Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).

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.

Vasogenic edema characterizes pediatric acute disseminated encephalomyelitis.

INTRODUCTION: MR imaging criteria for diagnosing acute disseminated encephalomyelitis (ADEM) have not been clearly established. Due to the wide spectrum of differential considerations, new imaging features allowing early and accurate diagnosis for ADEM are needed. We hypothesized that ADEM lesions would be characterized by vasogenic edema due to the potential reversibility of the disease. METHODS: Sixteen patients who met the diagnostic criteria for ADEM proposed by the International Pediatric Multiple Sclerosis Study Group (IPMSSG) and had complete MR imaging studies performed at our institution during the acute phase of the disease were identified retrospectively and evaluated by experienced pediatric neuroradiologists. RESULTS: Vasogenic edema was demonstrated on diffusion-weighted imaging (DWI) and corresponding apparent diffusion coefficient (ADC) maps in 12 out of 16 patients; cytotoxic edema was identified in two patients while the other two patients displayed no changes on DWI/ADC. ADC values for lesions and normal-appearing brain tissue were 1.39 ± 0.45 × 10(-3) and 0.81 ± 0.09 × 10(-3) mm/s(2), respectively (p=0.002). When considering a cutoff of 5 days between acute and subacute disease, no difference between ADC values in acute vs. subacute phase was depicted. However, we found a significant correlation and an inverse and significant relationship between time and ADC value. CONCLUSION: We propose that vasogenic edema is a reliable diagnostic sign of acute neuroinflammation in ADEM.

Noncompaction cardiomyopathy in children with congenital heart disease: evaluation using cardiovascular magnetic resonance imaging.

Noncompaction of the left ventricle, a genetic cardiomyopathy with a reported incidence of 0.05% to 0.24%, can lead to sudden cardiac death, particularly among children, if left undetected. Because the diagnosis of isolated noncompaction cardiomyopathy (NCM) can be overlooked, its association with other congenital heart diseases (CHDs) makes the diagnosis of NCM even more difficult. This study aimed to assess the impact of NCM on the cardiovascular physiology of children with coexisting CHDs evaluated by cardiovascular magnetic resonance imaging. A case-control study was performed with 12 children (6 patients with combined NCM and CHD and 6 control subjects with isolated CHD). The mean left ventricular end-diastolic and end-systolic volume indices were significantly higher in the CHD patients presenting with NCM than in the CHD patients with no NCM (P = 0.028). However, no differences were observed for right ventricular end-diastolic and end-systolic volume indices, biventricular ejection fractions, stroke volumes and indices, left ventricular wall thickness, left ventricular fractional shortening, cardiac output, or cardiac index. This study suggests that NCM in children with CHDs increases left ventricular volumes, and larger studies are required to demonstrate other changes (e.g., ejection fraction, stroke volume) that were close to being significant.

Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion.

We report on a 22-year-old male carrying a presumptive clinical diagnosis of Dubowitz-like phenotype who has been followed-up by cardiology for bicuspid aortic valve with ascending aorta and aortic root dilatation. Cardiac magnetic resonance imaging (CMRI) confirmed these findings, along with an incidental finding of left ventricular non-compaction (LVNC). Genetic workup revealed the diagnosis of 22q11.2 distal deletion encompassing the BCR gene. This is the first time LVNC has been reported in a patient with 22q11.2 distal deletion.

Neuroimaging findings in alcohol-related encephalopathies.

OBJECTIVE: Our aim was to review the emergent neuroimaging findings of alcohol-related CNS nontraumatic disorders. Alcohol (ethanol) promotes inflammatory processes, increases DNA damage, and creates oxidative stress. In addition, the accompanying thiamine deficiency may lead to Wernicke encephalopathy. Associated changes in serum osmolarity may lead to acute demyelination. CONCLUSION: Alcohol-related encephalopathies can be life-threatening conditions but can be prevented or treated, if recognized.

Neuroimaging findings in pediatric Wernicke encephalopathy: a review.

