Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is ...typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil. We present a review on the neuroimaging, ophthalmologic and neurophysiologic clues for ARSACS diagnosis. The early-onset, slowly progressive, spastic-ataxia phenotype of reported patients was similar to ARSACS patients from Quebec. The SACS sequencing revealed the novel homozygous c.5150_5151insA frameshift mutation confirming the ARSACS diagnosis. ARSACS is a frequent cause of early onset ataxia/spastic-ataxia worldwide, with unknown frequency in Brazil.
To describe survival and neurological outcomes after HSCT for these disorders.
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.
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.
Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.
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
is the most common cause of rhombencephalitis. Primary rhombencephalitis caused by infection with
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.
To present a quantitative system for assessing the quality of ultrasound examinations-SQUALUS-and to determine its reproducibility, taking into consideration the images on file, as well as the ...consistency between the images obtained and the final report.
The system includes questions related to the number of images; the appropriateness of images in relation to the protocol established; focus adjustment; depth; gain; and appropriateness of the measurements for B-mode examinations. For Doppler examinations, the system includes questions related to the appropriateness of color images, the spectral analysis, and correction of the insonation angle. To assess the quality of the report, the system includes questions related to the consistency between the images obtained and the contents of the report. An overall numerical score was assigned by averaging the scores for image quality and for the contents of the report. Two independent examiners, each blinded to the evaluation of the other, assessed 30 different types of ultrasound examinations.
There was statistically significant agreement between the two examiners for 8 of the 10 questions related to image quality. For the questions related to the quality of the reports, the interexaminer agreement was almost perfect.
The proposed quantitative system for assessing the quality of ultrasound examinations is a reproducible tool that can be used in audits and accreditation programs.
In this article, the genotype-MR phenotype correlation of the most common or clinically important inherited metabolic diseases (IMD) in the pediatric population is reviewed. A nonsystematic search of ...the PubMed/Medline database of relevant studies about "genotype-phenotype correlation" in IMD was performed. Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.
In this article, an update is presented of the correlation of imaging and genetic findings in congenital malformations of the central nervous system (CMCNS). A nonsystematic search of the ...PubMed/Medline database was performed. The congenital disorders were classified in 3 groups of malformation: ventral induction disorders, cortical malformations, and congenital malformations of the posterior fossa. The highlights of genotype-imaging phenotype correlation of some congenital malformations are provided. It is hoped that developments in genotype-MR phenotype in CMCNS will foster further prognostic and pathogenic breakthroughs for the frequently associated neurologic dysfunction in children affected by these common diseases.
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