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Journal of Medical Genetics Dec 1989We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular...
We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular supply and a normal but unopposed cerebrospinal fluid pressure.
Topics: Adult; Brain Diseases; Cysts; Diagnosis, Differential; Facial Expression; Humans; Male; Osteosclerosis; Syndrome
PubMed: 2614800
DOI: 10.1136/jmg.26.12.782 -
Frontiers in Veterinary Science 2023Porencephaly is defined as a fluid-filled cavity of variable size in the brain cortex. It is regarded as a congenital condition and is typically considered a...
INTRODUCTION
Porencephaly is defined as a fluid-filled cavity of variable size in the brain cortex. It is regarded as a congenital condition and is typically considered a developmental or an encephaloclastic defect. Our hypothesis is that postnatal traumatic events in the first few months of life may represent a cause of canine and feline porencephaly that is more common than generally suspected. The aims of this study were to retrospectively investigate porencephaly in a large population of dogs and cats, detect MRI features that might be useful to differentiate postnatal acquired traumatic forms from congenital/perinatal porencephaly, and define the prevalence of seizure activity in porencephalic patients.
MATERIALS AND METHODS
This is a double-center, descriptive, retrospective case series. Databases were searched for cases within a 17-year time span that involve dogs and cats with an MRI-based diagnosis of cerebral cavitary lesions. Animals were included if a complete signalment and an exhaustive MRI of the brain were available. Besides the porencephalic lesions, MRIs of the head were reviewed to detect concomitant musculoskeletal abnormalities.
RESULTS
Thirty-two cases involving nine cats and twenty-three dogs were selected. Of all the cases, 21.9% were aged six years or older at the time of diagnosis. All patients in which the neuroanatomical localization was available showed clinical signs of a prosencephalic disorder. Epileptic seizures were observed in 71.8% of cases. A single porencephalic cavity was found in 78.1% of cases. The most affected cerebral lobe was the parietal lobe ( = 20). The defects involved both the grey and white matter in 78.1% of cases. Twenty cases showed concomitant musculoskeletal abnormalities overlying the porencephalic cavities. Fourteen of twenty cases showed evidence of fractures, of which thirteen showed depression of the calvarium and twelve masticatory muscle abnormalities. Of these, seven of fourteen had a history consistent with a head trauma in the first period of life.
CONCLUSION
The recognition of skull fractures and muscular abnormalities closely associated with the porencephalic cavity may support a diagnosis of a postnatal traumatic origin of porencephaly. Therefore, this study highlights the importance of evaluating musculoskeletal structures in the MRIs of the heads of porencephalic cases.
PubMed: 38125680
DOI: 10.3389/fvets.2023.1302399 -
American Journal of Medical Genetics.... Sep 2021Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex,...
Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co-twins with abnormal brain imaging and compared them to population-based data and to a literature series. We separated our series into malformations of cortical development (MCD, N = 39), cerebellar malformations without MCD (N = 13), and brain disruptions (N = 11). The MCD group included 37/39 (95%) with polymicrogyria (PMG), 8/39 (21%) with pia-ependymal clefts (schizencephaly), and 15/39 (38%) with periventricular nodular heterotopia (PNH) including 2 with PNH but not PMG. Cerebellar malformations were found in 19 individuals including 13 with a cerebellar malformation only and another 6 with cerebellar malformation and MCD. The pattern varied from diffuse cerebellar hypoplasia to classic Dandy-Walker malformation. Brain disruptions were seen in 11 individuals with hydranencephaly, porencephaly, or white matter loss without cysts. Our series included an expected statistically significant excess of monozygotic (MZ) twin pairs (22/41 MZ, 54%) compared to population data (482/1448 MZ, 33.3%; p = .0110), and an unexpected statistically significant excess of dizygotic (DZ) twins (19/41, 46%) compared to the literature cohort (1/46 DZ, 2%; p < .0001. Recurrent association with twin-twin transfusion syndrome, intrauterine growth retardation, and other prenatal factors support disruption of vascular perfusion as the most likely unifying cause.
Topics: Adult; Brain; Diseases in Twins; Female; Humans; Infant, Newborn; Male; Pregnancy; Review Literature as Topic; Twins, Dizygotic; Twins, Monozygotic
PubMed: 33205886
DOI: 10.1002/ajmg.a.61972 -
Journal of Critical Care Medicine... Apr 2019Patient-controlled analgesia with morphine is routinely used for postoperative pain management. Due to the safety profiles of the technique, which are patient/disease...
