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Acta Veterinaria Hungarica Jun 2023Congenital malformations occur sporadically in cattle; however, congenital structural and functional disorders of the nervous system are rather common in ruminants....
Congenital malformations occur sporadically in cattle; however, congenital structural and functional disorders of the nervous system are rather common in ruminants. Among the numerous causes of congenital nervous system defects, infectious agents are highlighted in this paper. Virus-induced congenital malformations are well known, among which those caused by bovine viral diarrhoea virus (BVDV), Akabane virus (AKAV), Schmallenberg virus (SBV), Bluetongue virus (BTV), and Aino virus (AV) are the most studied. In this study, we specify and categorise macroscopic and histopathological lesions in the brain of 42 newborn calves suffering from severe neurologic signs and diagnosed with BVDV and AKAV infection. Following a complete necropsy, specimens were collected from the brains to track the presence of BVDV, AKAV and SBV utilising reverse transcription polymerase chain reaction. Of the 42 examined calves, 21 were BVDV positive and 6 were AKAV positive, while 15 brains were negative for the studied agents. Regardless of the aetiology, cerebellar hypoplasia, hydranencephaly, hydrocephalus, porencephaly, and microencephaly were detected. Cerebellar hypoplasia was the most common lesion seen in both BVDV-positive and AKAV-positive cases. Virus-induced necrosis of the germinative cells of the external granular layer of cerebellum, as well as vascular damages, are believed to be the underlying causes of cerebellar hypoplasia. BVDV was the most important aetiological agent of such cases in this study.
Topics: Animals; Cattle; Animals, Newborn; Bunyaviridae Infections; Cerebellum; Ruminants; Diarrhea; Bovine Virus Diarrhea-Mucosal Disease
PubMed: 37104096
DOI: 10.1556/004.2023.00764 -
Ultrasound in Obstetrics & Gynecology :... Jul 2023
Topics: Female; Humans; Pregnancy; Porencephaly; Prenatal Diagnosis; Stroke
PubMed: 36722041
DOI: 10.1002/uog.26168 -
Clinical Neurology and Neurosurgery Feb 2023Dominant COL4A1 and COL4A2 mutations cause a broad spectrum of cerebrovascular diseases, whose onset varies from fetal to adult life, mostly represented by...
Dominant COL4A1 and COL4A2 mutations cause a broad spectrum of cerebrovascular diseases, whose onset varies from fetal to adult life, mostly represented by prenatal-neonatal intracerebral hemorrhage with porencephaly and by periventricular leukomalacia with calcifications, corresponding clinical diagnoses of cerebral palsy mimics. Axenfeld-Rieger syndrome with leukoencephalopathy, HANAC syndrome, young- and late-onset stroke and malformation of cortical development are rarer presentations. Very recently, the existence of recessive COL4A1- and COL4A2-related forms has been documented. We broaden the phenotypic and genotypic spectra of COL4A2-related disease by describing this second family with recessive pathogenic variants and neuroimaging phenotype of leukoencephalopathy with spot-like calcifications.
Topics: Pregnancy; Female; Humans; Collagen Type IV; Leukoencephalopathies; Cerebral Hemorrhage; Stroke; Porencephaly; Cerebrovascular Disorders; Mutation
PubMed: 36603335
DOI: 10.1016/j.clineuro.2022.107584 -
Diagnostics (Basel, Switzerland) Nov 2022(SC) is a species of belonging to the group, along with and . Despite its commensal nature, underlying risk factors and medical conditions might lead to various...
(SC) is a species of belonging to the group, along with and . Despite its commensal nature, underlying risk factors and medical conditions might lead to various anatomic site infections caused by this opportunistic pathogen. Although SC infections have mostly been associated with bacteremia, some case reports of abscess and empyema formation have been documented. Herein, we report a case of a middle-aged female patient who initially presented with radiculopathy symptoms. Subsequent neurologic imaging revealed a pyogenic abscess along paravertebral muscles, which was found to be caused by SC. The patient was successfully treated with abscess drainage from the lumbar zone and antibiotics, and the symptoms of radiculopathy have completely resolved.
