المؤلفون: Houtrow, Amy, Thom, Elizabeth, Fletcher, Jack, Burrows, Pamela, Adzick, N, Thomas, Nina, Brock, John, Cooper, Timothy, Bilaniuk, Larissa, Pruthi, Sumit, MacPherson, Cora, Walker, William, Johnson, Mark, Howell, Lori, Glenn, Orit, Gupta, Nalin, Lee, Hanmin, Farmer, Diana

المصدر: Pediatrics. 145(2)

مصطلحات موضوعية: Adaptation, Psychological, Cerebrospinal Fluid Shunts, Child, Child, Preschool, Encephalocele, Family, Female, Follow-Up Studies, Humans, Hydrocephalus, Male, Meningomyelocele, Postnatal Care, Pregnancy, Prenatal Care, Quality of Life, Rhombencephalon, Treatment Outcome

الوصف: BACKGROUND AND OBJECTIVES: The Management of Myelomeningocele Study (MOMS), a randomized trial of prenatal versus postnatal repair for myelomeningocele, found that prenatal surgery resulted in reduced hindbrain herniation and need for shunt diversion at 12 months of age and better motor function at 30 months. In this study, we compared adaptive behavior and other outcomes at school age (5.9-10.3 years) between prenatal versus postnatal surgery groups. METHODS: Follow-up cohort study of 161 children enrolled in MOMS. Assessments included neuropsychological and physical evaluations. Children were evaluated at a MOMS center or at a home visit by trained blinded examiners. RESULTS: The Vineland composite score was not different between surgery groups (89.0 ± 9.6 in the prenatal group versus 87.5 ± 12.0 in the postnatal group; P = .35). Children in the prenatal group walked without orthotics or assistive devices more often (29% vs 11%; P = .06), had higher mean percentage scores on the Functional Rehabilitation Evaluation of Sensori-Neurologic Outcomes (92 ± 9 vs 85 ± 18; P < .001), lower rates of hindbrain herniation (60% vs 87%; P < .001), had fewer shunts placed for hydrocephalus (49% vs 85%; P < .001) and, among those with shunts, fewer shunt revisions (47% vs 70%; P = .02) than those in the postnatal group. Parents of children repaired prenatally reported higher mean quality of life z scores (0.15 ± 0.67 vs 0.11 ± 0.73; P = .008) and lower mean family impact scores (32.5 ± 7.8 vs 37.0 ± 8.9; P = .002). CONCLUSIONS: There was no significant difference between surgery groups in overall adaptive behavior. Long-term benefits of prenatal surgery included improved mobility and independent functioning and fewer surgeries for shunt placement and revision, with no strong evidence of improved cognitive functioning.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/85r1f1tpTest

المؤلفون: Houtrow, Amy J, Thom, Elizabeth A, Fletcher, Jack M, Burrows, Pamela K, Adzick, N Scott, Thomas, Nina H, Brock, John W, Cooper, Timothy, Lee, Hanmin, Bilaniuk, Larissa, Glenn, Orit A, Pruthi, Sumit, MacPherson, Cora, Farmer, Diana L, Johnson, Mark P, Howell, Lori J, Gupta, Nalin, Walker, William O

المصدر: Pediatrics. 145(2)

مصطلحات موضوعية: Rhombencephalon, Humans, Hydrocephalus, Encephalocele, Meningomyelocele, Treatment Outcome, Postnatal Care, Prenatal Care, Cerebrospinal Fluid Shunts, Follow-Up Studies, Adaptation, Psychological, Family, Pregnancy, Quality of Life, Child, Child, Preschool, Female, Male, Behavioral and Social Science, Clinical Trials and Supportive Activities, Neurosciences, Brain Disorders, Rehabilitation, Clinical Research, Pediatric, 7.1 Individual care needs, Management of diseases and conditions, Medical and Health Sciences, Psychology and Cognitive Sciences, Pediatrics

