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KBG syndrome is a rare genetic disorder caused by heterozygous pathogenic variants in ANKRD11. Affected individuals have developmental delay, short stature, characteristic facial features, and other dysmorphic findings. To date, a spectrum of unspecific neuroradiological defects has been reported in KBG patients, such as cortical defects, white matter abnormalities, corpus callosum, and cerebellar vermis hypoplasia. Deep clinical and neuroradiological phenotyping and genotype of a patient presenting with mild cognitive and behavioral problems were obtained after written informed consent. We herein describe the first KBG patient presenting with cerebellar heterotopia, a heterogeneous malformation characterized by the presence of clusters of neurons within the white matter of cerebellar hemispheres. This novel association broadens the neuroradiological spectrum of KBG syndrome, and further prompts to investigate the potential functions of ANKRD11 in cerebellar development. [ABSTRACT FROM AUTHOR]

Chiari Malformation and Syringomyelia are neurosurgical entities that have been the subject of extensive research and clinical interest. Globally prevalent, these disorders vary demographically and have witnessed evolving temporal trends. Chiari Malformation impacts the normal cerebrospinal fluid flow, consequently affecting overall health. Key observations from canine studies offer pivotal insights into the pathogenesis of Syringomyelia and its extrapolation to human manifestations. Genetics plays a pivotal role; contemporary knowledge identifies specific genes, illuminating avenues for future exploration. Clinically, these disorders present distinct phenotypes. Diagnostically, while traditional methods have stood the test of time, innovative neurophysiological techniques are revolutionizing early detection and management. Neuroradiology, a cornerstone in diagnosis, follows defined criteria. Advanced imaging techniques are amplifying diagnostic precision. In therapeutic realms, surgery remains primary. For Chiari 1 Malformation, surgical outcomes vary based on the presence of Syringomyelia. Isolated Syringomyelia demands a unique surgical approach, the effectiveness of which is continually being optimized. Post-operative long-term prognosis and quality of life measures are crucial in assessing intervention success. In conclusion, this review amalgamates existing knowledge, paving the way for future research and enhanced clinical strategies in the management of Chiari Malformation and Syringomyelia. [ABSTRACT FROM AUTHOR]

Pathogenic variants in ATP1A3 cause various phenotypes of neurological disorders, including alternating hemiplegia of childhood 2, CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) and rapid-onset dystonia-parkinsonism (RDP). Early developmental and epileptic encephalopathy has also been reported. Polymicrogyria has recently been added to the phenotypic spectrum of ATP1A3 -related disorders. Case report. We report here a male patient with early developmental delay who at 12 months presented dystonia of the right arm which evolved into hemidystonia at the age of 2. A cerebral MRI showed bilateral perisylvian polymicrogyria with intact basal ganglia. Whole-exome and whole-genome sequencing analyses identified a de novo new ATP1A3 missense variant (p.Arg914Lys) predicted pathogenic. Hemidystonia was thought not to be due to polymicrogyria, but rather a consequence of this variant. This case expands the phenotypic spectrum of ATP1A3 -related disorders with a new variant associated with hemidystonia and polymicrogyria and thereby, suggests a clinical continuum between the different phenotypes of this condition. [ABSTRACT FROM AUTHOR]

Agenesis of the corpus callosum (AgCC) is a rare congenital brain anomaly characterized by the partial or complete absence of the corpus callosum, a crucial structure responsible for interhemispheric communication. Neurological outcomes associated with AgCC vary widely, with presentation ranging from severe intellectual disabilities to normal cognitive function. The condition is often discovered incidentally due to the variability in its clinical presentation. This report discusses the case of a four-year-old Saudi boy with incidental AgCC identified following a minor head trauma. The patient was born full-term through spontaneous vaginal delivery without perinatal complications. He presented with a history of mild head trauma leading to recurrent, non-progressive headaches localized in the occipital region. Despite the head trauma, there were no signs of increased intracranial pressure or other neurological deficits. A neurological examination revealed a head circumference above the 95 th percentile, but all other parameters, including cranial nerve function, motor strength, and reflexes, were within normal limits. Neuroimaging through computed tomography and magnetic resonance imaging unexpectedly revealed complete agenesis of the corpus callosum. Despite this structural anomaly, the patient's cognitive function, assessed by the Mini-Mental State Examination and an IQ test, was within normal limits. The patient was managed conservatively for his head trauma and discharged with a recommendation for annual neurocognitive follow-up. This case highlights the variable presentation of AgCC, where, despite the complete absence of the corpus callosum, the patient demonstrated no significant neurocognitive deficits. The findings align with existing literature suggesting that isolated AgCC can present with a broad spectrum of cognitive outcomes, from profound intellectual disability to near-normal function. The case underscores the importance of ongoing neuropsychological monitoring in individuals with AgCC, particularly as cognitive demands increase with age. Additionally, this case emphasizes the need for increased awareness and education among clinicians regarding the potential for late-emerging neurocognitive challenges in patients with AgCC., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Almohammal et al.)