INTRODUCTION
Patient-controlled analgesia with morphine is routinely used for postoperative pain management. Due to the safety profiles of the technique, which are patient/disease related or technique/equipment related, severe respiratory depression requiring opioid antagonists or airway management are uncommon.
CASE PRESENTATION
The case of a patient with right colon carcinoma who was operated on for hemicolectomy under general anaesthesia and who presented with apnoea, after postoperatively receiving an initial bolus of 1mg of morphine. A large post-traumatic porencephalic cyst of the left brain hemisphere, previously undiagnosed, was found on the computed tomography scan. We excluded human errors, technique and equipment factors, and the patient did not have any other predisposing conditions like sleep apnoea, obesity, recent head injury or concurrent use of other sedatives. Previously the patient had been entirely asymptomatic, and her increased susceptibility to respiratory depression was the only clinical manifestation of porencephaly.
CONCLUSION
Adult acquired porencephaly is seldom reported in the literature, clinical manifestations depending on the location and size of the cyst. In the present reported case, increased susceptibility to low-dose opioids might be associated with the structural and functional reorganisation of the brain after head trauma with the occurrence of the porencephalic cyst of the brain.
PubMed: 31161144
DOI: 10.2478/jccm-2019-0011 -
PloS One 2020Optic nerve hypoplasia (ONH) is a congenital malformation with a reduced number of retinal ganglion cell axons in a thin optic nerve. It is a common cause of visual...
Optic nerve hypoplasia (ONH) is a congenital malformation with a reduced number of retinal ganglion cell axons in a thin optic nerve. It is a common cause of visual impairment in children and ONH is associated with neurodevelopmental disorders, pituitary hormone deficiencies, and brain malformations. In most cases, the aetiology is unknown, but both environmental factors and genetic causes have been described. This study aimed to identify genetic variants underlying ONH in a well-characterised cohort of individuals with ONH. We performed array comparative genomic hybridization and whole genome sequencing in 29 individuals with ONH. Rare variants were verified by Sanger sequencing and inheritance was assessed in parental samples. We identified 11 rare single nucleotide variants (SNVs) in ten individuals, including a homozygous variant in KIF7 (previously associated with Joubert syndrome), a heterozygous de novo variant in COL4A1 (previously described in an individual with porencephaly), and a homozygous variant in COL4A2. In addition, one individual harboured a heterozygous variant in OPA1 and a heterozygous variant in COL4A1, both were inherited and assessed as variants of unknown clinical significance. Finally, a heterozygous deletion of 341 kb involving exons 7-18 of SOX5 (associated with Lamb-Schaffer syndrome) was identified in one individual. The overall diagnostic yield of pathogenic or likely pathogenic variants in individuals with ONH using whole genome sequencing was 4/29 (14%). Our results show that there is a genetic heterogeneity in ONH and indicate that genetic causes of ONH are not rare. We conclude that genetic testing is valuable in a substantial proportion of the individuals with ONH, especially in cases with non-isolated ONH.
Topics: Adolescent; Adult; Child; Comparative Genomic Hybridization; Cross-Sectional Studies; Exons; Female; Genetic Heterogeneity; Genetic Testing; Genome, Human; Heterozygote; Humans; Male; Optic Nerve; Optic Nerve Hypoplasia; Pedigree; Phenotype; Polymorphism, Single Nucleotide; Retinal Ganglion Cells; SOXD Transcription Factors; Sweden; Whole Genome Sequencing; Young Adult
PubMed: 32040484
DOI: 10.1371/journal.pone.0228622 -
BMC Veterinary Research Dec 2012Seizures are a common problem in small animal neurology and it may be related to underlying diseases. Porencephaly is an extremely rare disorder, and in Veterinary...
BACKGROUND
Seizures are a common problem in small animal neurology and it may be related to underlying diseases. Porencephaly is an extremely rare disorder, and in Veterinary Medicine it affects more often ruminants, with only few reports in dogs.
CASE PRESENTATION
A one-year-old intact male Shih-Tzu dog was referred to Veterinary University Hospital with history of abnormal gait and generalized tonic-clonic seizures. Signs included hypermetria, abnormal nystagmus and increased myotatic reflexes. At necropsy, during the brain analysis, a cleft was observed in the left parietal and occipital lobes, creating a communication between the subarachnoid space and the left lateral ventricle, consistent with porencephaly; and also a focal atrophy of the caudal paravermal and vermal portions of the cerebellum. Furthermore, the histological examination showed cortical and cerebellar neuronal dysplasia.
