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Frontiers in Surgery 2024Porencephaly (POR) is an exceedingly rare neurological disorder characterized by the presence of solitary or multiple regressive cerebrospinal fluid (CSF) cavities...
Porencephaly (POR) is an exceedingly rare neurological disorder characterized by the presence of solitary or multiple regressive cerebrospinal fluid (CSF) cavities within the brain parenchyma. Currently, there is a limited understanding of the pathogenesis and treatment options for this condition, and clinical presentations can vary significantly. However, imaging plays a crucial role in diagnosis and determining the optimal treatment strategy, necessitating individualized comprehensive treatment upon detection. We reported a 25-year-old male case with persistent head pain that did not resolve with rest. Magnetic resonance imaging (MRI) confirmed the giant POR, and we finally performed a ventriculoperitoneal shunt, and the symptoms of intracranial hypertension were relieved after surgery.
PubMed: 38708364
DOI: 10.3389/fsurg.2024.1389050 -
Frontiers in Neurology 2020COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic...
COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. We describe here the phenotype of a likely pathogenic gene variant, p.Gly743Val, which is responsible for a missense mutation in the COL4A1 gene exon 30 in a three generation family with severe hypermetropia and highly penetrant porencephaly in the absence of systemic manifestations. This report highlights both the broad spectrum of COL4A1 mutations and the yield of testing the COL4A1 gene in familial ophthalmological and brain disorders.
PubMed: 33013618
DOI: 10.3389/fneur.2020.00827 -
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 -
The Canadian Veterinary Journal = La... Nov 2023A 16-month-old neutered male domestic shorthair cat weighing 2.7 kg was referred for further evaluation of acute generalized muscle weakness and paraparesis after a...
A 16-month-old neutered male domestic shorthair cat weighing 2.7 kg was referred for further evaluation of acute generalized muscle weakness and paraparesis after a long-standing history of polyuria-polydipsia. The diagnosis of hypodipsic/adipsic hypernatremia relied on the key findings of absent spontaneous drinking despite hypernatremia and a hyperosmolar state (444.8 mOsm/kg, reference interval 280 to 310 mOsm/kg). Brain MRI revealed severe multifocal anatomic anomalies of the rostral calvarium and the forebrain, suggestive of encephaloclastic porencephaly. Involvement of the thalamic and hypothalamic regions could have been responsible for the cat's adipsic hypernatremia. The unique aspects of this case were the rare description of central nervous system disease leading to hypodipsia, and the history of chronic polydipsia before the acute onset of hypodipsia. Key clinical message: Multifocal abnormalities of the forebrain can present with polyuria-polydipsia syndrome, hypodipsia/adipsia, or both, depending on the stage of the disease. This likely happens when the hypothalamic and thalamic regions are affected, since they regulate antidiuretic hormone release and thirst, respectively.
Topics: Male; Cats; Animals; Hypernatremia; Polyuria; Thirst; Polydipsia; Craniocerebral Trauma; Cat Diseases
PubMed: 37915774
DOI: No ID Found -
Journal of Veterinary Internal Medicine Mar 2017The term meningoencephalocele (MEC) describes a herniation of cerebral tissue and meninges through a defect in the cranium, whereas a meningocele (MC) is a herniation of...
BACKGROUND
The term meningoencephalocele (MEC) describes a herniation of cerebral tissue and meninges through a defect in the cranium, whereas a meningocele (MC) is a herniation of the meninges alone.
HYPOTHESIS/OBJECTIVES
To describe the clinical features, magnetic resonance imaging (MRI) characteristics, and outcomes of dogs with cranial MC and MEC.
ANIMALS
Twenty-two client-owned dogs diagnosed with cranial MC or MEC.
METHODS
Multicentric retrospective descriptive study. Clinical records of 13 institutions were reviewed. Signalment, clinical history, neurologic findings and MRI characteristics as well as treatment and outcome were recorded and evaluated.