PubMed: 36359529
DOI: 10.3390/diagnostics12112686 -
AJNR. American Journal of Neuroradiology Nov 2022The presence of malformations of cortical development in patients with hereditary hemorrhagic telangiectasia has been reported on previous occasions. We evaluated a...
BACKGROUND AND PURPOSE
The presence of malformations of cortical development in patients with hereditary hemorrhagic telangiectasia has been reported on previous occasions. We evaluated a sample of adults with hereditary hemorrhagic telangiectasia for the presence of malformations of cortical development, spatial coincidence of malformations of cortical development and AVMs, and the coincidence of brain and pulmonary AVMs.
MATERIALS AND METHODS
A total of 141 patients 18 years of age or older who were referred to the Augusta University hereditary hemorrhagic telangiectasia clinic and underwent brain MR imaging between January 19, 2018, and December 3, 2020, were identified. MR imaging examinations were reviewed retrospectively by 2 experienced neuroradiologists, and the presence of malformations of cortical development and AVMs was confirmed by consensus. Demographic and clinical information was collected for each case, including age, sex, hereditary hemorrhagic telangiectasia status by the Curacao Criteria, mutation type, presence of malformations of cortical development, presence of brain AVMs, presence of pulmonary AVMs, and a history of seizures or learning disabilities.
RESULTS
Five of 141 (3.5%) patients with hereditary hemorrhagic telangiectasia had malformations of cortical development. Two of the 5 patients with polymicrogyria also had closed-lip schizencephaly. One of the patients had a porencephalic cavity partially lined with heterotopic GM. The incidence of spatially coincident polymicrogyria and brain AVMs was 40% (2/5 cases). Of the patients with hereditary hemorrhagic telangiectasia and malformations of cortical development, 4/5 (80%) had pulmonary AVMs and 2/5 (40%) had brain AVMs.
CONCLUSIONS
To our knowledge, we are the first group to report the presence of schizencephaly in patients with hereditary hemorrhagic telangiectasia. The presence of schizencephaly and porencephaly lends support to the hypothesis of regional in utero cerebral hypoxic events as the etiology of malformations of cortical development in hereditary hemorrhagic telangiectasia.
Topics: Adult; Humans; Adolescent; Telangiectasia, Hereditary Hemorrhagic; Schizencephaly; Polymicrogyria; Retrospective Studies; Arteriovenous Malformations
PubMed: 36265891
DOI: 10.3174/ajnr.A7677 -
Radiology Case Reports Nov 2022In children at risk of neurological damage, such as those delivered prematurely or with history of birth asphyxia, cranial ultrasonography is frequently employed....
In children at risk of neurological damage, such as those delivered prematurely or with history of birth asphyxia, cranial ultrasonography is frequently employed. Cranial ultrasonography also detects cysts, asymmetrical ventricles, periventricular white matter echogenicity, and hemorrhage, among other features. We report the case of an 8-month-old boy who was brought to the emergency department with a history of head trauma followed by seizures. Bedside cranial ultrasonography revealed multiple bilateral intracranial cysts, consistent with porencephalic cysts. Brain magnetic resonance imaging is the gold standard for identifying porencephaly and distinguishing it from other cysts. However, because of time restrictions in emergencies, cranial ultrasonography for a quick assessment in neonates and infants can be appropriate, as was the case in our encounter.
PubMed: 36111183
DOI: 10.1016/j.radcr.2022.08.042 -
Frontiers in Pediatrics 2022During sepsis and septic shock, the host's immune systems generate an overwhelming and often, detrimental, inflammatory response. Part of this response results in...
INTRODUCTION
During sepsis and septic shock, the host's immune systems generate an overwhelming and often, detrimental, inflammatory response. Part of this response results in significant alterations in blood flow and vasomotor tone regulated in part by endothelial and vascular smooth muscle cells. Here, we report on a series of 3 pediatric patients for whom vascular response was assessed by laser doppler perfusion coupled to iontophoresis over the first 2 weeks after hospitalization for septic shock to demonstrate similarities and dissimilarities in the vascular response.