CONCLUSIONS
Reports of seizures due to porencephaly are rare in dogs. In this case, the dog presented a group of brain abnormalities which per se or in assemblage could result in seizure manifestation.
Topics: Animals; Brain Diseases; Dog Diseases; Dogs; Male; Malformations of Cortical Development; Seizures
PubMed: 23269021
DOI: 10.1186/1746-6148-8-246 -
Diagnostic Pathology Nov 2014The present study describes the pathologic changes in the brain and the spinal cord of aborted, stillbirth and deformities of newborn lambs infected with viral agents.
BACKGROUND
The present study describes the pathologic changes in the brain and the spinal cord of aborted, stillbirth and deformities of newborn lambs infected with viral agents.
METHODS
From February 2012 to March 2013, a total of 650 aborted fetuses from 793 pregnant ewes were studied from 8 flocks at different areas in the Mazandaran province in the north of Iran. And randomly, systematic necropsy was performed to collect tissues, and all gross abnormalities were recorded at necropsy by the pathologist .Nevertheless, we conducted a limited number of necropsies for aborted fetuses.
RESULTS
In the most cases, arthrogryposis was the most common musculoskeletal defects and at necropsy, malformations of the brain included hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, mainly in the brain stem and gray and white matter of the brain and cerebellum were observed. Histopathologic lesions included chronic multifocal lymphoplasmacytic encephalitis(nonsuppurative) with extensive perivascular cuffing in some cases, formation of glial nodules mainly in the mesencephalon, thalamus, hippocampus, pons and medulla oblongata in the brain of aborted fetuses, and neuronal degeneration, necrosis and central chromatolysis mainly in the cortex and subcortical of the brain and brain stem regions of them. Furthermore, microscopic lesions are mostly linked to a neurodegenerative and necrotic cell death process in the gray matter of ventral horn of the spinal cord. Briefly, histopathologic findings in the brain and spinal cord included hyperemia, hemorrhage, non-suppurative encephalitis, mononuclear perivascular cuffing, multifocal gliosis, cavitation, central chromatolysis, neuronal degeneration and necrosis, perineuronal and perivascular edema in the all regions of the brain and acute neuronal necrosis in the gray matter of ventral horn of the spinal cord were also seen.
CONCLUSION
Our study suggested that the sheep fetuses are fully susceptible to viral infections and may even develop neurolopathological lesions upon natural infection with mentioned pathogens .Therefore ,according to,specific lesions caused by viral infections, we believe that the histopathological pattern were detected in this study could be associated with either viral infection and or mainly by a Bunyavirus / or Flavivirus strains that extensively shares common lesions with Rift Valley fever ,Wesselsbron ,Cache valley virus / or and Akabaneviruses.
VIRTUAL SLIDES
The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/13000_2014_223.
Topics: Abortion, Veterinary; Animals; Animals, Newborn; Brain; Bunyaviridae Infections; Female; Flavivirus Infections; Microscopy; Neuropathology; Pregnancy; Pregnancy Complications, Infectious; Sheep; Sheep Diseases; Spinal Cord; Stillbirth
PubMed: 25425524
DOI: 10.1186/s13000-014-0223-7 -
AJNR. American Journal of Neuroradiology Oct 2002Neonatal alloimmune thrombocytopenia (NAIT) is a maternal-fetal platelet antigen incompatibility disorder estimated to occur in one of 2000 to 5000 neonates. The...
BACKGROUND AND PURPOSE
Neonatal alloimmune thrombocytopenia (NAIT) is a maternal-fetal platelet antigen incompatibility disorder estimated to occur in one of 2000 to 5000 neonates. The diagnosis is made serologically by showing parental platelet antigen incompatibility and the presence of maternal platelet antibodies. In the absence of formalized antenatal screening, the radiologist has an important role to play in the recognition of this disorder, which has significant implications for the index case and any subsequent offspring. Our aim was to characterize the neuroradiologic findings and identify, if possible, a consistent pattern of neurologic injury typical of NAIT.
METHODS
We retrospectively reviewed the ultrasonograms, CT scans, MR images, and medical histories of six patients (21 weeks gestation to 9 years old) with intracranial injury secondary to serologically proved NAIT.