A kākāpō (Strigops habroptilus) chick hatched on an off-shore island of New Zealand with a small white mass protruding through the cranial skin of the head. The chick's growth followed a normal pattern for kākāpō but at 3 weeks of age the cranium mass was non-reducible and fixed in place and the chick was removed from the island for diagnostic imaging and hand-rearing. A computed tomography (CT) examination revealed a full-thickness circular defect in the central cranium with suspected herniation of brain and dura. Surgery was performed at 37 days of age, and the herniated dura was dissected from the open fontanelle. Attempts to reduce the herniated tissue were unsuccessful, so the herniated dura and cortex were clamped and resected. The dura was closed and the periosteum of the skull was scarified and monofilament polypropylene mesh was secured tautly over the fontanelle. The mesh graft was infused with autologous bone marrow harvested from the ulna in an attempt to stimulate osteogenesis in the mesh repair. The skin flap was then closed. Post-operative recovery and healing were without complication. A CT examination 4 weeks after surgery showed no recurrence of the hernia, and a composite of mesh and scar over the open fontanelle which had reduced in diameter. The chick was released back onto an off-shore island with a radio transmitter and it continues to be monitored regularly. The tissue resected at surgery consisted of a cylindrical core of cerebral parenchyma overlain by a mildly hyperplastic epidermis, and large amounts of oedematous fibrovascular tissue arising from the leptomeninges. Rostral parietal meningoencephalocoele. This is the first report of successful surgical resolution of a meningoencephalocoele in any bird. Techniques from human neurosurgery were adapted for the unique anatomical features of the avian skull. The risks of the procedure included increased intra-cranial pressure resulting in anaesthetic complications or death, cerebrospinal fluid leakage, meningitis or recurrence of the meningoencephalocoele. In the longer term, there was a risk of developmental deficits in cognition or behaviour. None of these complications eventuated in the short to medium term, probably due to the small size of the meningoencephalocoele. [ABSTRACT FROM AUTHOR]

This review article provides a comprehensive overview of fetal MR imaging in supratentorial cerebral malformations. It emphasizes the importance of fetal MR imaging as an adjunct diagnostic tool used alongside ultrasound, improving the detection and characterization of prenatal brain abnormalities. This article reviews a spectrum of cerebral malformations, their MR imaging features, and the clinical implications of these findings. Additionally, it outlines the growing importance of fetal MR imaging in the context of perinatal care., Competing Interests: Disclosure The authors have nothing to disclose., (Copyright © 2024 Elsevier Inc. All rights reserved.)

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.

