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The neurodiagnostic criteria of Leigh syndrome have not yet been clearly redefined based on the expanding of molecular etiologies. We aimed to analyze 20 years of clinical, genetic, and magnetic resonance studies from our Leigh syndrome cohort to provide a detailed description of central nervous system lesions in Leigh syndrome and their biological evolution in view of their genetic and clinical findings. Our study adds new neurodiagnostic insights to the current knowledge of Leigh syndrome, including association with overlapping syndromes, and the correlation of pathogenic genetic variants with neuroimaging phenotypes. ANN NEUROL 2020;88:218-232., (© 2020 American Neurological Association.)

Vascular injury is increasingly recognized as an important cause of mortality and morbidity in children (29 days to 18 years of age). Since vascular brain injury in children appears to be less common than in adults, the index of suspicion for vascular brain injury is usually lower. In this review article, we describe frequent and rare conditions underlying pediatric stroke including cardioembolic, viral, autoimmune, post-traumatic, and genetic etiologies. Furthermore, we provide a neuroimaging correlate for clinical mimics of pediatric stroke. This review highlights the role of multimodal noninvasive neuroimaging in the early diagnosis of pediatric stroke, providing a problem-solving approach to the differential diagnosis for the neuroradiologist, emergency room physician, and neurologist.

Synthetic magnetic resonance imaging is a novel imaging technique that allows generating multiple contrast-weighted images based on relaxivity measurements of tissue properties in a single acquisition using a multiecho, multidelay saturation recovery spin-echo sequence. The synthetic images can be generated postacquisition from the parametric tissue maps, which can be beneficial to reduce scan time and improve patient throughput. Based on relaxometry maps, synthetic magnetic resonance imaging can also perform brain tissue segmentation and myelin quantification without additional scan time. The quantitative analysis may have implications for understanding and monitoring of the evolution of the maturation process. Similarly, the myelination process is vitally important to central nervous system functioning. Measuring myelin volume could provide relevant information for the diagnosis and treatment of patients with myelination disorders.

Abusive head trauma (AHT) is a form of inflicted head injury. AHT is more frequent in 2-year-old or younger children. It is an important cause of neurological impairment and the major cause of death from head trauma in this age group. Brain magnetic resonance imaging allows the depiction of retinal hemorrhages, injured bridging veins, and identifying and localizing extra- and intra-axial bleeds, contusions, lacerations, and strokes. The diagnosis of AHT is a multidisciplinary team effort which includes a careful evaluation of social, clinical, laboratory, and radiological findings. Notwithstanding, the introduction in the current clinical practice of high-resolution techniques is adding forensic evidence to the recognition of AHT.

Deep neural networks are increasingly being used in both supervised learning for classification tasks and unsupervised learning to derive complex patterns from the input data. However, the successful implementation of deep neural networks using neuroimaging datasets requires adequate sample size for training and well-defined signal intensity based structural differentiation. There is a lack of effective automated diagnostic tools for the reliable detection of brain dysmaturation in the neonatal period, related to small sample size and complex undifferentiated brain structures, despite both translational research and clinical importance. Volumetric information alone is insufficient for diagnosis. In this study, we developed a computational framework for the automated classification of brain dysmaturation from neonatal MRI, by combining a specific deep neural network implementation with neonatal structural brain segmentation as a method for both clinical pattern recognition and data-driven inference into the underlying structural morphology. We implemented three-dimensional convolution neural networks (3D-CNNs) to specifically classify dysplastic cerebelli, a subset of surface-based subcortical brain dysmaturation, in term infants born with congenital heart disease. We obtained a 0.985 ± 0. 0241-classification accuracy of subtle cerebellar dysplasia in CHD using 10-fold cross-validation. Furthermore, the hidden layer activations and class activation maps depicted regional vulnerability of the superior surface of the cerebellum, (composed of mostly the posterior lobe and the midline vermis), in regards to differentiating the dysplastic process from normal tissue. The posterior lobe and the midline vermis provide regional differentiation that is relevant to not only to the clinical diagnosis of cerebellar dysplasia, but also genetic mechanisms and neurodevelopmental outcome correlates. These findings not only contribute to the detection and classification of a subset of neonatal brain dysmaturation, but also provide insight to the pathogenesis of cerebellar dysplasia in CHD. In addition, this is one of the first examples of the application of deep learning to a neuroimaging dataset, in which the hidden layer activation revealed diagnostically and biologically relevant features about the clinical pathogenesis. The code developed for this project is open source, published under the BSD License, and designed to be generalizable to applications both within and beyond neonatal brain imaging., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Hemiplegic migraine is a common cause of acute brain attack in pediatrics. MR imaging sequences useful in differentiating hemiplegic migraine from other entities include arterial spin-labeling, SWI, MRA, and DWI. There has been limited exploration on the simultaneous use of these sequences in pediatrics. We present 12 pediatric patients with acute hemiplegic migraine or migraine with aura who underwent MR imaging within 12 hours of symptom onset. Quantitative and qualitative analyses were performed on arterial spin-labeling; and qualitative analysis, on SWI and MRA sequences. All 12 patients had normal DWI and abnormal arterial spin-labeling findings. Furthermore, we observed a more rapid transition from hypoperfusion to rebound hyperperfusion in 3 patients compared with prior reports. These findings support the use of multimodal MR imaging to distinguish migraine with aura from stroke and the simultaneous use of these MR imaging sequences to improve understanding of perfusion changes during migraine with aura., (© 2018 by American Journal of Neuroradiology.)

