Developmentally anomalous cerebellar encephalocele arising within the cerebellopontine angle and extending into the adjacent skull base in a pediatric patient.

Lesions of the cerebellopontine angle (CPA) in young children are rare, with the most common being arachnoid cysts and epidermoid inclusion cysts. The authors report a case of an encephalocele containing heterotopic cerebellar tissue arising from the right middle cerebellar peduncle and filling the right internal acoustic canal in a 2-year-old female patient. Her initial presentation included a focal left 6th nerve palsy. Magnetic resonance imaging was suggestive of a high-grade tumor of the right CPA. The lesion was removed via a retrosigmoid approach, and histopathologic analysis revealed heterotopic atrophic cerebellar tissue. This report is the first description of a heterotopic cerebellar encephalocele within the CPA and temporal skull base of a pediatric patient.

Correction to: A consensus response on the complete picture: reply to Lynøe and Eriksson.

The original version on this paper contained an error. The COI statement is incorrectly presented.

Consensus statement on abusive head trauma in infants and young children.

Abusive head trauma (AHT) is the leading cause of fatal head injuries in children younger than 2 years. A multidisciplinary team bases this diagnosis on history, physical examination, imaging and laboratory findings. Because the etiology of the injury is multifactorial (shaking, shaking and impact, impact, etc.) the current best and inclusive term is AHT. There is no controversy concerning the medical validity of the existence of AHT, with multiple components including subdural hematoma, intracranial and spinal changes, complex retinal hemorrhages, and rib and other fractures that are inconsistent with the provided mechanism of trauma. The workup must exclude medical diseases that can mimic AHT. However, the courtroom has become a forum for speculative theories that cannot be reconciled with generally accepted medical literature. There is no reliable medical evidence that the following processes are causative in the constellation of injuries of AHT: cerebral sinovenous thrombosis, hypoxic-ischemic injury, lumbar puncture or dysphagic choking/vomiting. There is no substantiation, at a time remote from birth, that an asymptomatic birth-related subdural hemorrhage can result in rebleeding and sudden collapse. Further, a diagnosis of AHT is a medical conclusion, not a legal determination of the intent of the perpetrator or a diagnosis of murder. We hope that this consensus document reduces confusion by recommending to judges and jurors the tools necessary to distinguish genuine evidence-based opinions of the relevant medical community from legal arguments or etiological speculations that are unwarranted by the clinical findings, medical evidence and evidence-based literature.

Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.

BACKGROUND: Guanidinoacetate methyltransferase (GAMT) deficiency causes cerebral creatine deficiency. Patients can have autistic behavior, seizures, intellectual disability, and severe speech delay. The goal of therapy is to increase creatine while reducing potentially neurotoxic guanidinoacetate concentrations. Here we evaluate how different therapies affect plasma guanidinoacetate levels in patients with GAMT deficiency. METHODS: Retrospective analysis of data from five new patients with GAMT deficiency (four with delays and seizures, one diagnosed at birth). RESULTS: The four symptomatic patients had decreased brain creatine by magnetic resonance spectroscopy and three also had abnormal globi pallidi by MRI. GAMT sequencing identified four previously reported mutations and one novel missense mutation (c.233T>A/p.V78E). Treatment with creatine (250-1000 mg/kg/day), ornithine (100-800 mg/kg/day), and sodium benzoate (50-135 mg/kg/day) supplements along with dietary protein restriction (0.8-1.5 g/kg/day) improved seizures and development with all patients becoming verbal. The patient treated at birth remains developmentally normal. Reduction in glycine and increase in ornithine levels significantly decreased plasma guanidinoacetate, with glycine levels being the best predictor of guanidinoacetate levels. In contrast, arginine levels were not significantly correlated with plasma guanidinoacetate. CONCLUSIONS: Our results show that supplements of creatine, sodium benzoate (to reduce glycine) and ornithine reduce guanidinoacetate levels in patients with GAMT deficiency (dietary therapy was not evaluated in our study). Normal development with early therapy renders GAMT deficiency an ideal candidate for inclusion in newborn screening panels.

Cerebral sinovenous thrombosis in pediatric practice.

