Brainstem tegmental lesions in neonates with hypoxic-ischemic encephalopathy: Magnetic resonance diagnosis and clinical outcome.

Lesions of the brainstem have been reported in the clinical scenarios of hypoxic-ischemic encephalopathy (HIE), although the prevalence of these lesions is probably underestimated. Neuropathologic studies have demonstrated brainstem involvement in severely asphyxiated infants as an indicator of poor outcome. Among survivors to HIE, the most frequent clinical complaints that may be predicted by brainstem lesions include feeding problems, speech, language and communication problems and visual impairments. Clinical series, including vascular and metabolic etiologies, have found selective involvement of the brainstem with the demonstration of symmetric bilateral columnar lesions of the tegmentum. The role of brainstem lesions in HIE is currently a matter of debate, especially when tegmental lesions are present in the absence of supra-tentorial lesions. Differential diagnosis of tegmental lesions in neonates and infants include congenital metabolic syndromes and drug-related processes. Brainstem injury with the presence of supratentorial lesions is a predictor of poor outcome and high rates of mortality and morbidity. Further investigation will be conducted to identify specific sites of the brainstem that are vulnerable to hypoxic-ischemic and toxic-metabolic insults.

Magnetic resonance imaging differential diagnosis of brainstem lesions in children.

Differential diagnosis of brainstem lesions, either isolated or in association with cerebellar and supra-tentorial lesions, can be challenging. Knowledge of the structural organization is crucial for the differential diagnosis and establishment of prognosis of pathologies with involvement of the brainstem. Familiarity with the location of the lesions in the brainstem is essential, especially in the pediatric population. Magnetic resonance imaging (MRI) is the most sensitive and specific imaging technique for diagnosing disorders of the posterior fossa and, particularly, the brainstem. High magnetic static field MRI allows detailed visualization of the morphology, signal intensity and metabolic content of the brainstem nuclei, together with visualization of the normal development and myelination. In this pictorial essay we review the brainstem pathology in pediatric patients and consider the MR imaging patterns that may help the radiologist to differentiate among vascular, toxico-metabolic, infective-inflammatory, degenerative and neoplastic processes. Helpful MR tips can guide the differential diagnosis: These include the location and morphology of lesions, the brainstem vascularization territories, gray and white matter distribution and tissue selective vulnerability.

MR differential diagnosis of acute deep grey matter pathology in paediatric patients.

A high metabolic demand, rich vascularization and high concentrations of ionic elements leading to the generation of oxygen free radicals, give to the deep grey matter (DGM) nuclei specific susceptibility to both acute and chronic insults, especially in paediatric patients. Reaching a diagnosis in the early stages of acute diseases in many patients is crucial for instigating prompt specific therapy leading to a favourable outcome. On the basis of a review of a 10-year in-house database and a review of the literature on CNS pathology involving the DGM nuclei in paediatric patients, we summarize the MR findings and clinical clues that may help the radiologist in the difficult differential diagnosis process. The terms "acute" and "chronic" refer to the clinical onset of the disease. MR imaging allows the detection of an injury, determination of its precise anatomical location and characterization of the signal changes. This, combined with a knowledge of specific MRI patterns, may be a roadmap to a definite diagnosis. Clinical history, physical and laboratory findings, timing of the MR examination and advanced MR imaging techniques (diffusion-weighted imaging and (1)H-MR spectroscopy), are crucial in some patients.

Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by involvement of tissues of ectodermal and mesodermal origin such as skin, eye, adipose tissue, and brain. Since 1970, when Haberland and Perou had described the first patient, 54 cases of ECCL have been reported in literature. We report on three new boys with ECCL. In addition to their typical dermal, ocular and central nervous system anomalies, one of them had a spheno-ethmoidal osseous lesion. Histopathological evaluation confirmed the benign nature of the lesion and was consistent with fibrous dysplasia. The aim of our study is to review clinical records and brain imaging studies of these three new patients with ECCL and compare these findings with those reported in literature to better define the phenotypic spectrum and radiological findings in ECCL.

Parry-Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features.

