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Archives of Neurology Sep 1983We studied familial porencephaly consistent with autosomal dominant or recessive inheritance in two families. The pathogenesis of the encephaloclastic and...
We studied familial porencephaly consistent with autosomal dominant or recessive inheritance in two families. The pathogenesis of the encephaloclastic and schizencephalic types was reviewed. Use of noninvasive neuroradiologic techniques, including computed tomography and ultrasonography, may help to delineate groups of children with smaller porencephalic cysts and to define further familial or genetic forms of this process.
Topics: Brain Diseases; Child; Child, Preschool; Cysts; Female; Humans; Male; Pedigree; Tomography, X-Ray Computed
PubMed: 6615288
DOI: 10.1001/archneur.1983.04050080067013 -
Clinical Genetics Nov 1990
Topics: Adult; Brain; Brain Diseases; Cerebral Ventricles; Chromosome Aberrations; Chromosome Disorders; Cysts; Female; Genes, Dominant; Genetic Counseling; Hemiplegia; Humans; Male; Middle Aged; Pregnancy
PubMed: 2282721
DOI: No ID Found -
Indian Journal of Pediatrics 1993
Topics: Adolescent; Brain; Brain Diseases; Cerebral Cortex; Cerebral Ventricles; Child; Cysts; Female; Hemiplegia; Humans; Intellectual Disability; Male; Neurologic Examination; Tomography, X-Ray Computed
PubMed: 8253500
DOI: 10.1007/BF02751216 -
Ryoikibetsu Shokogun Shirizu 2000
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Revista de Neurologia May 2011
Topics: Brain; Brain Diseases; Collagen Type IV; Hemiplegia; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development; Porencephaly
PubMed: 21488010
DOI: No ID Found -
Cureus Nov 2021Pediatric convulsive seizure is common and represents a source of major concern and anxiety for the parents. Seizures can have a broad spectrum of etiologies in...
Pediatric convulsive seizure is common and represents a source of major concern and anxiety for the parents. Seizures can have a broad spectrum of etiologies in children, including metabolic, traumatic, developmental, and infectious causes. Depending on the clinical presentation, laboratory testing and neuroimaging may be indicated in the workup of the first unprovoked afebrile seizure. We present a case of a six-year-old boy who was brought to the emergency department by his mother after an episode of convulsion. She reported that he had jerky repetitive movements of all extremities that lasted around two minutes with spontaneous termination. The child did not have a febrile illness. The mother reported no history of similar episodes. Upon examination, the child appeared alert and conscious. No dysmorphic features were evident. Initial laboratory investigations were within the normal limits. The child underwent magnetic resonance imaging for the brain, which demonstrated a large well-defined extra-axial cystic lesion occupying most of the left hemisphere that is connected to the ventricular system. The lesion had no grey-matter lining and it strictly followed the cerebrospinal fluid in all sequences. Such finding represented the diagnosis of a giant left porencephalic cyst. Porencephaly is an extremely rare neurological anomaly that may present with pediatric seizures. Magnetic resonance imaging is the gold standard modality for the diagnosis of porencephaly. The case demonstrated that porencephaly can have a massive size in a patient with normal psychoneurological development.
PubMed: 34926080
DOI: 10.7759/cureus.19623 -
Anales de Cirugia 1952
Topics: Brain; Brain Diseases; Central Nervous System Cysts; Humans; Nervous System Malformations; Porencephaly
PubMed: 13031127
DOI: No ID Found -
Journal de Medecine de Bordeaux Et Du... Nov 1950
Topics: Brain Diseases; Brain Neoplasms; Central Nervous System Cysts; Humans; Porencephaly; Radiography
PubMed: 14803884
DOI: No ID Found -
Cureus Apr 2022
PubMed: 35463569
DOI: 10.7759/cureus.x19 -
Pediatric Neurology Jan 2016No population-based surveys of porencephaly, schizencephaly, and hydranencephaly have been conducted in Japan or other Asian countries. We performed a neuroepidemiologic...
BACKGROUND
No population-based surveys of porencephaly, schizencephaly, and hydranencephaly have been conducted in Japan or other Asian countries. We performed a neuroepidemiologic analysis to elucidate the incidence of porencephaly, schizencephaly, and hydranencephaly in Miyagi prefecture, Japan, during 2007-2011.
METHODS
We sent inquiry forms in February 2012 to three neonatal intensive care units, 25 divisions of orthopedic surgery in municipal hospitals, 33 divisions of pediatrics including one university hospital, municipal hospitals, pediatric practitioners, and institutions for physically handicapped children located in Miyagi prefecture. These covered all clinics related to pediatric neurology and orthopedic surgery in Miyagi prefecture. In the inquiry, diagnostic criteria for porencephaly, schizencephaly, and hydranencephaly were described and representative images of magnetic resonance imaging were shown. We obtained an 82% (27 of 33) response rate from the divisions of pediatrics, a 100% (3 of 3) response rate from the neonatal intensive care units, and a 68% (17 of 25) response rate from orthopedic surgery clinics. The magnetic resonance imaging scans of each patient were retrieved and inspected.
RESULTS
Five, one, and two individuals developed porencephaly, schizencephaly, and hydranencephaly, respectively. The estimated incidence rates of porencephaly, schizencephaly, and hydranencephaly were 5.2 (95% confidence interval [CI], 0.6-9.8), 1.0 (95% CI, 0.0-3.1), and 2.1 (95% CI, 0.0-5.0) per 100,000 live births, respectively.
CONCLUSIONS
The prevalence rates of porencephaly, schizencephaly, and hydranencephaly at birth reported herein are compatible with results reported previously in the United States and European countries. The overall prevalence rate of these three diseases was 8.3 (95% CI, 2.6-14.1) per 100,000 live births.
Topics: Adult; Brain; Female; Humans; Hydranencephaly; Incidence; Japan; Magnetic Resonance Imaging; Male; Porencephaly; Prevalence; Schizencephaly; Young Adult
PubMed: 26545857
DOI: 10.1016/j.pediatrneurol.2015.08.016