Mitochondrial diseases are a complex and heterogeneous group of genetic disorders that occur as a result of either nuclear DNA or mitochondrial DNA pathogenic variants, leading to a decrease in oxidative phosphorylation and cellular energy (ATP) production. Increasing knowledge about molecular, biochemical, and genetic abnormalities related to mitochondrial dysfunction has expanded the neuroimaging phenotypes of mitochondrial disorders. As a consequence of this growing field, the imaging recognition patterns of mitochondrial cytopathies are continually evolving. In this review, we describe the main neuroimaging characteristics of pediatric mitochondrial diseases, ranging from classical to more recent and challenging features. Due to the increased knowledge about the imaging findings of mitochondrial cytopathies, the pediatric neuroradiologist plays a crucial role in the diagnosis and evaluation of these patients.

Postcontrast 3-dimensional fluid-attenuated inversion recovery (3D-FLAIR) sequences have reduced vascular and flow-related artifacts and high sensitivity to low gadolinium concentrations. We compared the performance of postcontrast spoiled gradient echo images to 3D-FLAIR in the detection of leptomeningeal metastases in 47 pediatric patients with brain tumors. We found 10 cases with more leptomeningeal signal abnormalities on 3D-FLAIR. Overall there were significantly more lesions on 3D-FLAIR than spoiled gradient echo sequences. We believe the increased detection of leptomeningeal signal abnormality is due to increased sensitivity for low concentrations of gadolinium in regions of early blood brain barrier breakdown. Our study was limited by the lack of leptomeningeal metastases in cerebrospinal fluid sampling. We plan to conduct future studies which will determine whether the time-based concentration of gadolinium affects the performance and results. Future studies will also require more cases of pathology-proven leptomeningeal disease.

Lyme disease (LD) is a tick-borne infection that is endemic to multiple areas of the United States. Patients with LD may present with sign and symptoms of intracranial hypertension (IH). The objective of this study is to evaluate the history, clinical findings, CSF analysis, and brain imaging results in pediatric patients with increased intracranial pressure secondary to LD. A retrospective database search was performed using the International Classification of Diseases (ICD) 9/10 codes to identify patients diagnosed with LD and IH between 2004 and 2014 at a tertiary referral pediatric hospital. Clinical, laboratory and neuroimaging data for each patient were reviewed. Seven patients met inclusion criteria; mean age was 9.6 years (standard deviation 4.0 years); 4/7 patients were male. Average body mass index was 18.8 kg/m(2) (standard deviation 3.0 kg/m(2)). Fever was present in four patients. Four had a history of LD related erythema migrans. All had elevated CSF opening pressure with leukocytosis and lymphocytic predominance. MRI obtained in six patients showed contrast enhancement of various cranial nerves. Tentorial enhancement was noted in all patients. In addition, patients had widening of the optic nerve sheath (ONS), optic nerve protrusion, and flattening of the posterior globe consistent with increased intracranial pressure. All patients had resolution of their symptoms after initiation of antibiotic therapy. In endemic areas, LD should be included in the differential of IH. MRI can help distinguish IH due to LD from its idiopathic form due to the presence of tentorial and cranial nerve enhancement in the former in addition to abnormal CSF showing leukocytosis with lymphocyte predominance.

