Prenatal Imaging of Supratentorial Fetal Brain Malformation.

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.

Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.

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.

Radiological characteristics of the posterior fossa of the fetal skull and presentation of a rare case of antenatal screening for Dandy-Walker malformation using antenatal fetal ultrasound and MRI.

INTRODUCTION AND IMPORTANCE: Dandy-Walker malformation is a rare congenital anomaly of the brain that mainly affects the cerebellum region. It is characterised by abnormal dilatation of the fourth ventricle of the brain and partial or total absence of the cerebellar vermis. This malformation may also be accompanied by other anomalies of the brain. Ante-natal diagnosis is becoming increasingly frequent given the performance of medical imaging, in particular ante-natal ultrasound and MRI. The object of this article is to clarify the possible causes of rare cystic malformations of the posterior cerebral fossa, which are very rare congenital malformations. CASE PRESENTATION: a 30 year old patient, second gesture, mother of a live child by caesarean section, referred to us at 32 weeks of amenorrhoea at the university hospital centre for management of a cystic malformation of the posterior cerebral malformation detected on 2nd trimester ultrasound and confirmed as a Dandy Walker malformation on 3rd trimester fetal MRI. CLINICAL DISCUSSION: The Dandy-Walker malformation can be described on prenatal MRI as vermian hypoplasia and can be detected as early as the 1st trimester of pregnancy using ultrasound, This cystic malformation poses a problem of differential diagnosis with other pathologies which also result in a cystic image of the posterior cerebral fossa, in particular Black's pouch cyst, arachnoid cyst and mega magna cistern, which requires careful interpretation of cerebral MRI of the foetus. CONCLUSION: Imaging techniques play a fundamental role in diagnosis. Prenatal ultrasound and MRI can reveal a Dandy-Walker malformation as early as the 2nd month of pregnancy. MRI is ideal for differentiating differential diagnoses.

Decoding Chiari Malformation and Syringomyelia: From Epidemiology and Genetics to Advanced Diagnosis and Management Strategies.

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.

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

INTRODUCTION: 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. CONCLUSION: 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.

Surgical repair of a meningoencephalocoele in a kakapo (Strigops habroptilus).

CASE HISTORY: A kakapo (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 kakapo 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. CLINICAL FINDINGS AND TREATMENT: 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. PATHOLOGICAL FINDINGS: 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. DIAGNOSIS: Rostral parietal meningoencephalocoele. CLINICAL RELEVANCE: 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.

Asymmetric neonatal spasms as an early sign of brain malformation potentially caused by regular light alcohol consumption during the first 22 weeks of pregnancy, a clinical case report.

OBJECTIVE: Introduction: Epileptic spasms are seizures usually associated with a severe developmental epilepsy syndrome with onset in the first year of life, peaking between 3 and 10 months of age [12]. A variety of disorders can cause epileptic spasms, with the etiology driving management, prognosis, and overall outcome. Preexisting brain damage has been demonstrated in 60% to 90% of the cases reflecting pre-, peri-, or postnatal brain injury that may usually be determined by history and clinical neurologic examination. Cerebral malformations may account for up to 30% of the cases [2]. Prenatal alcohol exposure can permanently damage the brain, affecting important structures, such as the cerebellum, corpus callosum as well as specific cell populations in many other regions of the brain. No one knows what a "safe" amount of alcohol consumption during pregnancy may be[3]. Objective: The aim of this article is to present a clinical case of a large brain temporal lobe malformation which was recognized after a very early onset of spasms registered on video EEG-monitoring followed by MRI findings and to put forward the assumption that regular consumption of light alcoholic drinks even in low doses could contribute to irreversible brain damage in the fetus. PATIENTS AND METHODS: Material and methods: All patient data were collected from the NICU and Newborn Pathology Department of Lviv City Children's Clinical Hospital Health Record Department, and included the hospital and clinic records by the staff neurologist, neurophysiologist, and pediatrician, as well as EEG records in the postneonatal period. The mother was interviewed to clarify the pregnancy course data. The mother's consent was obtained for publication. RESULTS: Results: Asymmetric spasms, which were recognized as seizures on the 4th day of the child's life while recording video EEG, urged the physicians towards further diagnostic investigations. Primarily the child was diagnosed with neonatal abstinence syndrome on the 2nd day of life based on clinical and patient history data, but on the following day episodes of myoclonic jerks and jitteriness were noticed and video EEG monitoring started. Upon analysis of video- EEG, myoclonic seizures and spasms were reported showing asymmetry in the amplitude of ictal EEG. MRI was recommended and performed to explain focal EEG findings, and a large brain left temporal lobe malformation was seen. CONCLUSION: Conclusions: Spasms in the form of seizures are rarely reported in the neonatal period. Their recognition has to lead to urgent brain imaging study to look for the underlying cause and to implement timely, appropriate corrections in the treatment strategy. Although brain malformations can have many causes, taking careful antenatal, perinatal and family history has ruled out many usual etiologies. Maternal alcohol consumption during pregnancy may potentially have contributed to the condition.