الوصف: The Management of Myelomeningocele Study (MOMS), a randomized trial of prenatal versus postnatal repair for myelomeningocele, found that prenatal surgery resulted in reduced hindbrain herniation and need for shunt diversion at 12 months of age and better motor function at 30 months. In this study, we compared adaptive behavior and other outcomes at school age (5.9-10.3 years) between prenatal versus postnatal surgery groups. Follow-up cohort study of 161 children enrolled in MOMS. Assessments included neuropsychological and physical evaluations. Children were evaluated at a MOMS center or at a home visit by trained blinded examiners. The Vineland composite score was not different between surgery groups (89.0 ± 9.6 in the prenatal group versus 87.5 ± 12.0 in the postnatal group; P = .35). Children in the prenatal group walked without orthotics or assistive devices more often (29% vs 11%; P = .06), had higher mean percentage scores on the Functional Rehabilitation Evaluation of Sensori-Neurologic Outcomes (92 ± 9 vs 85 ± 18; P < .001), lower rates of hindbrain herniation (60% vs 87%; P < .001), had fewer shunts placed for hydrocephalus (49% vs 85%; P < .001) and, among those with shunts, fewer shunt revisions (47% vs 70%; P = .02) than those in the postnatal group. Parents of children repaired prenatally reported higher mean quality of life z scores (0.15 ± 0.67 vs 0.11 ± 0.73; P = .008) and lower mean family impact scores (32.5 ± 7.8 vs 37.0 ± 8.9; P = .002). There was no significant difference between surgery groups in overall adaptive behavior. Long-term benefits of prenatal surgery included improved mobility and independent functioning and fewer surgeries for shunt placement and revision, with no strong evidence of improved cognitive functioning.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5hw757k0Test

المؤلفون: Houtrow, Amy J, Thom, Elizabeth A, Fletcher, Jack M, Burrows, Pamela K, Adzick, N Scott, Thomas, Nina H, Brock, John W, Cooper, Timothy, Lee, Hanmin, Bilaniuk, Larissa, Glenn, Orit A, Pruthi, Sumit, MacPherson, Cora, Farmer, Diana L, Johnson, Mark P, Howell, Lori J, Gupta, Nalin, Walker, William O

المصدر: Pediatrics. 145(2)

مصطلحات موضوعية: Rhombencephalon, Humans, Hydrocephalus, Encephalocele, Meningomyelocele, Treatment Outcome, Postnatal Care, Prenatal Care, Cerebrospinal Fluid Shunts, Follow-Up Studies, Adaptation, Psychological, Family, Pregnancy, Quality of Life, Child, Child, Preschool, Female, Male, Behavioral and Social Science, Clinical Research, Clinical Trials and Supportive Activities, Neurosciences, Brain Disorders, Rehabilitation, Pediatric, 7.1 Individual care needs, Pediatrics, Medical and Health Sciences, Psychology and Cognitive Sciences

الوصف: Background and objectivesThe Management of Myelomeningocele Study (MOMS), a randomized trial of prenatal versus postnatal repair for myelomeningocele, found that prenatal surgery resulted in reduced hindbrain herniation and need for shunt diversion at 12 months of age and better motor function at 30 months. In this study, we compared adaptive behavior and other outcomes at school age (5.9-10.3 years) between prenatal versus postnatal surgery groups.MethodsFollow-up cohort study of 161 children enrolled in MOMS. Assessments included neuropsychological and physical evaluations. Children were evaluated at a MOMS center or at a home visit by trained blinded examiners.ResultsThe Vineland composite score was not different between surgery groups (89.0 ± 9.6 in the prenatal group versus 87.5 ± 12.0 in the postnatal group; P = .35). Children in the prenatal group walked without orthotics or assistive devices more often (29% vs 11%; P = .06), had higher mean percentage scores on the Functional Rehabilitation Evaluation of Sensori-Neurologic Outcomes (92 ± 9 vs 85 ± 18; P < .001), lower rates of hindbrain herniation (60% vs 87%; P < .001), had fewer shunts placed for hydrocephalus (49% vs 85%; P < .001) and, among those with shunts, fewer shunt revisions (47% vs 70%; P = .02) than those in the postnatal group. Parents of children repaired prenatally reported higher mean quality of life z scores (0.15 ± 0.67 vs 0.11 ± 0.73; P = .008) and lower mean family impact scores (32.5 ± 7.8 vs 37.0 ± 8.9; P = .002).ConclusionsThere was no significant difference between surgery groups in overall adaptive behavior. Long-term benefits of prenatal surgery included improved mobility and independent functioning and fewer surgeries for shunt placement and revision, with no strong evidence of improved cognitive functioning.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5hw757k0Test

