Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis.

OBJECTIVE: This study was aimed to investigate the prenatal findings in Aicardi syndrome (AIC) by intrauterine magnetic resonance imaging (iuMRI) suggesting possible diagnostic criteria and differential diagnosis. METHODS: The iuMRI features of nine AIC confirmed cases were described and then compared with those of postnatal MRI. Furthermore, all iuMRI cases with both corpus callosum (CC) agenesis-dysgenesis and cortical malformation (AIC mimickers) were retrospectively reviewed and compared with iuMRI AIC cases, in order to identify possible neuroradiological predictors of AIC syndrome. For this purpose, Chi-square statistic and binary logistic regression analysis were performed. RESULTS: In all AIC cases, iuMRI was able to detect CC agenesis-dysgenesis and cortical development anomalies. Postnatal MRI revealed some additional findings mainly including further cystic lesions and in two cases small coloboma. A statistically significant difference between AIC and AIC mimicker were found regarding sex, nodular heterotopias, posterior fossa abnormalities, coloboma, and cortical gyration abnormalities. The most predictive variables in the logistic regression model were cortical gyration abnormalities, coloboma, and sex. CONCLUSION: The iuMRI findings may suggest prenatal diagnosis of AIC syndrome with significant impact on parental counseling. Among possible differential diagnoses, tubulinopathies emerged.

Gross motor development and reach on sound as critical tools for the development of the blind child.

The aim of the study was to assess early neuromotor development in 20 congenitally blind or severely visually impaired children, nine without (B) and 11 with associated handicaps (B + H), in order to develop a strategy for early intervention in these subjects. The mean age at first observation was 11.4 months (range: 4-30 months). The mean follow-up duration was 16.9 months (range: 3-36 months). Assessment included developmental history, neurological examination, video-recording of spontaneous activity and administration of the Reynell-Zinkin Scales and neuroradiological and neurophysiological investigations. All B children walked independently (mean age 19.8 months) and 55.5% crawled (mean age 15 months); the B + H subjects displayed absence of almost all neuromotor functions, except one who walked at 20 months. All the B and just one (9%) of the B + H children developed satisfactory fine motor abilities. 'Reach on sound' at distance was achieved by all the B children by the age of 14.2 months while in the B + H group it was achieved by only two subjects at a median age of 19.5 months. We conclude that it is possible to describe the profile of neuromotor development in B and B + H children; strategies to help postural-motor development and 'reach on sound' appear to be fundamental in early intervention in these subjects.