Cerebral sinovenous thrombosis (CSVT) in the pediatric population is a relatively uncommon yet under-appreciated and potentially life-threatening neurological condition. Early symptoms and signs are often vague and the clinician requesting a cranial imaging study might not even suspect sinovenous thrombosis. If left undiagnosed, or if the diagnosis of CSVT is delayed, progressive neurological deterioration, coma and death can follow. The purpose of this review is to highlight pertinent development of the cerebral venous system, discuss the causal factors of cerebral sinovenous thrombosis in the pediatric population, review practical imaging strategies using cranial sonography augmented with color and pulsed Doppler, unenhanced brain CT, CT venography, cerebral MRI, and MR venography (MRV). Finally, this review will illustrate the imaging features of sinovenous thrombosis, including a discussion of the common causes of false-positive and false-negative CT and MRI studies.

Primary lesions of the root of the tongue.

In the assessment of the head and neck, differential diagnoses can be formulated by subdividing the anatomy into spaces along identifiable and logical boundaries. In the oral cavity, the root of the tongue is notably unlike adjacent regions due to structural and tissue-specific differences. The majority of lesions found in the root of the tongue are congenital and benign, representing ectopic tissues of thyroidal, epidermal, dermal, foregut, venous, and lymphatic origin. A greater number of acquired neoplasms and infections are seen in the adjacent sublingual, submandibular, and oropharyngeal regions of the base of the tongue, presumably due to their greater exposure to mucosal surfaces and lymphatic tissues. Many lesions of the root of the tongue have clinical and imaging characteristics that can help narrow the differential diagnosis, and surgical management may be required. Familiarity with these lesions and how they differ from other lesions of the oral cavity and oropharynx can significantly aid in their diagnosis and treatment.

Brain Magnetic Resonance Imaging in Congenital Cytomegalovirus With Failed Newborn Hearing Screen.

BACKGROUND: In 2013, Utah enacted legislation requiring that infants failing newborn hearing screening be tested for cytomegalovirus infection. As a result, cytomegalovirus-infected infants are being identified because of hearing deficits. The neuroimaging findings in this population have not been characterized. METHODS: Retrospective medical record review was used to identify patients seen at the University of Utah and Primary Children's Hospitals in Salt Lake City, Utah, who failed newborn hearing screening. A cohort of patients with congenital cytomegalovirus infection, brain magnetic resonance imaging (MRI), and sedated auditory brainstem response testing was studied. RESULTS: Seventeen patients were identified; 11 (65%) were female. Confirmatory auditory brainstem response testing, performed at a median age 29 days, showed profound hearing loss in 8 (47%) subjects, severe loss in two (12%), moderate loss in two (12%), and mild loss in three (18%); two (12%) subjects had normal hearing. The diagnosis of cytomegalovirus infection was made at a median age 23 days. Brain imaging was performed at a median age 65 days. Ten (59%) subjects had one or more neuroimaging abnormality. White matter lesions were found in eight (47%) subjects, cysts in three (18%), and stroke in two (12%). Polymicrogyria was identified in two (12%) subjects. Seven (41%) subjects had normal brain MRIs. CONCLUSIONS: These results indicate that most infants whose cytomegalovirus infections were identified after failing newborn hearing screening had abnormal brain MRIs. Our results suggest that brain MRIs should be considered in infants with congenital cytomegalovirus infections who are identified through hearing screening programs.

Tumefactive intracranial presentation of precursor B-cell acute lymphoblastic leukemia.

In children, leukemia is the most common malignancy, and approximately 75% of leukemias are acute lymphoblastic leukemia (ALL). Central nervous system leukemia is found at diagnosis in fewer than 5% of children with ALL. Leukemic intracranial masses have been described with acute myeloid leukemia, but ALL presenting as a mass lesion is rare. We describe a unique case of an intracranial confirmed precursor B cell (pre-B) ALL mass in a 13-year-old girl that was diagnosed by brain CT, MRI and cerebral angiography, and confirmed by biopsy. This report details pertinent history and distinguishing imaging features of an intracranial ALL tumefaction.

Neuroimaging of abusive head trauma.