Cerebral Aneurysm Associated with an Arachnoid Cyst: 3 Case Reports and a Systematic Review of the Literature.

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.

Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia.

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.

Clinical Features, Imaging Characteristics, and Long-term Outcome of Dogs with Cranial Meningocele or Meningoencephalocele.

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.

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare disorder caused by mutations in the PHF6 gene. It manifests as syndromic X-linked recessive intellectual disability (ID) in males and as sporadic ID due to de novo mutations in females. Clinical features include variable ID and a range of somatic manifestations constituting a distinct phenotype in both males and females, respectively, including seizures in a few. Central nervous system (CNS) imaging data are largely unavailable for BFLS. Here we report on CNS MRI findings from two female individuals with BFLS due to a de novo duplication in PHF6 who presented with typical BFLS and epilepsy. Brain findings encompass an intriguing combination of structural abnormalities including a simplified gyral pattern and aspects resembling subcortical band heterotopia as signs of malformation of cortical development (MCD). This finding is of note, since PHF6 has been suggested to play pivotal roles in CNS development including neuronal migration.

Congenital cerebral malformations and dysfunction in fetuses and newborns following the 2013 to 2014 Zika virus epidemic in French Polynesia.

We detected an unusual increase in congenital cerebral malformations and dysfunction in fetuses and newborns in French Polynesia, following an epidemic of Zika virus (ZIKV), from October 2013 to March 2014. A retrospective review identified 19 cases, including eight with major brain lesions and severe microcephaly, six with severe cerebral lesions without microcephaly and five with brainstem dysfunction without visible malformations. Imaging revealed profound neurological lesions (septal and callosal disruption, ventriculomegaly, abnormal neuronal migration, cerebellar hypoplasia, occipital pseudocysts, brain calcifications). Amniotic fluid was drawn from seven cases at gestation weeks 20 to 29. ZIKV RNA was detected by RT-PCR and infectious ZIKV isolates were obtained in four of five microcephalic, but not in two non-microcephalic cases with severe brain lesions. Medical termination of pregnancy was performed in eleven cases; two cases with brainstem dysfunction died in the first months of life; six cases are alive, with severe neurological impairment. The results show that four of seven tested fetuses with major neurological injuries were infected with ZIKV in utero. For other non-microcephalic, congenital abnormalities we were not able to prove or exclude ZIKV infection retrospectively. The unusual occurrence of brain malformations or dysfunction without microcephaly following a ZIKV outbreak needs further studies.

The cephaloceles: A clinical, epidemiological and therapeutic study of 50 cases.

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.

[Emergency cesarean section and craniectomy in a patient with rupture of a cerebral arteriovenous malformation]. / Cesárea urgente y craneotomía en una paciente con rotura de una malformación arteriovenosa cerebral.

The intracerebral hemorrhage in pregnancy is a rare event, but can have catastrophic consequences for both mother and fetus. The management of non-ruptured arteriovenous malformations in pregnancy is not free of controversy in the current literature, as there is the possibility of spontaneous bleeding and becoming a true emergency. We report the case of a pregnant patient of 35 weeks with a diagnosis of a cerebral arteriovenous malformation, who developed a sudden onset of headache, generalized tonic-clonic seizures, loss of consciousness, and hemiparesis with radiological images of an intracranial hematoma with a mass effect, and signs of herniation. The multidisciplinary management is discussed, emphasizing perioperative cesarean approach plus craniotomy and drainage of the hematoma, and subsequent management in intensive care, and definitive management by neuroradiology, with a successful outcome.