Introduction: In children, many inherited or acquired neurological disorders may cause bilateral symmetrical signal intensity alterations in the basal ganglia and thalami., Methods: A literature review was aimed at assisting neuroradiologists, neurologists, infectious diseases specialists, and pediatricians to provide further understanding into the clinical and neuroimaging features in pediatric patients presenting with bilateral symmetrical basal ganglia and thalamic lesions on magnetic resonance imaging (MRI)., Results: We discuss hypoxic-ischemic, toxic, infectious, immune-mediated, mitochondrial, metabolic, and neurodegenerative disorders affecting the basal ganglia and thalami., Conclusion: Recognition and correct evaluation of basal ganglia abnormalities, together with a proper neurological examination and laboratory findings, may enable the identification of each of these clinical entities and lead to earlier diagnosis.

We report a case of a 15-year-old boy who presented to our institution with left-sided weakness and slurred speech. He had a history of medulloblastoma diagnosed at 3 years of age, status postsurgical resection and craniospinal radiation. Magnetic resonance imaging (MRI) of brain revealed a right paramedian pontine infarction, suspected secondary to late-onset radiation-induced vasculopathy of the vertebrobasilar system. Radiation to the brain is associated with increased incidence of ischemic stroke. Clinicians should have a high index of suspicion for stroke when these patients present with new neurologic symptoms., (© The Author(s) 2014.)

Introduction: This study aims to evaluate the capability of magnetic resonance imaging (MRI) susceptibility weighted images (SWI) in depicting retinal hemorrhages (RH) in abusive head trauma (AHT) compared to the gold standard dilated fundus exam (DFE)., Methods: This is a retrospective, single institution, observational study on 28 patients with suspected AHT, who had a DFE and also underwent brain MRI-SWI as part of routine diagnostic protocol. Main outcome measures involved evaluation of patients to determine whether the RH could be identified on standard and high-resolution SWI sequences., Results: Of the 21 subjects with RH on DFE, 13 (62%) were identified by using a standard SWI sequence performed as part of brain MRI protocols. Of the 15 patients who also underwent an orbits SWI protocol, 12 (80%) were positive for RH. None of the seven patients without RH on of DFE had RH on either standard or high-resolution SWI. Compared with DFE, the MRI standard protocol showed a sensitivity of 75% which increased to 83% for the orbits SWI protocol., Conclusions: Our study suggests the usefulness of a tailored high-resolution orbits protocol to detect RH in AHT.

Isolated brain stem lesions presenting with acute neurologic findings create a major diagnostic dilemma in children. Although the brain stem is frequently involved in ADEM, solitary brain stem lesions are unusual. We performed a retrospective review in 6 children who presented with an inflammatory lesion confined to the brain stem. Two children were diagnosed with connective tissue disorder, CNS lupus, and localized scleroderma. The etiology could not be determined in 1, and clinical features suggested monophasic demyelination in 3. In these 3 children, initial lesions demonstrated vasogenic edema; all showed dramatic response to high-dose corticosteroids and made a full clinical recovery. Follow-up MRI showed complete resolution of lesions, and none had relapses at >2 years of follow-up. In retrospect, these cases are best regarded as a localized form of ADEM. We conclude that though ADEM is typically a disseminated disease with multifocal lesions, it rarely presents with monofocal demyelination confined to the brain stem.

NF2 is an autosomal dominant disorder with neuroectodermal dysplasia. Most patients present with characteristic clinical tumors during or beyond the adolescent age group. The diagnosis is mainly clinical. Vasculopathy is rarely associated with NF2. Vascular complication as the presenting symptom in NF-2 is unknown. We report a case of a 2-year-old child with no prior family history of neurofibromatosis presenting with ataxia and brain-stem stroke., (Copyright © 2011 by the American Society of Neuroimaging.)