Parry-Romberg syndrome (PRS) is a sporadic disease of unknown etiology with typical onset in childhood or in young adults. It is characterized by a slow and progressive atrophy affecting one side of the face, the skin, the subcutaneous tissue, the muscles, the cartilages, and the underlying bony structures. The neurological symptoms usually include focal epilepsy, migraine, and unilateral brain lesions on the same side as the atrophy. A common neuroimaging finding of the syndrome is white matter high signal intensity on brain magnetic resonance (MR) imaging. Rasmussen encephalitis (RE) is a rare and chronic inflammatory disease of the brain that begins in the first decade of life and more rarely in adolescents and adults. It usually involves one hemisphere with focal cortical inflammation. Neurologic symptoms are intractable seizures and progressive hemiplegia. Both PRS and RE are often associated with other inflammatory or autoimmune disorders and only 1 case of both syndromes has been reported in literature. We report the clinical and neuroradiological findings in a 6-year-old boy, presenting with focal hemifacial and arm motor seizures and progressive facial hemiatrophy. Serial MR imaging studies revealed progressive brain hemispheric signal alterations and atrophy. This would thus suggest acoexistence of PRS and RE.

Gray matter decrease distribution in the early stages of Anorexia Nervosa restrictive type in adolescents.

Few studies have used Voxel-Based Morphometry (VBM) to examine brain structure in Anorexia Nervosa patients. The purpose of the present study was to investigate a sample of Anorexia Nervosa restrictive type (AN-r) adolescent patients in the early stages of the illness, using VBM in order to characterize morphometric gray matter (GM) changes. Participants were 16 AN-r female patients (with no other psychiatric disorders) whose AN-r had been in progress for less than 12 months and 16 age-matched healthy female subjects. High-resolution T1-weighted magnetic resonance images were preprocessed according to the optimized VBM method, and statistically analyzed. The analyses revealed a significant global GM decrease in the AN-r patients; furthermore, a significant region-specific decrease in GM volume was found bilaterally in the middle cingulate cortex, the precuneus, and the inferior and superior parietal lobules. The significant early GM decrease in the aforementioned regions in AN-r adolescent patients suggests that there might be a region-specific GM vulnerability that could play a role in the pathophysiology of the disease. Given that these regions are also involved in the manipulation of mental images and the mental representation of the self, this might explain the presence of a distorted body image in these patients.

MRI findings in an adolescent with type I citrullinaemia.

Citrullinaemia is a rare inborn error of urea cycle metabolism. We describe the MRI findings in a 16-year-old boy with type I citrullinaemia during an episode of acute hyperammonaemic encephalopathy and compare them to his previous follow-up MRI studies. MRI revealed bilateral high signal intensity in the cingulate, perirolandic, parietal and temporoinsular cortex, the subcortical white matter and left thalamus. Diffusion-weighted imaging showed high signal intensity and low apparent diffusion coefficient values in the frontoparietal lobes. To our knowledge, MRI findings in an adolescent with type I citrullinaemia have not been previously reported. Since our patient's neuroradiological findings showed greater similarity to type II citrullinaemia, we think his brain injury during this acute episode was probably age-related and independent of the type of citrullinaemia.

Visual recognition and visually guided action after early bilateral lesion of occipital cortex: a behavioral study of a 4.6-year-old girl.

We report the case of a 4.6-year-old girl born pre-term with early bilateral occipital damage. It was revealed that the child had non-severely impaired basic visual abilities and ocular motility, a selective perceptual deficit of figure-ground segregation, impaired visual recognition and abnormal navigating through space. Even if the child's visual functioning was not optimal, this was the expression of adaptive anatomic and functional brain modifications that occurred following the early lesion. Anatomic brain structure was studied with anatomic MRI and Diffusor Tensor Imaging (DTI)-MRI. This behavioral study may provide an important contribution to understanding the impact of an early lesion of the visual system on the development of visual functions and on the immature brain's potential for reorganisation related to when the damage occurred.

Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease).

A 4-month-old-girl affected by early expression of Krabbe's disease was treated with allogeneic bone marrow transplantation (BMT). The stem cell donor was her heterozygous HLA-identical mother. The central nervous system (CNS) involvement at diagnosis was evident, but minimal. After BMT the child presented a severe hypotonia and an acute tetraventricular hydrocephalus; she died 180 days after the BMT with progressive severe neurologic deterioration. Leukocyte galactocerebrosidase (GALC) activity was present at donor levels 20 days after BMT. Full donor chimerism was evident 18 days after BMT. This report confirms that in early onset "Krabbe's syndrome" if the diagnosis is delayed after the birth, the progression of the neurologic deterioration is not reversed by BMT. It is to be demonstrated if a very early hemopoietic stem cell transplantation during the first weeks of life, could be appropriate and efficacious.