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European Journal of Ophthalmology 2012To report a porencephalic cyst in a child with large optic disc cup but normal-sized discs.
PURPOSE
To report a porencephalic cyst in a child with large optic disc cup but normal-sized discs.
METHODS
Case report with figures.
RESULTS
Clinical findings of a patient with porencephaly presenting with large cups in normal-sized optic discs are discussed.
CONCLUSIONS
Optic disc morphology is not a reliable indicator of the timing of ischemic brain injury. Intracranial pathology should be suspected in children with disc cupping but no other features of glaucoma.
Topics: Brain Diseases; Child; Collagen Type IV; Female; Hemianopsia; Hemiplegia; Humans; Magnetic Resonance Imaging; Optic Disk; Optic Nerve Diseases; Porencephaly; Visual Field Tests; Visual Fields
PubMed: 22427149
DOI: 10.5301/ejo.5000142 -
Journal of Neuropathology and... Sep 2021
Topics: Adult; Collagen Type IV; Female; Humans; Intracranial Hemorrhages; Mutation; Porencephaly; Pregnancy; Ultrasonography, Prenatal
PubMed: 33846711
DOI: 10.1093/jnen/nlab026 -
Journal of Clinical and Diagnostic... Nov 2014A 2-day-old male child presented with history of enlarged head and seizures since birth, born by caesarean section. Head circumference was 56 cm (dilated) with widely...
A 2-day-old male child presented with history of enlarged head and seizures since birth, born by caesarean section. Head circumference was 56 cm (dilated) with widely open anterior and posterior fontanelle. Routine investigations were within normal limits. CT head revealed a large non-enhancing fluid attenuating cystic lesion in posterior parietal and occipital region with communicating to dilated bilateral lateral ventricles and subarachnoid space.
PubMed: 25584288
DOI: 10.7860/JCDR/2014/9981.5140 -
Neurologia Medico-chirurgica Mar 1991An unusual case of posttraumatic porencephaly preceded by neither overt cerebral contusion nor hemorrhage is reported. The cerebral cortex just above the porencephalic...
An unusual case of posttraumatic porencephaly preceded by neither overt cerebral contusion nor hemorrhage is reported. The cerebral cortex just above the porencephalic cyst was found intra-operatively to be partially herniated into a fracture line, while the cortex elsewhere was completely intact. The porencephalic cyst communicated with the lateral ventricle. Apparently, brain herniation and the cyst-ventricle communication can be causative factors in the occurrence and growth of posttraumatic porencephaly.
Topics: Adult; Brain Diseases; Cerebral Ventriculography; Craniocerebral Trauma; Cysts; Humans; Male; Time Factors; Tomography, X-Ray Computed
PubMed: 1715054
DOI: 10.2176/nmc.31.169 -
Veterinary Radiology & Ultrasound : the... 2009
Topics: Animals; Brain; Cattle; Female; Radiography
PubMed: 19507395
DOI: 10.1111/j.1740-8261.2009.01538.x -
Journal of Child Neurology Jul 1987Encephalocraniocutaneous lipomatosis is a distinct clinical syndrome characterized by unilateral cerebral malformations and ipsilateral scalp, face, and eye lesions. The...
Encephalocraniocutaneous lipomatosis is a distinct clinical syndrome characterized by unilateral cerebral malformations and ipsilateral scalp, face, and eye lesions. The cutaneous lesions are confined to the head. The central nervous system lesions consist in part of cerebral hemiatrophy, porencephaly, and defective opercularization of the insula. The intracranial lesions and clinical symptomatology are progressive, and appear, in part, to have a vascular pathogenesis. This suggests that a primary defect in the formation of tissues derived from embryonic mesenchyme may be responsible for the syndrome and that tissues derived from ectoderm may be secondarily affected.
Topics: Adolescent; Brain Neoplasms; Cerebral Angiography; Eye Neoplasms; Facial Neoplasms; Female; Humans; Infant; Lipomatosis; Male; Scalp; Sclera; Skin Neoplasms; Syndrome; Tomography, X-Ray Computed
PubMed: 3611632
DOI: 10.1177/088307388700200303 -
Neurology. Genetics Apr 2021We describe a third patient with brain small vessel disease 3 (BSVD3), being the first with a homozygous essential splice site variant in the gene, with a more severe...
OBJECTIVE
We describe a third patient with brain small vessel disease 3 (BSVD3), being the first with a homozygous essential splice site variant in the gene, with a more severe phenotype than the 2 children reported earlier.
METHODS
Analysis of whole exome sequencing (WES) data of the child and parents was performed. We validated the missplicing of the homozygous variant using reverse transcription PCR and Sanger sequencing of the mRNA in a lymphocyte culture.
RESULTS
The patient presented antenatally with porencephaly on ultrasound and MRI. Postnatally, he showed a severe developmental delay, refractory epilepsy, spastic quadriplegia, and a progressive hydrocephalus. WES revealed a homozygous canonical splice site variant NM_024656.3:c.625-2A>C. PCR and Sanger sequencing of the mRNA demonstrated that 2 cryptic splice sites are activated, causing a frameshift in the major transcript and in-frame deletion in a minor transcript.
CONCLUSIONS
We report a third patient with biallelic pathogenic variants in , confirming the role of this gene in autosomal recessive BSVD3.
PubMed: 33709034
DOI: 10.1212/NXG.0000000000000564 -
Ugeskrift For Laeger Jan 1952
Topics: Brain Diseases; Brain Neoplasms; Cerebral Cortex; Disease; Humans; Porencephaly
PubMed: 14931660
DOI: No ID Found -
Klinische Padiatrie 1990Schizencephaly is a developmental disorder of the human brain caused by a defect of neuronal migration. We observed a 7 month old african boy suffering from nystagmus...
Schizencephaly is a developmental disorder of the human brain caused by a defect of neuronal migration. We observed a 7 month old african boy suffering from nystagmus and hemiparesis. The neuroimaging reveals a large cleft in cortical and subcortical structures and typical changes of polymicrogyria. In the differential-diagnosis encephaloclastic porencephaly should be considered.
Topics: Agenesis of Corpus Callosum; Brain; Cerebral Cortex; Hemiplegia; Humans; Infant; Magnetic Resonance Imaging; Male; Nystagmus, Pathologic; Septum Pellucidum; Tomography, X-Ray Computed
PubMed: 2325349
DOI: 10.1055/s-2007-1025498 -
The Journal of Pediatrics Apr 1976
Topics: Brain Diseases; Cysts; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Pregnancy; Pregnancy in Diabetics
PubMed: 943493
DOI: 10.1016/s0022-3476(76)80016-9