williams syndrome, craniosynostosis, and infantile spasms is described. At age 6 months, the infant demonstrated infantile spasms and craniosynostosis and was operated on for craniosynostosis and treated with adrenocorticotropic hormone (ACTH) for the infantile spasms. ACTH completely
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