المؤلفون: Castro, Brandyn A, Imber, Brandon S, Chen, Rebecca, McDermott, Michael W, Aghi, Manish K

المصدر: Neurosurgery. 80(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Neurosciences, Bioengineering, Cancer, Brain Cancer, Rare Diseases, Brain Disorders, Assistive Technology, Hydrocephalus, Adolescent, Adult, Aged, Aged, 80 and over, Brain Neoplasms, Child, Female, Glioblastoma, Humans, Male, Middle Aged, Retrospective Studies, Risk Factors, Treatment Outcome, Ventriculoperitoneal Shunt, Young Adult, Ventriculoperitoneal shunt, Neurology & Neurosurgery, Clinical sciences, Biological psychology

الوصف: BackgroundGlioblastoma patients can develop hydrocephalus, either obstructive, typically at diagnosis as a result of mass effect, or communicating, usually later in the disease.ObjectiveTo characterize the indications and efficacy of ventriculoperitoneal (VP) shunting for patients with glioblastoma-associated hydrocephalus.MethodsRetrospective review was conducted of 841 glioblastoma patients diagnosed from 2004 to 2014, 64 (8%) of whom underwent VP shunting for symptomatic hydrocephalus, to analyze symptoms and outcomes after shunting. Overall survival and postshunt survival were analyzed with Kaplan-Meier methods, with predictors evaluated by use of Cox proportional hazards.ResultsOf the 64 patients who underwent shunting, 42 (66%) had communicating hydrocephalus (CH) and 22 (34%) had obstructive hydrocephalus (OH). CH patients underwent more preshunt craniotomies than those with noncommunicating hydrocephalus, with a mean of 2.3 and 0.7 surgeries, respectively ( P < .001). Ventricular entry during craniotomy occurred in 52% of CH patients vs 59% of those with OH ( P = .8). After shunting, 61% of all patients achieved symptomatic improvement, which was not associated with hydrocephalus variant ( P > .99). Hydrocephalus symptom improvement rates were as follows: headache, 77%; lethargy, 61%; and altered cognition or memory, 54%. Symptomatic improvement was more likely in patients who were younger at shunt placement (hazard ratio, 0.96; P = .045). Symptomatic improvement, shorter time between glioblastoma diagnosis and shunt placement, and CH rather than OH led to improved postshunt survival (hazard ratio = 0.24-0.99; P = .01-.04).ConclusionVP shunting improves symptoms in most glioblastoma patients with suspected CH or OH, specifically younger patients. Symptomatic improvement, shorter duration between glioblastoma diagnosis and shunt placement, and CH rather than OH improve postshunt survival.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/98z75206Test

المؤلفون: Slavotinek, Anne, Kaylor, Julie, Pierce, Heather, Cahr, Michelle, DeWard, Stephanie J, Schneidman-Duhovny, Dina, Alsadah, Adnan, Salem, Fadi, Schmajuk, Gabriela, Mehta, Lakshmi

المصدر: American Journal of Human Genetics. 96(1)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Kidney Disease, Clinical Research, Genetics, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Renal and urogenital, Amniotic Fluid, Carrier Proteins, Child, Female, Fetus, Genetic Variation, Humans, Hydrocephalus, Male, Membrane Proteins, Nephrotic Syndrome, Phenotype, Pregnancy, Protein Structure, Secondary, alpha-Fetoproteins, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

الوصف: We report five fetuses and a child from three families who shared a phenotype comprising cerebral ventriculomegaly and echogenic kidneys with histopathological findings of congenital nephrosis. The presenting features were greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (AFAFP) levels or abnormalities visualized on ultrasound scan during the second trimester of pregnancy. Exome sequencing revealed deleterious sequence variants in Crumbs, Drosophila, Homolog of, 2 (CRB2) consistent with autosomal-recessive inheritance. Two fetuses with cerebral ventriculomegaly and renal microcysts were compound heterozygotes for p.Asn800Lys and p.Trp759Ter, one fetus with renal microcysts was a compound heterozygote for p.Glu643Ala and p.Asn800Lys, and one child with cerebral ventriculomegaly, periventricular heterotopias, echogenic kidneys, and renal failure was homozygous for p.Arg633Trp in CRB2. Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1). Loss of function for crb2b and nphs1 in Danio rerio were previously shown to result in loss of the slit diaphragms of the podocytes, leading to the hypothesis that nephrosis develops from an inability to develop a functional glomerular barrier. We conclude that the phenotype associated with CRB2 mutations is pleiotropic and that the condition is an important consideration in the evaluation of high MSAFP/AFAFP where a renal cause is suspected.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7943r1m9Test