Background: Optic nerve hypoplasia (ONH), a leading cause of pediatric blindness, is associated with brain malformations and hypopituitarism in the constellation known as septo- optic dysplasia. Neuroimaging is used to anticipate hypopituitarism, but with unconfirmed reliability. We report prospective findings on the association of hypopituitarism with brain malformations. Methods: Children (<24 months) with ONH (n = 146; 87% bilateral) underwent baseline MRI and annual examinations and hormonal testing. Hypopituitarism status at age 5 years was classified. Results: A total of 74% had brain malformation(s). Hypopituitarism (69%) was not associated with brain malformations (p = 0.351); this persisted after adjusting for the laterality of ONH and the timing of MRI (padj = 0.869). No association was noted for absent septum pellucidum (38%; p = 0.073), corpus callosum abnormality (51%; p = 0.625) and major malformations (22%; p = 0.407). A malformation conferred a positive predictive value of 71% (95% CI: 62%, 80%) and a negative predictive value of 37% (95% CI: 22%, 54%). Overall, 10% (n = 15) of the cohort presented with a triad of absent septum pellucidum, corpus callosum abnormality, and other major malformation; only half (n = 8) of these had hypopituitarism. All 13 subjects with pituitary malformations manifested hypopituitarism, conferring predictive values of 100% (positive) and 34% (negative). Conclusions: Hypopituitarism and brain malformations are highly prevalent, but have unrelated associations with ONH. Brain MRI in infants and toddlers with ONH is an unreliable screen for hypopituitarism risk. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Polymicrogyria is a disorder of cerebrocortical migration resulting in increased numbers of small, disorganized gyri. This disorder occurs in Standard Poodles and in cattle. Objectives: To describe the clinical, electroencephalographic, imaging, and histopathologic features in poodles with polymicrogyria. Animals: Five Standard Poodles with histologically confirmed polymicrogyria. Methods: Retrospective case series. Cases were obtained by personal communication with 1 of 2 authors (TJVW, DPO). Results: All dogs had cortical blindness and other neurologic abnormalities including gait and behavioral changes. Magnetic resonance imaging of 3 dogs showed multiple disorganized gyri, which were especially apparent on T2-weighted dorsal plane images. Electroencephalogram (EEG) of 1 dog revealed epileptiform discharges, including both spike and spike and wave discharges with voltage maximum potentials over the parietal/occipital region. The EEG supported that the repetitive behavior displayed by the dog was a complex partial motor seizure. One dog had concurrent hydrocephalus. All dogs had occipital lobe involvement and 2 dogs had involvement of other lobes. Clinical Importance: The cases presented here demonstrate a larger age range (7 weeks to 5 years) and a decreased frequency of associated hydrocephalus when compared with the previous report. [ABSTRACT FROM AUTHOR]

Copyright of Monatsschrift Kinderheilkunde is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Phospholipases are ubiquitous and diverse enzymes group that induce changes in membrane composition, activate the inflammatory cascade and alter cell signaling pathways. Phospholipases A(2) (PLA(2)s) are enzymes responsible for mobilization of fatty acids, including arachidonic acid (AA), from phospholipids. These enzymes are classified as high-molecular-weight cytosolic PLA(2)s (cPLA(2)s) and low-molecular-weight secretory PLA(2)s (sPLA(2)s). The metabolism of arachidonic acid may follow multiple, interrelated pathways, leading to the generation or release of a wide variety of biologically active substances. Inflammatory cells are capable of releasing arachidonic acid, which may be further metabolized by cyclooxygenase, lipoxygenase, and cytochrome P450 monooxygenase enzymes, among other biochemistry fates. In adition, several different types of superface receptors for PLA2 have been identified, like PLA2R1. In this article we summarize recent evidence of the fundamental activity that PLA2 plays in biologic and pathobiologic setting. [ABSTRACT FROM AUTHOR]

Purpose. Periventricular nodular heterotopia (PNH) is among the most common malformations of cortical development, and affected patients are frequently characterized by focal drug-resistant epilepsy. Here we analyzed clinical, MRI, and electrophysiologic findings in 54 PNH patients to reevaluate the classification of PNH, relate the anatomic features to epileptic outcome, and ascertain the contribution of PNH nodules to the onset of epileptic discharges. Methods: The patients were followed up for a prolonged period at the Epilepsy Center of our Institute. In all cases, we related MRI findings to clinical and epileptic outcome and analyzed interictal and ictal EEG abnormalities. In one patient, EEG and stereo-EEG (SEEG) recordings of seizures were compared. Results: We included cases with periventricular nodules, also extending to white matter and cortex, provided that anatomic continuity was present between nodules and malformed cortex. Based on imaging and clinical data, patients were subdivided into five PNH groups: (a) bilateral and symmetrical; (b) bilateral single-noduled; (c) bilateral and asymmetrical; (d) unilateral; and (e) unilateral with extension to neocortex. The latter three groups were characterized by worse epileptic outcome. No differences in outcome were found between unilateral PNH patients regardless the presence of cortical involvement. Interictal as well as ictal EEG abnormalities were always related to PNH location. Conclusions: The distinctive clinical features and epileptic outcomes in each group of patients confirm the reliability of the proposed classification. Ictal EEG and SEEG recordings suggest that seizures are generated by abnormal anatomic circuitries including the heterotopic nodules and adjacent cortical areas. [ABSTRACT FROM AUTHOR]

