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.
View Article and Find Full Text PDFDifferential 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.
View Article and Find Full Text PDFA 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.
View Article and Find Full Text PDFEncephalocraniocutaneous 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.
View Article and Find Full Text PDFFew 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.
View Article and Find Full Text PDFMenkes disease (MD) is an infantile-onset X-linked recessive neurodegenerative disorder caused by deficiency or dysfunction of a copper-transporting ATPase, ATP7A. The effect of altered transportation of copper may affect various enzymatic functions differently. Among all enzymatic functions, lysyl-oxidase enzymatic activity, which is crucial in the formation of the lysine-derived cross-links in collagen and elastin, is the most sensitive to the copper transport alterations.
View Article and Find Full Text PDFParry-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.
View Article and Find Full Text PDFCitrullinaemia 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.
View Article and Find Full Text PDFWe 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.
View Article and Find Full Text PDFA 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.
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