المؤلفون: Vulto-van Silfhout, Anneke T, Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A, Hu, Hao, Bienek, Melanie, Vissers, Lisenka ELM, Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müsebeck, Jörg, Rump, Patrick, Mathijssen, Inge B, Avela, Kristiina, Somer, Mirja, Doagu, Fatma, Philips, Anju K, Rauch, Anita, Baumer, Alessandra, Voesenek, Krysta, Poirier, Karine, Vigneron, Jacqueline, Amram, Daniel, Odent, Sylvie, Nawara, Magdalena, Obersztyn, Ewa, Lenart, Jacek, Charzewska, Agnieszka, Lebrun, Nicolas, Fischer, Ute, Nillesen, Willy M, Yntema, Helger G, Järvelä, Irma, Ropers, Hans-Hilger, de Vries, Bert BA, Brunner, Han G, van Bokhoven, Hans, Raymond, F Lucy, Willemsen, Michèl AAP, Chelly, Jamel, Xiong, Yue, Barkovich, A James, Kalscheuer, Vera M, Kleefstra, Tjitske, de Brouwer, Arjan PM

المصدر: Human Mutation. 36(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Pediatric, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Brain, Cell Cycle Proteins, Cells, Cultured, Child, Child, Preschool, Cullin Proteins, Genetic Association Studies, HEK293 Cells, Humans, Infant, Male, Malformations of Cortical Development, Mental Retardation, X-Linked, Middle Aged, Nerve Tissue Proteins, Pedigree, Sequence Analysis, DNA, Young Adult, CUL4B, WDR62, cortical dysplasia, hydrocephalus, intellectual disability, mutation, Clinical Sciences, Genetics & Heredity, Clinical sciences

الوصف: Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7h5466vkTest

المؤلفون: Phung, Jennifer, Krogstad, Paul, Mathern, Gary W

المصدر: Journal of Neurosurgery Pediatrics. 12(5)

مصطلحات موضوعية: Pediatric, Hydrocephalus, Brain Disorders, Neurosciences, Neurological, Adolescent, Brain Injuries, Brain Neoplasms, Cerebral Infarction, Cerebrospinal Fluid, Cerebrospinal Fluid Shunts, Child, Child, Preschool, Encephalitis, Epilepsy, Erythrocyte Count, Female, Hemispherectomy, Humans, Male, Malformations of Cortical Development, Multivariate Analysis, Retrospective Studies, Sensitivity and Specificity, Sturge-Weber Syndrome, cerebral hemispherectomy, epilepsy surgery, hemimegalencephaly, cortical dysplasia, Rasmussen encephalitis, Paediatrics and Reproductive Medicine, Neurology & Neurosurgery

الوصف: ObjectThe authors sought to determine if clinical epilepsy variables, maximum daily temperature (Tmax), and blood and CSF findings were associated with the risk of developing hydrocephalus after first-time resection-disconnection hemispherectomy.MethodsPatients who underwent cerebral hemispherectomy in whom a standardized perioperative protocol was used, including the use of ventriculostomies (n = 79), were classified into those who developed and those who did not develop hydrocephalus requiring CSF shunts. The authors compared these 2 groups for clinical variables, Tmax, and blood and CSF studies through postoperative Day 12.ResultsIn this cohort, 30% of the patients required CSF shunts, of which 8% developed late hydrocephalus up to 3 years posthemispherectomy. Multivariate analysis found that etiology was associated with developing posthemispherectomy hydrocephalus. Higher shunt rates were observed for patients with hemimegalencephaly (40%; n = 15) and a history of CNS infection (100%; n = 4) compared with cortical dysplasia (17%; n = 23) and Rasmussen encephalitis (17%; n = 12). In univariate analysis, other factors associated with developing hydrocephalus were elevated maximum daily temperatures, elevated white blood cell counts, decreased CSF protein, and increased CSF red blood cell counts.ConclusionsThe findings of the study indicate that etiology was the factor most strongly associated with developing posthemispherectomy hydrocephalus. These findings suggest that there are variable mechanisms for developing hydrocephalus after cerebral hemispherectomy depending on the procedure, and in resection-disconnection operations the mechanism may involve changes in CSF bulk flow that varies by histopathology.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4t15x10wTest