Fetal ultrasound (FU) is used during almost all pregnancies and makes a large contribution to the identification of fetal malformation. It is particularly difficult to announce a malformation, particularly those affecting the brain, because there are often doubts concerning both the diagnosis and the prognosis.Aim. – The aim of this study was to analyze how imaging for prenatal screening is organized and how couples are managed and supported. We concentrated on the procedures used to inform couples: content, method of delivery and consequences.Method. –: Study amongst large multidisciplinary centers in Paris and the Paris region, by semi-directed interviews using a questionnaire.Results. –: We showed that it is difficult to standardize the way in which information is supplied before and after the examination, and that doctors tend to recommend abortion when the prognosis is uncertain.Discussion. –: These results provide information that will help decision-making concerning a standardized procedure allowing couples to benefit from all the capacities of prenatal screening, particularly when the diagnosis and prognosis are uncertain. There is a need for multidisciplinary teams to support and to accompany the decision concerning whether to have an abortion or to continue the pregnancy. [Copyright &y& Elsevier]

In the present study, we administered liquid diets containing ethanol to pregnant rats on different schedules, and examined the cerebral cortex of their pups on gestational day (GD) 21 by immunohistochemistry. The first group of pregnant rats was fed a liquid diet containing 5% (w/v) ethanol during GDs 10–21(5% Et). The second group was fed a liquid diet containing 2.5% (w/v) ethanol on GDs 10–12, a diet containing 4% (w/v) ethanol on GDs 13–15, and a diet containing 5% (w/v) ethanol on GDs 16–21 (2.5–5% Et). Pups of 5% Et dams had leptomeningeal heterotopias mainly in the parietal cortex. In 2.5–5% Et pups, other types of malformations such as grooves, microgyri, stacked-up cortices, and defects of layer I were found. The diet intake and body weight gain of 2.5–5% Et dams were significantly higher than those of 5% Et dams during GDs 11–16. There was no difference in total ethanol consumption during GDs 10–21 between the two groups. However, ethanol consumption on GD 15 in 2.5% Et was higher than in 5% Et. A different schedule for administration of an ethanol-containing diet in pregnancy might induce different types of cerebral malformations in rat fetuses. [ABSTRACT FROM AUTHOR]

The histopathological features, particularly hypervascularity, were examined in specimens resected from 21 patients, 15 with intractable epilepsy accompanying cortical dysplasia or dysembryoplastic neuroepithelial tumor (DNT), and 6 with benign brain tumors, such as ganglioglioma and low-grade glioma. Hypervascularity was found in resected specimens from 15 of the 21 patients (71.4%) and in 10 of the 12 patients (83.3%) who had double pathology. Counting of numbers of vessels by CD31 immunohistochemistry revealed that hypervascularity was prominent, especially in cases of vascular malformation or cortical dysplasia. However, almost all cases were negative for vascular endothelial growth factor (VEGF) staining, except for some cases of benign brain tumors. Moreover, all cases showed low or no proliferative potential in MIB-1 immunohistochemistry. These results suggest that the etiology of hypervascularity in the dysplastic lesions is one of a variety of cerebral malformations, as is the case with abnormal maturation and differentiation in neuroglial elements. [ABSTRACT FROM AUTHOR]

The angiographic features of three cases with holoprosencephaly are reported. In all of them, the galenic venous system seemed to be deficient and the basal ganglia were drained by peculiar veins which coursed laterally and drained directly into the lateral sinus. These peculiar veins are considered to be remnants of the embryonic diencephalic viens, suggesting that these patients retain their early embryonic pattern of venous drainage. The diagnosis of alobar holoprosencephaly is established by the demonstration of the azygos anterior cerebral artery coursing along the frontal bone with excessive undulations. But with lobar holoprosencephaly, this characteristic feature is not present, and dysgenesis of the deep venous system is important for the diagnosis of holoprosencephaly. [ABSTRACT FROM AUTHOR]