RESULTS
Most affected dogs were presented at a young age (median, 6.5 months; range, 1 month - 8 years). The most common presenting complaints were seizures and behavioral abnormalities. Intranasal MEC was more common than parietal MC. Magnetic resonance imaging identified meningeal enhancement of the protruded tissue in 77% of the cases. Porencephaly was seen in all cases with parietal MC. Cerebrospinal fluid (CSF) analysis identified mild abnormalities in 4 of 11 cases. Surgery was not performed in any affected dog. Seventeen patients were treated medically, and seizures were adequately controlled with anti-epileptic drugs in 10 dogs. Dogs with intranasal MEC and mild neurologic signs had a fair prognosis with medical treatment.
CONCLUSION AND CLINICAL IMPORTANCE
Although uncommon, MC and MEC should be considered as a differential diagnosis in young dogs presenting with seizures or alterations in behavior. Medical treatment is a valid option with a fair prognosis when the neurologic signs are mild.
Topics: Animals; Anticonvulsants; Cerebrospinal Fluid; Dog Diseases; Dogs; Encephalocele; Female; Magnetic Resonance Imaging; Male; Meningocele; Porencephaly; Retrospective Studies; Seizures; Treatment Outcome
PubMed: 28247440
DOI: 10.1111/jvim.14638 -
Arquivos de Neuro-psiquiatria Sep 2000We report eight cases of hemiballism. Six patients had diabetes mellitus, one patient presented with porencephaly after cranial trauma and one patient had a...
We report eight cases of hemiballism. Six patients had diabetes mellitus, one patient presented with porencephaly after cranial trauma and one patient had a HIV-associated fungic granuloma (cryptococcus). In the diabetic group three patients had non-ketotic hyperglycemia; two of them with striatal hemorrhage, and the remaining three presented with an ischemic stroke. Hemichorea occurred in 75% of our patients, predominantly in the right side of the body. Six patients had good improvement with treatment with haloperidol and two patients had to undergo a thalamotomy, one of them with good results. In our series of eight patients with hemiballismus we observed an association with diabetes mellitus and stroke, and good clinical improvement.
Topics: Adolescent; Adult; Aged; Anti-Dyskinesia Agents; Diabetes Complications; Dyskinesias; Female; Haloperidol; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Tomography, X-Ray Computed
PubMed: 10973112
DOI: 10.1590/s0004-282x2000000400016 -
Medicine Jul 2020Foetal alcohol spectrum disorder (FASD) is a complex malformative disease caused by the teratogenic effect of alcohol consumed during pregnancy. Mothers are frequently...
INTRODUCTION
Foetal alcohol spectrum disorder (FASD) is a complex malformative disease caused by the teratogenic effect of alcohol consumed during pregnancy. Mothers are frequently reluctant to admit alcohol consumption during pregnancy. During infancy and particularly during neonatal period, differential diagnosis is difficult.
PATIENT CONCERNS
This case is represented by an Italian neonate boy small for gestational age, born by caesarean section at a gestational age of 37 weeks + 6 days by neglect and single-parent pregnancy. On physical examination, he presented particular facial features: microcephaly, epicanthal folds, flat midface, low nasal bridge, indistinct philtrum, and thin upper lip; moreover, examination revealed a macro-penis and recurvation without evidence of glans.
DIAGNOSIS
Echocardiogram showed an inter-ventricular defect of medium-muscular type and brain magnetic resonance imaging showed asymmetry of the cerebral hemispheres with hypoplasia of the left cerebral hemisphere, dilatation of the left ventricle, cerebrospinal fluid cavity, and porencephaly.
INTERVENTIONS
We investigated the ethylglucuronide (EtG) concentration in the neonate's hair by liquid chromatography-tandem mass spectrometry and we detected EtG in the infant's hair (normal value, 30 pg/mg), demonstrating prenatal alcohol exposure.
OUTCOMES
In this neonate, EtG measure in hairs permitted the diagnosis of FASD, so allowing to exclude genetic diseases associated with similar clinical findings. After this result the mother admitted that she drunk alcohol during pregnancy (she declared 3 glasses of wine every day). At the age of 6 months, the child showed a moderate neurodevelopmental delay.