RESULTS
Hemispheric porencephalic cysts (n = 6), primarily located within a temporal lobe with extension into other lobes, were seen on the ultrasonograms, CT scans, and MR images of all six children. In five cases, this was thought to represent encephaloclastic porencephaly and, in one case, schizencephaly (agenetic porencephaly). Six children had ventriculomegaly of varying degrees and severity and asymmetry. Extra-axial hemorrhages (n = 2), intraventricular hemorrhage (n = 1), acute parenchymal hemorrhage (n = 2), and neuronal migrational disorder (n = 1) occurred with varying frequency.
CONCLUSION
Antenatal or early postnatal neuroradiologic imaging showing hemispheric porencephaly and lateral ventriculomegaly is a recognizable pattern of cerebral injury suggestive of the diagnosis of NAIT. In the absence of a cost-effective screening program of primiparous women and neonates for this disease, the radiologist has an important role to play in the recognition of this disease entity. It is crucial for the reporting radiologist to consider the possibility of NAIT in any child with antenatal hemorrhage and, more importantly, with the pattern of cerebral injury described above. Because a high percentage of subsequent pregnancies might be equally or more severely affected, antenatal management directed at preventing intracranial hemorrhages in utero has become of significant clinical importance.
Topics: Antigens, Human Platelet; Brain; Cerebral Ventricles; Child; Child, Preschool; Echoencephalography; Female; Gestational Age; Humans; Infant; Infant, Newborn; Isoantibodies; Magnetic Resonance Imaging; Male; Maternal-Fetal Exchange; Pregnancy; Retrospective Studies; Thrombocytopenia; Tomography, X-Ray Computed
PubMed: 12372732
DOI: No ID Found -
Neurologia Medico-chirurgica Apr 1989A case of porencephaly in a 33-year-old male is presented. The patient exhibited right hemiparesis and generalized seizures. Computed tomography and, subsequently,...
A case of porencephaly in a 33-year-old male is presented. The patient exhibited right hemiparesis and generalized seizures. Computed tomography and, subsequently, craniotomy revealed a cerebral defect in the left parietal lobe, which communicated with the lateral ventricle. On angiography and at surgery, the cortical branches of the middle cerebral artery were found to be stretched over the surface of the cyst. Histopathological examination showed the outer membrane of the cyst to consist of arachnoid, subarachnoid space, vessels, pia mater, and a layer of degenerative brain tissue on histology. The diagnosis of porencephaly and its differentiation from arachnoid cyst are discussed.
Topics: Adult; Arachnoid; Brain Diseases; Cerebral Angiography; Cerebral Ventricles; Cysts; Diagnosis, Differential; Humans; Male; Parietal Lobe; Tomography, X-Ray Computed
PubMed: 2478920
DOI: 10.2176/nmc.29.347 -
AJNR. American Journal of Neuroradiology Jan 1998We determined the frequency of amygdalar-hippocampal atrophy in patients with congenital porencephaly-related seizure disorders to ascertain whether specific MR features...
PURPOSE
We determined the frequency of amygdalar-hippocampal atrophy in patients with congenital porencephaly-related seizure disorders to ascertain whether specific MR features of the porencephaly correlate with amygdalar-hippocampal atrophy and epilepsy.
METHODS
We studied brain MR images of 22 patients with congenital porencephaly and measured the volume of the amygdala, the hippocampal formation, and the porencephalic cyst. We then compared imaging features with seizure symptoms.
RESULTS
Porencephaly was unilateral in 20 patients and bilateral in two. Eighteen patients had cortical or subcortical cavitation and four had encephaloclastic changes (noncircumscribed parenchymal destruction associated with cystic components). The porencephaly was located in the middle cerebral artery territory in 12 patients, in the posterior cerebral artery in four, in the internal carotid artery in two, and in multiple vessels in four. The volume of the porencephalic cyst ranged from 1% to 32% of total intracranial volume (mean, 11%). Volumetry detected atrophy of the hippocampal formation in 21 cases (11 unilateral, 10 bilateral) and atrophy of the amygdala in 12 (nine unilateral, three bilateral). No correlation was found between size or location of the porencephaly and degree of hippocampal atrophy. Seizure symptoms correlated with mesial temporal origin but not with cyst location.
CONCLUSION
Amygdalar-hippocampal atrophy often coexists with congenital porencephaly (95%), and the atrophy may be bilateral despite unilateral cysts. Hippocampal structures should be carefully assessed in patients with porencephaly-related seizures.
Topics: Adolescent; Adult; Amygdala; Atrophy; Brain; Child; Child, Preschool; Congenital Abnormalities; Cysts; Epilepsy; Female; Hippocampus; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Sclerosis
PubMed: 9432171
DOI: No ID Found