Copyright of Archiv für Psychiatrie und Nervenkrankheiten is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of swirling hypopigmentation. Multiple extracutaneous abnormalities involving the central nervous system, the eyes, and musculoskeletal structures occur in over two-thirds of the cases. This report describes two patients with typical unilateral cutaneous lesions associated with extracutaneous features, including hypertrophy of the cerebral hemisphere contralateral to the cutaneous hypopigmentation. Magnetic resonance imaging and EEG findings support the diagnosis of hemimegalencephaly, as has recently been reported in other isolated cases of this rare phakomatosis. [ABSTRACT FROM AUTHOR]

Background Arachnoid cysts and intracranial aneurysms are not rare, but it is unusual for an aneurysm to be associated with an arachnoid cyst. The objective of this study was to reveal the association between arachnoid cysts and intracranial aneurysms. Methods Methods included to report 3 cases with these 2 pathologies and to perform a systematic review of the English and Japanese literature using PubMed, Scopus, and Ichushi Web. Results The first case was of a 46-year-old man with a subarachnoid hemorrhage on the basal cistern and bilateral arachnoid cysts in the middle fossa, the second was that of a 29-year-old woman with a subarachnoid hemorrhage at the basal cistern and an arachnoid cyst in the left middle fossa, and the third was that of a 60-year-old man with a right putaminal hemorrhage and contralateral unruptured aneurysm and arachnoid cyst. A literature search for similar cases found 27 patients. Conclusions It was difficult to diagnose a ruptured aneurysm in some cases with an arachnoid cyst because computed tomography scan showed atypical findings, such as no hemorrhage, intracystic localized hemorrhage, or subdural hematoma. This review revealed that aneurysms and arachnoid cysts were significantly located ipsilaterally and that they occurred together in relatively young patients. [ABSTRACT FROM AUTHOR]

Syndromic forms of cortical maldevelopment continue to be a curiosity. Hypomelanosis of Ito (HI) is the presence of whirled hypochromic skin lesions often associated with nondermatological manifestations. The polymorphism of brain abnormalities associated with HI is well known. We report three cases of Hypomelanosis of Ito, occuring in infants, and associated with cerebral malformation. [ABSTRACT FROM AUTHOR]

The article focuses on the occurrence of Kallmann's syndrome to a person with agenesis of the corpus callosum and other midline cerebral malfunction. A person with agenesis would develop alterative compensatory neuronal pathways and bilateral representation of motor and parietal functions. On the other hand, Kallmann's syndrome was developed due to parasagittal developmental arrest.

Introduction: Cephaloceles are congenital malformations characterized by externalization of the meninges and/or brain tissue through a congenital skull bone defect. In developed countries, this malformation is rare but in our developing countries, this pathology remains one of our concerns., Objective: To describe the epidemiological, clinical and therapeutic aspects of the cephaloceles., Materials and Method: A retrospective study was conducted from 2007 to 2013 on all cases of cephalocele supported in the department of neurosurgery of the Yalgado Ouédraogo University Teaching Hospital of Ouagadougou. The malformations were supplemented by CT scan. All patients were operated. The surgical procedure in cephaloceles of the convexity consisted of a direct approach. Sincipital cephaloceles were operated by transcranial approach or combined approach associating transcranial and transnasal approaches., Results: Fifty patients were gathered during the 7-year period. There were 18 boys and 32 girls. The ages ranged from 1 day to 11 years. The cephaloceles were located on the vault of the skull in 78%; the lesion was sincipital in 22%. The malformation was covered with normal skin in 92%; it was pediculated in 78%. CT scan allowed the classification of cases as meningo-encephaloceles in 31 cases (62%) and meningoceles in 18 cases (36%) and one pure encephalocele. The immediate postoperative course was uneventful in 42 cases (84%); 8 postoperative deaths were recorded. At medium and long term, 4 patients (8%) developed complications of psychomotor deficiency in 3 cases and hydrocephalus in 1 case. The main reasons for the poor prognosis were superinfection, hydrocephalus and/or other brain malformations., Conclusion: Cephaloceles remain relatively frequent in our practice. After surgery, mental failure and hydrocephalus can occur impairing the prognosis. The most suitable solution is a policy of prevention with folic acid treatment before and during pregnancy and following up adequate pregnancies., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)