Aicardi-Goutieres Syndrome: Neuroradiologic Findings and Follow-Up.

Background and purpose: To date, few studies have focused specifically on imaging findings in Aicardi-Goutières syndrome (AGS). We set out to evaluate retrospectively neuroradiologic data from a large sample of patients with AGS, focusing on the pattern of white matter abnormalities and the temporal evolution of the cerebral involvement to establish the radiologic natural history of the disease. Materials and methods: Thirty-six patients, 18 girls and 18 boys, were included. All had a clinical diagnosis of AGS, genetically confirmed in 31 of them. For every subject, we reviewed at least 1 CT and 1 MR imaging study; 19 (52.7%) had multiple examinations. In all, we reviewed 109 examinations. Clinical-neuroradiologic comparisons were analyzed by using the chi(2) test. Results: Calcifications were found in all subjects, mainly in the basal ganglia, lobar white matter, and dentate nuclei. Abnormal white matter was present in all the subjects, showing 2 patterns of distribution: diffuse in 18 (50%) and an anteroposterior gradient in 18 (50%). Cystic areas were observed in the temporal and/or frontal lobes in 12/36 patients (33.3%). A correlation was found between early age at onset and severity of the leukoencephalopathy in the frontal (P = .024) and temporal (P = .034) regions. A significant degree of cerebral atrophy was found in 31/36 subjects (86.1%). The neuroradiologic presentation remained substantially stable with time. Conclusions: The different neuroradiologic presentations of AGS are here outlined for the first time in a large sample of patients. These findings may facilitate more precise and earlier diagnosis of this rare but probably underdiagnosed syndrome

MR brain investigation in thirty-five children with Leber's congenital amaurosis

There are few literature reports of MR study in children with Leber's congenital amaurosis, a severe early onset autosomal recessive retinal dystrophy. We describe the clinical and neuroradiological findings in 35 patients. Of these, 22 had a normal brain MR scan, four showed mild dilatation of the cortical sulci, two had mild optic-chiasmatic thinning, three showed aspecific white matter changes not involving the primary visual pathway and four had ``molar tooth'' mesencephalic malformation. Our series confirms literature findings of normal signal and morphology of the primary optic pathway. Posterior cranial fossa abnormalities, defined as rhombencephaloschisis, was associated with a clinical picture different from that of the other patients. This abnormality is encountered in different malformations associating cerebellar, ocular and renal abnormalities. MR brain study in children with Leber's congenital amaurosis is recommended not only to assess the visual pathways, but also to analyse the posterior cranial fossa and cerebellum

Long-term follow-up of an adolescent who had bilateral striatal necrosis secondary to Mycoplasma pneumoniae infection

We describe the long-term follow-up of a patient with bilateral striatal necrosis associated with Mycoplasma pneumoniae infection occurred in adolescence. In the literature there are no longitudinal studies of such a rare condition. Our patient, 4 years after the onset of an acute and reversible akinetic-rigid syndrome, showed a severe obsessive-compulsive disorder, cognitive decline, and a neuropsychological profile characterized by signs of deficient executive functioning. The clinical picture that emerged in our patient is suggestive of a frontosubcortical dementia which might be considered a major long-term sequela of the bilateral selective striatal necrosis and consequent dysfunction of frontostriatal connections

Cerebral cavernous angiomas: an atypical case in infancy.

Cerebral cavernous angiomas (CCA) are rare, reportedly accounting for only 1% of all intracranial vascular lesions and 15% of all cerebral vascular malformations. Forms are sporadic or familial, and the mode of inheritance is probably autosomal dominant. We report an unusual case of an infant born at 37 weeks of gestational age following a normal pregnancy. Her birth-weight was 1560 g. The family history was negative. At 10 months of age, the child presented with the sudden onset of muscular hypotonia, motility and strength deficits, and absence of osteotendinous reflexes in the right arm. The psychomotor development of the child was normal. MRI revealed the presence of a cavernous angioma in the paramedian pontine region. The child's monoparesis quickly disappeared. This case is interesting because of the age at onset and the way in which the clinical manifestations developed

Quantitative MR evaluation of body composition in patients with muscular Duchenne dystrophy

The aim of this study was to propose a quantitative MR protocol with very short acquisition time and good reliability in volume construction, for the evaluation of body composition in patients affected by Duchenne muscular dystrophy (DMD). This MR protocol was compared with common anthropometric evaluations of the same patients. Nine boys affected by DMD, ranging in age from 6 to 12 years, were selected to undergo MR examination. Transversal T1-weighted spin-echo sequences (0.5T; TR 300 ms, TE 10 ms, slice thickness 10 mm, slice gap 1 mm) were used for all acquisitions, each consisting of 8 slices and lasting just 54 s. Whole-body examination needed an average of nine acquisitions. Afterwards, images were downloaded to an independent workstation and, through their electronic segmentation with a reference filter, total volume and adipose tissue volumes were calculated manually. This process took up to 2 h for each patient. The MR data were compared with anthropometric evaluations. Affected children have a marked increase in adipose tissue and a decrease in lean tissue compared with reference healthy controls. Mean fat mass calculated by MR is significantly higher than mean fat mass obtained using anthropometric measurements (p<0.001). 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