Anna Pichiecchio

..Further control studies in a larger cohort are needed to evaluate the specificity of these findings...

..The better outcome of patients with low BMI, if confirmed, may indicate that dietary protocols could be adopted as adjuvant measures to ERT in adult GSDII...

..Beyond improvement in muscle strength and respiratory function, we observed a dramatic increase in body mass index from 12.7 to 16.6 kg/m(2). This may reflect a change from a catabolic state to a more balanced metabolic state during ERT...

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..With the limits of the small sample size in the patient group, these data show that, despite the absence of macroscopic changes on conventional MRI, volumetric and metabolic abnormalities are present in the basal nuclei of BHC patients...

..In our opinion, our case, and probably 2 previously reported Japanese siblings with a picture very similar to that of our patient, could represent a new, progressive leukoencephalomyelopathy...

..The three techniques detected a similar number of abnormalities, but these abnormalities were not correlated. This suggests that these different techniques should be regarded as complementary in evaluating saccular function...

..Recently proposed theories underline, even in the event of CSF-flow obstructions, a major role for the accumulation and final coalescence of interstitial spinal fluid, rather than CSF penetration through the spinal cord...

..Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific...

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..We describe a 19-month-old patient with agenesis of the corpus callosum, who developed enlargement of the cerebellum without clinical signs of cerebellar impairment, a picture that has not been previously described...

..This postural abnormality deserves attention and proper early treatment to prevent comorbidities and pain...

..Unsolved issues regard the usefulness of IVIg in less selected groups, and the spectrum of their clinical effects...

..001). Our MR study proved to be accurate and easy to apply, although it was time-consuming. We recommend it in monitoring the progression of the disease and planning DMD patients' diet...

..EEG assessment is recommended if CBS develops in a patient with unexplained worsening of existing neurological signs...

..Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis. Past reports suggested that brain white matter could be involved in CAH...

..The findings support the hypothesis that the disease could be related to a neural crest migration disorder, from which both fronto-nasal mass and cranial vessels take origin...

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