Mucopolysaccharidosis (MPS) is an inherited metabolic disease and a member of the group of lysosomal storage disorders. Its hallmark is a deficiency of lysosomal enzymes involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). The products of GAG degradation accumulate within lysosomes and in the extracellular space, thereby interfering with the degradation of other macromolecules. This process leads to chronic degeneration of cells, which in turn affects multiple organs and systems. There are seven distinct types of MPS (I, II, III, IV, VI, VII, and IX), which are divided into subtypes according to the deficient enzyme and the severity of the clinical picture. Although clinical manifestations vary considerably among the different types of MPS, the central nervous system (CNS) is characteristically affected, and magnetic resonance (MR) imaging is the method of choice to evaluate brain and spinal cord abnormalities. Enlarged perivascular spaces, white matter lesions, hydrocephalus, brain atrophy, cervical spinal canal stenosis with or without spinal cord compression and myelopathy, and bone abnormalities in the skull and spine (dysostosis multiplex) are typical imaging findings described in the literature and reviewed in this article. The differential diagnosis of MPS is limited because the constellation of imaging findings is highly suggestive. Thus, radiologists should be aware of its typical neuroimaging findings so they can recognize cases not yet diagnosed, exclude other metabolic diseases, monitor CNS findings over time, and assess treatment response. (©)RSNA, 2016.

The term rhombencephalitis refers to inflammatory diseases affecting the hindbrain (brainstem and cerebellum). Rhombencephalitis has a wide variety of etiologies, including infections, autoimmune diseases, and paraneoplastic syndromes. Infection with bacteria of the genus Listeria is the most common cause of rhombencephalitis. Primary rhombencephalitis caused by infection with Listeria spp. occurs in healthy young adults. It usually has a biphasic time course with a flu-like syndrome, followed by brainstem dysfunction; 75% of patients have cerebrospinal fluid pleocytosis, and nearly 100% have an abnormal brain magnetic resonance imaging scan. However, other possible causes of rhombencephalitis must be borne in mind. In addition to the clinical aspects, the patterns seen in magnetic resonance imaging can be helpful in defining the possible cause. Some of the reported causes of rhombencephalitis are potentially severe and life threatening; therefore, an accurate initial diagnostic approach is important to establishing a proper early treatment regimen. This pictorial essay reviews the various causes of rhombencephalitis and the corresponding magnetic resonance imaging findings, by describing illustrative confirmed cases.

Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.

To assess the usefulness of cord blood tests in diagnosing ABO-haemolytic disease of the newborn (ABO-HDN), 132 term, adequate for gestational age (AGA) neonates were evaluated. The tests studied and their significant results were: quantitative elution test (greater than or equal to 1/16), direct Coombs test (positive), bilirubin concentration (greater than or equal to 4 mg/dl). In none of the 56 O+ newborn infants delivered by O+ women were the results of any test positive. Of the 76 A+ and B+ newborn infants delivered by O+ women, 17 (22%) developed ABO-HDN. When the combined result of any two tests was positive, the sensitivity, the specificity and the positive predictive accuracy for the diagnosis of ABO-HDN was higher than for any one of the isolated tests. The probability that ABO-HDN was present when the results of at least two cord blood tests were positive was 70%, and the probability that ABO-HDN was not present when less than two cord blood tests gave positive results was 93%. It is suggested that the combination of quantitative elution test, bilirubin concentration and direct Coombs test in the cord blood is useful for an early diagnosis of ABO-HDN.

S100beta is a soluble protein released by glial cells mainly under the activation of the 5-HT1A receptor. It has been reported as a neuro-trophic and -tropic factor that promotes neurite maturation and outgrowth during development. This protein also plays a role in axonal stability and the plasticity underlying long-term potentiation in adult brains. The ability of S100beta to rapidly regulate neuronal morphology raises the interesting point of whether there are daily rhythm or gender differences in S100beta level in the brain. To answer this question, the S100beta expression in adult female and male rats, as well as in adult female CD-21 and S100beta -/- female mice, were investigated. Scintillation counting and morphometric analysis of the immunoreactivity of S100beta, showed rhythmic daily expression. The female and male rats showed opposite cycles. Females presented the highest value at the beginning of the rest phase (5:00 h), while in males the maximum value appeared in the beginning of the motor activity period (21:00 h). These results confirm previous S100beta evaluations in human serum and cerebrospinal fluid reporting the protein's function as a biomarker for brain damage (Gazzolo et al. in Clin Chem 49:967-970, 2003; Clin Chim Acta 330:131-133, 2003; Pediatr Res 58:1170-1174, 2005), similar behavior was also observed for GFAP in relation to Alzheimer Disease (Fukuyama et al. in Eur Neurol 46:35-38, 2001). The data should be taken into account when considering S100beta as a biomarker of health condition. In addition, the results raise questions on which structure or condition imposes these rhythms as well as on the physiological meaning of the observed gender differences.

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Aims: The main objective of this thesis was to explore the cognitive and behav-ioural consequences of hydrocephalus in children born at term and preterm, with or without myelomeningocele (MMC) and with or without concomitant neurological impairments, such as cerebral palsy (CP), epilepsy or learning disabilities. Material and methods: From a population-based cohort of all 107 children with hydrocephalus born in 1989-1993, 73 of the surviving children were assessed with intelligence tests and most of them also using behavioural and autism rating scales. Thirty-six of 47 (77%) children with an IQ of ≥ 70 and eight children with MMC but no hydrocephalus were assessed with a neuropsychological test battery (NIMES) and compared with age-and gender-matched controls. Results: One-third of the children were normally gifted (IQ > 85), another 30% had a low-average IQ of 70-84 and 37% had learning disabilities (IQ < 70). An IQ of < 70 was found in 42% of children without MMC and in 29% of those with MMC. Children born preterm had a lower IQ than those born at term. Children with CP and/or epilepsy had significantly lower IQ scores than those without these impairments. Parents rated 67% and teachers 39% of the children as having behav-ioural problems. Learning disabilities increased the risk significantly. Almost all the children with CP and/or epilepsy had behavioural problems. Learning disabilities, CP and epilepsy significantly increased the risk of autistic symptoms, which were present in 13 %, in 4 % of those with MMC and in 20 % of those without MMC. Children with hydrocephalus both with and without MMC and with an IQ of > 70 performed significantly less well than controls on learning, memory and executive functions but not on registration skills. There were no differences between children with hydrocephalus in combination with MMC and those without MMC, whereas children with MMC but no hydrocephalus and normal intelligence performed as well as controls on all the neuropsychological functions. Conclusions: The majority of children with hydrocephalus had learning disabilities or a low-average IQ, as well as behavioural problems, and some had autistic symptoms. Despite average or slightly below average intelligence, children with hydro-cephalus had major difficulties with learning and memory and with executive functions , regardless of the aetiology of the hydrocephalus. Only MMC did not appear to influence cognitive and neuropsychological outcome as much as the brain lesion causing or caused by the hydrocephalus.

Fungal infections of the central nervous system (CNS) are rare. However, because of the increase in the number of immunocompromised individuals, they have been gaining prominence in the differential diagnosis of CNS infections. Imaging techniques are sensitive for detecting and localizing an abnormality, in many cases allowing the origin of a lesion to be categorized as infectious, inflammatory, neoplastic, or vascular. This essay illustrates the magnetic resonance imaging and computed tomography findings of the most common fungal infections of the CNS, based on the experience of the Radiology Department of the Hospital de Clínicas de Porto Alegre, in the city of Porto Alegre, RS, Brazil.