GBS and its MFS variant are acute polyneuropathies that are considered to represent a continuum rather than distinct entities, due to the overlap in their clinical features. Enhancement of the CE roots represents the neuroradiologic hallmark of GBS, while findings of neuroimaging studies in MFS are usually unremarkable. Our purpose was to evaluate the MR imaging findings of polyneuropathy in 17 children affected by GBS and its MFS variant. Fourteen of our 17 patients demonstrated CE enhancement, with predominant involvement of the anterior roots. Of 6 patients who underwent MR imaging of the brain, 5 had cranial nerve involvement. In children affected by GBS-MFS, involvement of the CE roots may be considered part of a more extensive autoimmune neuropathy, as demonstrated by enhancement of cranial nerves. Brain MR imaging should be considered in the routine evaluation in pediatric patients with GBS-MFS for the evaluation of the cranial nerves.

Objective: Wernicke's encephalopathy is an acute neurological syndrome resulting from thiamine (vitamin B1) deficiency. Early recognition is important because timely thiamine supplementation can reverse the clinical features of the disease. The aim of this article is to provide an update on the typical and atypical neuroimaging findings of the acute phase of the disease., Conclusion: Wernicke's encephalopathy is characterized by a quite distinct pattern of MR alterations, which include symmetrical alterations in the thalami, mamillary bodies, tectal plate, and periaqueductal area, but atypical alterations may also been seen. A thorough knowledge of the neuroimaging findings of Wernicke's encephalopathy will assist in arriving at an early diagnosis, thus reducing the morbidity and mortality associated with this disease.

Background and Purpose: Wernicke encephalopathy (WE) is a severe neurologic disorder resulting from dietary vitamin B(1) deficiency. This study was undertaken to analyze and compare MR imaging findings and neurologic manifestations at clinical presentations of patients with WE with and without a history of alcohol abuse., Materials and Methods: WE patients were identified using diagnostic neurologic data bases. Fifty-six patients (29 females, 27 males) diagnosed between 1999 and 2008 with WE who improved within 1 month from the onset of thiamine administration were included in the analysis. Patients' records were reviewed for clinical manifestations and imaging studies' findings. MR imaging was performed in the acute phase of the disease at a field strength of 1T (16 patients) and 1.5T (40 patients). All MR images were of acceptable to good quality and were retrospectively reviewed. We compared imaging findings and clinical presentation in the alcoholic (AL) group versus the non-alcoholic (NA) group using the 2-tailed Fisher exact test and the Phi coefficient as appropriate., Results: Forty-three percent of the patients were in the AL group, whereas 57% were in the NA group. Eighty-nine percent showed changes in consciousness, 75% had ocular manifestations, and 54% had ataxia. On MR imaging, 80% of the patients had evidence of symmetric lesions in the medial thalami and in the periventricular region of the third ventricle; 59%, in the periaqueductal area; 45%, in the mamillary bodies; 36%, in the tectal plate; and 7%, in the periventricular gray matter located anteriorly to the fourth ventricle. Signal-intensity alterations in areas considered atypical for the disease were noted only in the NA group and always in association with the typical findings. Contrast enhancement of the thalamus and mamillary bodies was significantly associated with alcohol abuse., Conclusions: Contrast enhancement in the mamillary bodies and thalamus is a typical finding of the disease in AL patients. Atypical MR imaging findings characterize NA patients.

Wernicke's encephalopathy (WE) is a severe neurological disorder caused by a dietary deficiency of Vitamin B1 and characterized by consciousness changes, ocular abnormalities, and ataxia. Wernicke's encephalopathy is considered a medical emergency and treatment consists of intravenous thiamine administration. Typically in alcoholic and nonalcoholic patients magnetic resonance shows alterations in the mamillary bodies, medial thalami, tectal plate, and periaqueductal regions. We report here on a nonalcoholic atypical case of WE which presented with reversible symmetrical lesions in the cranial nerves nuclei and in the cerebellum alongside the classic neuroradiological findings.