The diagnostic process for evaluating suspected abusive head trauma in infants and children has evolved with technological advances in neuroimaging. Since Caffey first described a series of children with chronic subdural hematomas and multiple long bone fractures, radiologists have played an important role, along with pediatricians and pathologists, in evaluating abused children. Neuroimaging modalities include ultrasound, CT scans, and MRI technology. Each has distinct clinical applications, as well as practical uses in the clinical diagnostic process of AHT. Importantly, neuroimaging assists in the process of differential diagnosis of other conditions which may mimic AHT. Collaboration between neuroradiologists, clinicians, and pathologists remains critical to making the appropriate diagnosis. Careful history, physical examination, and investigation by legal authorities form the components that result in accurate assessment of any case. This paper reviews pertinent neuroimaging modalities currently utilized in the diagnosis of AHT, describing clinical indications and a collaborative approach to this process.

Progressive cerebral vascular degeneration with mitochondrial encephalopathy.

MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a maternally inherited disorder characterized by recurrent cerebral infarctions that do not conform to discreet vascular territories. Here we report on a patient who presented at 7 years of age with loss of consciousness and severe metabolic acidosis following vomiting and dehydration. She developed progressive sensorineural hearing loss, myopathy, ptosis, short stature, and mild developmental delays after normal early development. Biochemical testing identified metabolites characteristic of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (hexanoylglycine and suberylglycine), but also severe lactic acidemia (10-25 mM) and, in urine, excess of lactic acid, intermediates of the citric cycle, and marked ketonuria, suggesting mitochondrial dysfunction. She progressed rapidly to develop temporary cortical blindness. Brain imaging indicated generalized atrophy, more marked on the left side, in addition to white matter alterations consistent with a mitochondrial disorder. Magnetic resonance angiography indicated occlusion of the left cerebral artery with development of collateral circulation (Moyamoya syndrome). This process worsened over time to involve the other side of the brain. A muscle biopsy indicated the presence of numerous ragged red fibers. Molecular testing confirmed compound heterozygosity for the common mutation in the MCAD gene (985A>G) and a second pathogenic mutation (233T>C). MtDNA testing indicated that the muscle was almost homoplasmic for the 3243A>T mutation in tRNALeu, with a lower mutant load (about 50% heteroplasmy) in blood and skin fibroblasts. These results indicate that mitochondrial disorders may be associated with severe vascular disease resulting in Moyamoya syndrome. The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear.

Steroid treatment of hearing loss in enlarged vestibular aqueduct anomaly.

OBJECTIVE: 1. Determine whether corticosteroid therapy improves hearing thresholds of patients with enlarged vestibular aqueduct (EVA) anomaly. 2. Determine sample size for a future prospective study. METHODS: Retrospective chart review hearing loss in EVA patients comparing patients treated with corticosteroids and untreated patients. RESULTS: Eighty percent (n=5) of patients treated with steroids for hearing loss demonstrated audiometric improvement, compared to 14.3% of patients (n=7) not treated. The pure tone average improved by 17.7dB in the steroid treated group. A prospective, placebo-controlled trial would need between 19 and 45 patients in each group, treatment versus no-treatment, to achieve statistical significance. CONCLUSION: Patients with EVA who develop hearing loss have a high rate of hearing improvement when treated with corticosteroid therapy. The hearing improvement appears to be better than spontaneous recovery.

Intracranial Calcifications in Young Children.

Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic disorders. We describe 2 children in whom the presence and pattern of intracranial calcifications led to the diagnosis of uncommon genetic disorders, Adams-Oliver syndrome and Aicardi-Goutieres syndrome. Differentiating genetic conditions from intrauterine infections or other causes of intracranial calcifications enables practitioners to provide accurate counseling regarding prognosis and recurrence risk.

Vestibular symptoms in children with enlarged vestibular aqueduct anomaly.

OBJECTIVE: The objective of this study is to describe the vestibular symptoms in pediatric patients with enlarged vestibular aqueduct (EVA) anomaly. METHODS: Retrospective chart review of pediatric and adult patients with EVA anomaly who were treated at the University of Utah Hospital or Primary Children's Medical Center, between 1995 and 2005. Radiographs were reviewed to confirm the diagnosis. Comparisons were made between adult and pediatric patients. RESULTS: Thirty-two patients were included in the study, 17 females and 15 males. Twenty-one patients were under the age of 18 and 11 patients were age 18 or older. On initial audiometric evaluation at a tertiary hospital, the pure tone average in the right ear was 75.0 dB and the pure tone average in the left ear was 80.4 dB. The incidence of vestibular symptoms in adult patients was 45.5% and in pediatric patients was 48.0%. Fourteen patients underwent cochlear implantation. Four patients (28.6%) who previously denied vestibular symptoms experienced post-operative vertigo after cochlear implantation. CONCLUSIONS: About half of the patients with EVA in our series experienced vestibular symptoms. Pediatric patients in our series experienced vertigo and vestibular symptoms with equal frequency when compared to adult patients. Some patients with EVA undergoing cochlear implantation experienced vestibular symptoms in the post-operative period.