CONCLUSION
This case shows that FAD should be considered in neonates with rare neurological diseases as porencephaly. In neonates and infants born to a mother who did not report alcohol use, EtG measure in hairs can significantly improve diagnosis of FASD, so allowing to exclude genetic diseases associated with similar clinical findings.
Topics: Female; Fetal Alcohol Spectrum Disorders; Glucuronates; Hair; Humans; Infant, Newborn; Italy; Male; Porencephaly; Pregnancy
PubMed: 32756128
DOI: 10.1097/MD.0000000000021384 -
Developmental Medicine and Child... Feb 2013To investigate the association between magnetic resonance imaging (MRI) patterns and motor function, epileptic episodes, and IQ or developmental quotient in patients...
AIM
To investigate the association between magnetic resonance imaging (MRI) patterns and motor function, epileptic episodes, and IQ or developmental quotient in patients born at term with spastic diplegia.
METHOD
Eighty-six patients born at term with cerebral palsy (CP) and spastic diplegia (54 males, 32 females; median age 20 y, range 7-42 y) among 829 patients with CP underwent brain MRI between 1990 and 2008. The MRI and clinical findings were analysed retrospectively. Intellectual disability was classified according to the Enjoji developmental test or the Wechsler Intelligence Scale for Children (3rd edition).
RESULTS
The median ages at diagnosis of CP, assignment of Gross Motor Function Classification System (GMFCS) level, cognitive assessment, and MRI were 2 years (range 5 mo-8 y), 6 years (2 y 8 mo-19 y), 6 years (1 y 4 mo-19 y), and 7 years (10 mo-30 y) respectively. MRI included normal findings (41.9%), periventricular leukomalacia, hypomyelination, and porencephaly/periventricular venous infarction. The frequency of patients in GMFCS levels III to V and intellectual disability did not differ between those with normal and abnormal MRI findings. Patients with normal MRI findings had significantly fewer epileptic episodes than those with abnormal ones (p=0.001).
INTERPRETATION
Varied MRI findings, as well as the presence of severe motor dysfunction and intellectual disability (despite normal MRI), suggest that patients born at term with spastic diplegia had heterogeneous and unidentified pathophysiology.
Topics: Adolescent; Adult; Brain; Cerebral Palsy; Child; Epilepsy; Female; Humans; Intelligence; Magnetic Resonance Imaging; Male; Motor Skills; Nerve Fibers, Myelinated
PubMed: 23121133
DOI: 10.1111/dmcn.12013 -
Orphanet Journal of Rare Diseases May 2014Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the...
BACKGROUND
Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder.
METHODS
A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neuropsychological testing.
RESULTS
Seventeen patients were molecularly diagnosed in the course of this study and five of these represent new mutations never reported before. Among patients displaying neurological symptoms and/or cognitive/behavioral abnormalities, we identified brain structural anomalies in 88.7%, cognitive impairment in 68%, and associated neurological disorders and signs in 53% of cases. The most frequently observed brain structural anomalies included agenesis of the corpus callosum and neuronal migration/organisation disorders as well as intracerebral cysts, porencephaly and cerebellar malformations.
CONCLUSIONS
Our results support recent published findings indicating that CNS involvement in this condition is found in more than 60% of cases. Our findings correlate well with the kind of brain developmental anomalies described in other ciliopathies. Interestingly, we also described specific neuropsychological aspects such as reduced ability in processing verbal information, slow thought process, difficulties in attention and concentration, and notably, long-term memory deficits which may indicate a specific role of OFD1 and/or primary cilia in higher brain functions.
Topics: Central Nervous System Diseases; Cohort Studies; Female; Humans; Magnetic Resonance Imaging; Mutation; Neuropsychological Tests; Orofaciodigital Syndromes
PubMed: 24884629
DOI: 10.1186/1750-1172-9-74