المؤلفون: Phung, Jennifer, Krogstad, Paul, Mathern, Gary W

المصدر: Journal of neurosurgery. Pediatrics. 12(5)

مصطلحات موضوعية: Cerebrospinal Fluid, Humans, Encephalitis, Sturge-Weber Syndrome, Brain Neoplasms, Brain Injuries, Cerebral Infarction, Epilepsy, Hydrocephalus, Erythrocyte Count, Cerebrospinal Fluid Shunts, Hemispherectomy, Multivariate Analysis, Sensitivity and Specificity, Retrospective Studies, Adolescent, Child, Child, Preschool, Female, Male, Malformations of Cortical Development, cerebral hemispherectomy, epilepsy surgery, hemimegalencephaly, cortical dysplasia, Rasmussen encephalitis, Preschool, Neurology & Neurosurgery, Paediatrics and Reproductive Medicine

الوصف: ObjectThe authors sought to determine if clinical epilepsy variables, maximum daily temperature (Tmax), and blood and CSF findings were associated with the risk of developing hydrocephalus after first-time resection-disconnection hemispherectomy.MethodsPatients who underwent cerebral hemispherectomy in whom a standardized perioperative protocol was used, including the use of ventriculostomies (n = 79), were classified into those who developed and those who did not develop hydrocephalus requiring CSF shunts. The authors compared these 2 groups for clinical variables, Tmax, and blood and CSF studies through postoperative Day 12.ResultsIn this cohort, 30% of the patients required CSF shunts, of which 8% developed late hydrocephalus up to 3 years posthemispherectomy. Multivariate analysis found that etiology was associated with developing posthemispherectomy hydrocephalus. Higher shunt rates were observed for patients with hemimegalencephaly (40%; n = 15) and a history of CNS infection (100%; n = 4) compared with cortical dysplasia (17%; n = 23) and Rasmussen encephalitis (17%; n = 12). In univariate analysis, other factors associated with developing hydrocephalus were elevated maximum daily temperatures, elevated white blood cell counts, decreased CSF protein, and increased CSF red blood cell counts.ConclusionsThe findings of the study indicate that etiology was the factor most strongly associated with developing posthemispherectomy hydrocephalus. These findings suggest that there are variable mechanisms for developing hydrocephalus after cerebral hemispherectomy depending on the procedure, and in resection-disconnection operations the mechanism may involve changes in CSF bulk flow that varies by histopathology.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4t15x10wTest

المؤلفون: Shen, Mark D, Nordahl, Christine W, Young, Gregory S, Wootton-Gorges, Sandra L, Lee, Aaron, Liston, Sarah E, Harrington, Kayla R, Ozonoff, Sally, Amaral, David G

المصدر: Brain. 136(9)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Psychology, Intellectual and Developmental Disabilities (IDD), Biomedical Imaging, Prevention, Mental Health, Neurosciences, Pediatric, Clinical Research, Brain Disorders, Autism, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Mental health, Age Factors, Brain, Child Development Disorders, Pervasive, Child, Preschool, Developmental Disabilities, Female, Functional Laterality, Head, Humans, Image Processing, Computer-Assisted, Infant, Longitudinal Studies, Magnetic Resonance Imaging, Male, Time Factors, autism, magnetic resonance imaging, infant brain development, cerebrospinal fluid, external hydrocephalus, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences

الوصف: Prospective studies of infants at risk for autism spectrum disorder have provided important clues about the early behavioural symptoms of autism spectrum disorder. Diagnosis of autism spectrum disorder, however, is not currently made until at least 18 months of age. There is substantially less research on potential brain-based differences in the period between 6 and 12 months of age. Our objective in the current study was to use magnetic resonance imaging to identify any consistently observable brain anomalies in 6-9 month old infants who would later develop autism spectrum disorder. We conducted a prospective infant sibling study with longitudinal magnetic resonance imaging scans at three time points (6-9, 12-15, and 18-24 months of age), in conjunction with intensive behavioural assessments. Fifty-five infants (33 'high-risk' infants having an older sibling with autism spectrum disorder and 22 'low-risk' infants having no relatives with autism spectrum disorder) were imaged at 6-9 months; 43 of these (27 high-risk and 16 low-risk) were imaged at 12-15 months; and 42 (26 high-risk and 16 low-risk) were imaged again at 18-24 months. Infants were classified as meeting criteria for autism spectrum disorder, other developmental delays, or typical development at 24 months or later (mean age at outcome: 32.5 months). Compared with the other two groups, infants who developed autism spectrum disorder (n = 10) had significantly greater extra-axial fluid at 6-9 months, which persisted and remained elevated at 12-15 and 18-24 months. Extra-axial fluid is characterized by excessive cerebrospinal fluid in the subarachnoid space, particularly over the frontal lobes. The amount of extra-axial fluid detected as early as 6 months was predictive of more severe autism spectrum disorder symptoms at the time of outcome. Infants who developed autism spectrum disorder also had significantly larger total cerebral volumes at both 12-15 and 18-24 months of age. This is the first magnetic resonance imaging study to prospectively evaluate brain growth trajectories from infancy in children who develop autism spectrum disorder. The presence of excessive extra-axial fluid detected as early as 6 months and the lack of resolution by 24 months is a hitherto unreported brain anomaly in infants who later develop autism spectrum disorder. This is also the first magnetic resonance imaging evidence of brain enlargement in autism before age 2. These findings raise the potential for the use of structural magnetic resonance imaging to aid in the early detection of children at risk for autism spectrum disorder or other neurodevelopmental disorders.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/67q5n5dkTest

المؤلفون: Yoon, Michael K, Parsa, Andrew T, Horton, Jonathan C

المصدر: Journal of Neurosurgery Pediatrics. 11(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Physical Injury - Accidents and Adverse Effects, Neurosciences, Brain Disorders, Traumatic Head and Spine Injury, Dental/Oral and Craniofacial Disease, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Adult, Brain Injuries, Child, Chronic Disease, Disease Progression, Enophthalmos, Equipment Design, Humans, Intracranial Hypotension, Magnetic Resonance Imaging, Male, Paranasal Sinuses, Pneumocephalus, Sella Turcica, Skull, Tomography, X-Ray Computed, Ventriculoperitoneal Shunt, enophthalmos, ventriculoperitoneal shunt, cerebrospinal fluid, hydrocephalus, pneumocephalus, Sunken Eyes, Sagging Brain Syndrome, Paediatrics and Reproductive Medicine, Neurology & Neurosurgery, Paediatrics

الوصف: In children or young adults, the morphology of the skull can be altered by excessive drainage of CSF following placement of a ventriculoperitoneal (VP) shunt. In Sunken Eyes, Sagging Brain Syndrome, gradual enlargement of the orbital cavity occurs from low or negative intracranial pressure (ICP), leading to progressive bilateral enophthalmos. The authors report several heretofore unrecognized manifestations of this syndrome, which developed in a 29-year-old man with a history of VP shunt placement following a traumatic brain injury at the age of 9 years. Magnetic resonance imaging showed typical features of chronic intracranial hypotension, and lumbar puncture yielded an unrecordable subarachnoid opening pressure. The calvaria was twice its normal thickness, owing to contraction of the inner table. The paranasal sinuses were expanded, with aeration of the anterior clinoid processes, greater sphenoid wings, and temporal bones. The sella turcica showed a 50% reduction in cross-sectional area as compared with that in control subjects, resulting in partial extrusion of the pituitary gland. These new features broaden the spectrum of clinical findings associated with low ICP. Secondary installation of a valve to restore normal ICP is recommended to halt progression of these rare complications of VP shunt placement.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8633d0m9Test