CASE PRESENTATIONS
A 12-year-old male with a history of Burkitt's Lymphoma, a 21-year-old male with congenital porencephaly and epilepsy, and a 7-year-old male with no significant past medical history all were admitted to a tertiary care children's hospital with a diagnosis of septic shock requiring vasoactive infusions to maintain mean arterial blood pressure. Non-invasive laser doppler perfusion coupled with iontophoresis of either acetylcholine (endothelial-dependent response) or sodium nitroprusside (endothelial-independent response) was performed on hospital days 1, 3, 7, and 14. Variability and heterogeneity were demonstrated by the temporal assessments of the vascular response to sodium nitroprusside, but all three patients showed significant similarity in the temporal responsiveness to acetylcholine.
CONCLUSION
Assessment of baseline and temporal responsiveness to endothelial-dependent vascular reactivity may provide a predictable timeline to the resolution of pediatric septic shock.
PubMed: 35935367
DOI: 10.3389/fped.2022.939886 -
Neurology India 2022
Topics: Brain; Brain Diseases; Cerebral Hemorrhage; Epilepsy; Humans; Porencephaly
PubMed: 35864714
DOI: 10.4103/0028-3886.349580 -
JFMS Open Reports 2022A 6-week-old entire female domestic shorthair cat was presented for evaluation of a soft bulge and a palpable skull defect on the forehead, present since adoption a few...
CASE SUMMARY
A 6-week-old entire female domestic shorthair cat was presented for evaluation of a soft bulge and a palpable skull defect on the forehead, present since adoption a few days earlier. The neurological examination revealed an absent menace response bilaterally and apparent blindness, localising the lesion to the occipital cortex. The main differential diagnoses were meningocoele (MC) and meningoencephalocoele (MEC). Surgical repair was proposed once the cat reached adult size. Meanwhile, the cat developed seizures and was treated with anticonvulsant therapy. At 6 months of age, CT confirmed a frontoparietal MEC with associated porencephaly. Based on a three-dimensional printed skull mould, a polysulfone implant was created. The meninges were dissected from the skin, a durectomy was performed and samples of the protruding brain were obtained. Part of the cerebrospinal fluid was drained until the size of the protruding brain decreased enough to be included below the implant that was anchored on top of the skull with cerclages. Histopathology confirmed the diagnosis of MEC. Three years and 7 months later, the cat had partially recovered vision but continued to seize monthly despite antiepileptic drugs.
RELEVANCE AND NOVEL INFORMATION
MC/MEC is a relatively uncommon disease reported in companion animals, and only four cases of surgical management have been described, and did not use a polysulfone tailor-made implant. In human medicine, surgical intervention is the treatment of choice. This case highlights a new implant option for surgical correction of MEC with good long-term result and no complications after 3 years and 7 months.
PubMed: 35693478
DOI: 10.1177/20551169221098940 -
Medicina (Kaunas, Lithuania) Apr 2022Porencephaly, a rare disease affecting the central nervous system, is represented by a cerebrospinal fluid-filled cavity in the brain. There are two types of... (Review)
Review
Porencephaly, a rare disease affecting the central nervous system, is represented by a cerebrospinal fluid-filled cavity in the brain. There are two types of porencephalic cavities: congenital and acquired. Porencephaly is mainly associated with neurological and developmental consequences. Associated psychotic symptoms were reported in a few cases, and due to this fact, there is a knowledge gap regarding the diagnostic and therapeutic approach to such cases. We present the case of a 32-year-old male diagnosed with a psychotic disorder associated with acquired porencephaly. The porencephalic cystic lesions were most probably due to a traumatic brain injury at the age of 6 years old. The psychotic symptomatology consisted of interoceptive/visceral hallucinations, delusions with persecutory and religious/magic content and disorganised behaviour. The porencephalic cavity was confirmed by a computed tomography scan. The patient was treated over the course of time with risperidone, olanzapine and zuclopenthixol. The existing literature regarding other cases of psychosis associated with porencephaly is discussed. In conclusion, even though porencephaly was asymptomatic for a long period of time, we argue that there is a causal relationship between the chronic psychotic symptoms and the porencephalic cyst in our case.
Topics: Adult; Brain; Brain Diseases; Child; Humans; Incidental Findings; Male; Porencephaly; Psychotic Disorders
PubMed: 35630003
DOI: 10.3390/medicina58050586