Background and Purpose: Wernicke encephalopathy is a severe neurologic disorder that results from a dietary vitamin B1 deficiency. It is characterized by changes in consciousness, ocular abnormalities, and ataxia. This study was undertaken to analyze and compare findings on MR imaging and neurologic symptoms at clinical presentations of patients with Wernicke encephalopathy with and without a history of alcohol abuse., Materials and Methods: A multicenter study group retrospectively reviewed MR brain imaging findings, clinical histories, and presentations of 26 patients (14 female, 12 male) diagnosed between 1999 and 2006 with Wernicke encephalopathy. The age range was 6-81 years (mean age, 46 .6+/-19 years)., Results: Fifty percent of the patients had a history of alcohol abuse, and 50% had no history of alcohol abuse. Eighty percent showed changes in consciousness, 77% had ocular symptoms, and 54% had ataxia. Only 38% of the patients showed the classic triad of the disease at clinical presentation. At MR examination, 85% of the patients showed symmetric lesions in the medial thalami and the periventricular region of the third ventricle, 65% in the periaqueductal area, 58% in the mamillary bodies, 38% in the tectal plate, and 8% in the dorsal medulla. Contrast enhancement of the mamillary bodies was statistically positively correlated with the alcohol abuse group., Conclusions: Our study confirms the usefulness of MR in reaching a prompt diagnosis of Wernicke encephalopathy to avoid irreversible damage to brain tissue. Contrast enhancement in the mamillary bodies is a typical finding of the disease in the alcoholic population.

Purpose: Spontaneous dissection of the carotid and vertebral arteries represents a rare pathology. Its pathogenesis, probably multi-factorial, can be related to neck trauma and to a genetic basis, extensively demonstrated in the cases of association with type IV fibromuscular dysplasia, Ehlers-Danlos syndrome, Marfan's syndrome, pseudoxanthoma elasticum and osteogenesis imperfecta. Onset symptoms include neck, facial pain and diffuse headache. Cranial nerve palsy has been also described. The aim of this study was to evaluate MR angiography and MR findings in a population of patients with carotid and vertebral artery dissections., Materials and Methods: We reviewed the MR angiography and MR exams of 15 patients (10 males, 5 females, average age 42.0, age range 30-55) with carotid and/or vertebral artery dissection; the serial MR follow-up studies were also examined., Results: Twelve internal carotid arteries (ICA) showed the presence of an irregular stenosis; three of these showed complete occlusion. In two patients both ICA were involved. Six vertebral arteries (VA) showed irregular stenosis (only one patient suffered from both CI and VA dissection); in one case there was also a pseudoaneurysm of the VA. Follow-up studies showed vessel lumen re-opening in 5/11 ICA (one patient underwent vascular stent positioning) and in 3/6 VA., Conclusions: The present study confirms the usefulness of MR angiography and MR in the diagnosis and follow-up of patients with carotid and vertebral artery dissection.

Purpose: To evaluate a patient population affected by Neurofibromatosis type 1 (NF1) with special reference to optic pathway gliomas., Material and Methods: A total of 419 NF1 patients (222 men, 197 women) were retrospectively evaluated to show incidence, biological behaviour, neuroradiological and clinical presentation of optic pathway gliomas. Central Nervous System MR and ophthalmologic evaluations were reviewed., Results: Thirty-two patients out of 419 (7.6%) showed the presence of optic pathway gliomas. Of these, 28 (87.2%) patients showed tumoral involvement of the optic chiasma. The right intracranial optic nerve was involved in 15 patients (46.8%), the left intracranial optic nerve in 18 (56.2%), the right extracranial optic nerve in 11 (34.3%), the left extracranial optic nerve in 10 (31.2%) and the right and left optic tracts in 6 (18.7%) patients. Geniculate body and optic radiation were not involved by tumour diffusion. Visual acuity testing was positive in 26/32 (81.2%), the fundus oculi in 11/32 (34.3%) patients and the visual field evaluation in 12/32 (37.5%) patients., Conclusions: In this study we showed an high correlation between optic pathway tumours and ophthalmologic abnormalities confirming the usefulness of an integrated clinical-neuroradiological approach in patients affected by NF1. We also described the biological behaviour of these tumours in our NF1 patient population.