Wernicke encephalopathy (WE) is an acute neurological disease resulting from dietary thiamine (vitamin B1) deficiency. WE is characterized by changes in consciousness, ocular dysfunction, and ataxia. Neuroradiologic findings usually show symmetric signal intensity alterations in the mammillary bodies, medial thalami, tectal plate, and periaqueductal area. Selective involvement of the cranial nerve nuclei, cerebellum, red nuclei, dentate nuclei, fornix, splenium, cerebral cortex, and basal ganglia characterize nonalcoholic WE patients. Furthermore, symmetric basal ganglia alterations with involvement of the putamen have only been observed in children. The incidence of WE is underestimated in both adult and pediatric patients. Interestingly, the frequency of WE in children appears to be similar to that observed in adults. The prognosis of the disease largely depends on the time from diagnosis to thiamine supplementation. The aim of this pediatric literature review is to provide an update on neuroradiologic findings in children affected by WE in an effort to determine pertinent clinical and imaging findings that can improve the detection and early identification of the disease. A thorough knowledge of the MRI findings of WE will assist in arriving at an early diagnosis, thereby reducing the morbidity and mortality associated with this disease in children.

Subdural hematoma in a patient with spontaneous intracranial hypotension and cerebral venous thrombosis.

We report a patient with clinical and neuroimaging findings of spontaneous intracranial hypotension (SIH) who developed cerebral venous thrombosis (CVT). An association between SIH and CVT has rarely been observed. Anticoagulation therapy was administered. The clinical course was subsequently complicated by a large subdural hematoma that required neurosurgical evacuation. The present report indicates that SIH should not be always considered a benign condition, especially when associated with CVT and subdural fluid collections. Furthermore, clinicians should be aware of the potential risks of anticoagulant therapy in patients with SIH and CVT.

Longitudinally extensive transverse myelitis in systemic lupus erythematosus: case report and review of the literature.

OBJECTIVE: To report a case of longitudinally extensive transverse myelitis (LETM), a rare but disabling condition defined as a lesion of the spinal cord that extends over four or more vertebrae on MRI, in association with systemic lupus erythematosus (SLE). METHODS: We present a rare case of LETM involving the cervical and thoracic spinal cord in a patient with SLE and review the existing literature on the association of lupus-associated myelitis. RESULTS: LETM is included within the diagnostic criteria for Neuromyelitis Optica (NMO), but is also known to be associated with a wide range of auto-immune diseases. Only 37 cases of LETM in patients with SLE have been previously described. We performed an updated review on epidemiology, pathophysiology, clinical features, diagnosis, management, and prognosis of LETM in the setting of SLE. CONCLUSION: Due to the generally poor prognosis of LETM in SLE patients, prompt diagnosis and treatment is of critical importance for a positive clinical outcome. We provide a comprehensive perspective of past and current literature in order to aid diagnosis and management of this rare phenomenon.

Phase-contrast cine MRI revealing en valve mechanism in spontaneous third ventriculostomy: report of a case and literature review.

A 50-year-old epileptic woman affected by hydrocephalus due to aqueductal stenosis was admitted to the hospital because of headache, dysarthria, and mild lateral pulsion. Cranial computed tomography (CT) revealed left cerebellar hemorrhage. Subsequent magnetic resonance imaging (MRI) of the brain demonstrated an enlarged ventricular system unchanged from prior studies. Flow-sensitive phase-contrast (PC) cine magnetic resonance imaging showed flow absence through the aqueduct and flow pulsations through the third ventricle floor in systole and diastole, consistent with spontaneous third ventricle patency. On stationary tissue images, the third ventricle floor and the mamillary body were displaced downward at systole and upward at diastole. Stenosis of the cerebral aqueduct of Sylvius was also shown. Retrospective evaluation of the sagittal T2-weighted images disclosed flow void at the level of the third ventricle floor. On-off movements of the third ventricle floor could account for chronic hydrocephalus persistence by an en valve mechanism. Spontaneous third ventriculostomy (STV) was diagnosed on the basis of these findings. STV is a rare condition occurring in chronic obstructive hydrocephalus patients as a result of longstanding pulsations against the walls of the third ventricle, the floor in particular. We reviewed the literature to establish which imaging and clinical findings could improve the identification of STV in patients affected by obstructive hydrocephalus.