Recognition and Management of Acute Flaccid Myelitis in Children.

BACKGROUND: In 2014-2015, several regions of the United States experienced an outbreak of acute flaccid myelitis in pediatric patients. A common, unique feature was disease localization to the gray matter of the spinal cord. METHODS: We report 11 children, ages 13 months to 14 years (median 9 years), in the Intermountain West who presented with extremity weakness (n = 10) or cranial neuropathy (n = 1) of varying severity without an apparent etiology. RESULTS: All children experienced acute paralysis, and 10 had symptoms or signs that localized to the spinal cord. Maximum paralysis occurred within 4 days of onset in all patients. All had spinal gray matter lesions consistent with acute myelitis detected by magnetic resonance imaging; no single infectious cause was identified. Despite therapy with intravenous immunoglobulin, corticosteroids, or plasma exchange, nine of 10 (90%) children had motor deficits at follow-up. CONCLUSIONS: Recognition of this disorder enables clinicians to obtain appropriate imaging and laboratory testing, initiate treatment, and provide families with accurate prognostic information. In contrast to other causes of acute flaccid paralysis in childhood, most children with acute flaccid myelitis have residual neurological deficits.

Chiari I malformation in patients with FG syndrome.

OBJECT: The FG syndrome (FGS) is a common, heterogeneous group of clinically indistinguishable X-linked disorders comprising congenital hypotonia, macrocephaly, psychomotor delay, abnormalities in sensory integration, agenesis of corpus callosum, an unusual personality with behavior abnormalities, and disturbances of gastrointestinal function. On magnetic resonance (MR) imaging, some patients have evidence of tonsillar ectopia. The authors describe the incidence of Chiari I malformation in patients with FGS and attempt to determine the optimal treatment of these patients. METHODS: The authors performed a retrospective chart and radiological review of 144 pediatric patients with FGS for evidence of tonsillar ectopia on brain MR imaging. Eleven (7.6%) of these 144 patients had tonsillar ectopia, and in eight patients (5.6%), the tonsils were located more than 5 mm below the foramen magnum. Four of these patients underwent posterior fossa decompression, and surgery was performed at a mean age of 3 years. Indications for surgery included significant headaches and behavioral problems in two patients and failure to thrive with severe breathing and feeding difficulties in two infants. All four improved after surgery. The other patients remained asymptomatic from their tonsillar ectopia, showed no clinical or radiological signs of progression, and did not require surgery. CONCLUSIONS: Chiari I malformation is more common in individuals with FGS than in the general population. Some of these patients with FGS require decompression surgery, but the decision to operate can be difficult because of their developmental delay, difficulties with language skills, general fatigue, possibility of upper motor neuron dysfunction, behavioral problems, or failure to thrive, which may mask the symptoms of a Chiari I malformation.

Common pediatric head and neck congenital/developmental anomalies.

Pediatric head and neck neuroradiology is a broad and complex topic. This article focuses on several of the common and sometimes challenging pediatric head and neck congenital/developmental anomalies physicians may encounter in clinical practice. Although some diagnoses may be evident on physical examination, others may present a diagnostic dilemma. Patients may initially present with a variety of secondary findings. Imaging serves an important role in making a diagnosis, guiding referral, and in some cases even providing treatment options through interventional radiology. Key diagnostic criteria and critical points of interest for each diagnosis are presented.

Neuroradiology of the central nervous system in childhood.

The purpose of this article is to familiarize readers with new imaging applications, identify the relative strengths of imaging modalities, and emphasize practical applications of imaging the child's nervous system. Because of recent advances in MRI, the article emphasizes the expanding role of MRI in evaluating children with neurologic disease.