Peliosis hepatis is an uncommon benign disorder characterized by blood-filled cavities within the liver. We describe the sonographic, computed tomographic, and magnetic resonance appearance of a patient affected by peliosis hepatis with pseudotumoral and hemorrhagic evolution and direct demonstration of the ectatic vascular components.

Abnormalities of the hypothalamo-hypophyseal axis are frequently associated with pituitary deficiency. We describe a previously unknown morphological presentation of the ectopic posterior neurohypophyseal "bright spot."

In subjects with neurofibromatosis type 1 (NF1), we show that a reduction in the visual field is the most sensitive indicator of gliomas along the optic pathway. Therefore, we conclude that a visual field evaluation is the most sensitive clinical test among those evaluated to predict the presence of optic pathway pathology on an MRI examination. These data may contribute to the establishment of more precise guidelines for the evaluation and treatment of children with NF1.

Purpose: To investigate the relationship between Magnetic Resonance (MR) findings and the presence of isolated growth hormone deficiency (IGHD) or multiple pituitary hormone deficiency (MPHD)., Material and Methods: 39 children, 27 boys and 12 girls (mean age 9.6 years) were enrolled. The growth hormone deficiency and MPHD were defined by standard laboratory methods. MR scans of the hypothalamo-hypophyseal tract were carried out on all patients before the therapy. Perinatal histories were reviewed., Results: The pituitary anterior lobe was considered small in 13/39 (33%). Twenty-six of 39 (66%) patients did not show any abnormalities of the hypothalamohypophyseal tract. An ectopic neurohypophysis was found in 8/39 patients (20%). Only 2 patients among those with an ectopic neurohypophysis showed a small anterior pituitary lobe. Thirty-three of 39 (84.6%) patients showed IGHD while 6/39 (15.4%) patients showed MPHD. Twenty-eight of 39 (71%) patients had a severe deficiency while 11/39 (28%) patients had a moderate deficiency., Conclusion: Our study confirms the usefulness of MRI in the diagnostic and therapeutic approach to short stature in children; in fact 48% of patients in our series showed MR findings reasonably related to hormonal deficiency.

Purpose: The goal of this work was to describe MR findings (morphology, structure, signal intensity) of ovarian non-Hodgkin lymphoma (NHL)., Method: We reviewed the MR images of five female patients aged 13-70 years (mean 46 years) with histologically proven NHL of the ovaries. We evaluated morphological and signal intensity findings of the lesions. MR features were correlated with pathologic parameters., Results: All the patients were affected by B-cell NHL; one patient showed a primary involvement of the ovaries; in one patient, ovarian disease was diagnosed 30 months after surgical resection of a primary uterine lymphoma; the remaining three had a systemic lymphoma. In three cases, the ovarian involvement was bilateral. The mean size of the lesions was 7.9 cm. All the lesions showed homogeneous low signal intensity on T1-weighted images and intermediate to high intensity on T2-weighted images. The postgadolinium images showed mild to moderate heterogeneous enhancement. The peripheral enhancement was better demonstrated in fat-suppressed images., Conclusion: The diagnosis of primary ovarian lymphoma should be considered in the presence of large bilateral solid ovarian masses with homogeneous appearance (low signal on T1 and mildly high on T2) without infiltrative pattern of growth or regressive changes (necrosis, hemorrhage, calcifications) and with little contrast enhancement.

A patient with neurofibromatosis type 1 was found to have an enhancing mass in the hypothalamus and in the anterior optic pathway. A 3-month MR study showed a reduction in the size and enhancement of the mass. At a 9-month MR follow-up the mass disappeared and ceased to enhance. This report shows the unusual behaviour of a hypothalamic/chiasmatic mass confirming that in such asymptomatic cases the conservative management can be considered the treatment of choice.

In 1995, as a result of the observation of Rhabdoid elements among the other components of a Teratoid/Rhabdoid tumor (TRT), a new nomenclature was introduced, Atypical Teratoid/Rhabdoid Tumor (ATRT) of infancy and childhood. We report the clinical history and radiological findings in a child affected by central nervous system (CNS) ATRT.