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.

Subcortical dementia associated with striking enlargement of the Virchow-Robin spaces and transneural degeneration of the left mammillo-thalamic tract.

We report a case of subcortical dementia in a 68-year-old woman. MR examination of the patient's brain revealed two types of alterations as a possible cause of the dementia, both anomalous in respect of their entity and incidence: the first was a striking enlargement of the Virchow-Robin spaces, and the second an anterograde transneural degeneration of the left mammillo-thalamic tract and mammillary body secondary to a lacunar infarction of the ipsilateral anterior thalamus.

Cerebral visual impairment in periventricular leukomalacia.

Infants with cerebral palsy (CP) frequently present cerebral visual impairment (CVI) often caused by damage to retrochiasmatic pathways. This is particularly true of subjects with damage to the periventricular white matter. Thirty-eight preterm infants with periventricular leukomalacia (PVL) diagnosed by MRI were examined to correlate binocular visual acuity with neuroradiological findings. Binocular visual acuity was evaluated using Teller Acuity Cards and a complete ophthalmological examination was also performed. Three infants with ROP III were excluded from the sample. The age of observation ranged from 20 months to 5 and a half years (mean 42 months). The possible involvement of the optic radiations and/or of the calcarine cortex was detected by brain MRI. Twenty-three infants (66%) presented visual impairment. Of these, 9 (26%) were totally or nearly totally blind and 14 (40%) were low vision children. The other 12 (34%) had normal (2) or near normal (9) vision. MRI findings correlated with visual acuity; a relationship was detected between the degree of visual acuity and the reduction of the peritrigonal white matter, and also between the degree of visual acuity and the extent of calcarine atrophy. This report clearly establishes a relationship between visual impairment and specific MRI findings in children with PVL. Teller Acuity Cards and MRI are useful for detecting potential visual impairment and for improving both the clinical diagnosis of these disorders and the therapeutic approach to these subjects.

Aneurysm occurring within a meningioma: case report.

Aneurysms can be expected to be found in approximately 0.5% of patients with brain tumours; nevertheless, the real incidence is difficult to assess because angiography is now seldom performed for brain tumours. In the literature, 42 cases of meningioma associated with aneurysms are reported, but in none was the aneurysm intratumoural. We describe a case of intracranial meningioma with an intratumoural aneurysm in a 48-year-old woman.

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.

Transsynaptic degeneration of lateral geniculate bodies in blind children: in vivo MR demonstration.

PURPOSE: To investigate signal alterations in the thalamic lateral geniculate bodies of blind patients compatible with transsynaptic degeneration of these nuclei caused by pregeniculate or postgeniculate interruption of the visual pathway. METHODS: Six patients were selected from a group of blind children in our care. Four had cerebral palsy caused by periventricular leukomalacia, one had infantile neuroaxonal dystrophy, and one had Chiari I malformation and hydrocephalus, which was worsened by bilateral ischemic lesions of the occipital lobes. MR examinations (obtained at 0.5 T) were reviewed retrospectively by two neuroradiologists, with particular attention to the visual pathway. RESULTS: Symmetric, focal areas of T2 prolongation were found at the precise site of the lateral geniculate bodies. CONCLUSION: Anterograde (pregeniculate) and retrograde (postgeniculate) transsynaptic degeneration of the second neurons of the visual pathway produce alterations in MR signal.

Review of the Literature. Super-selective Chemotherapy with High Dose Carboplatin for Advanced Cervicofacial Tumours. Treatment Validation and Preliminary Findings in 22 Patients.

SUMMARY: Traditional treatment based on surgery combined with radiotherapy for stage III and IV cervicofacial squamous cell carcinomas has shown disappointing results to date. In the past, systemic chemotherapy was only used as a palliative treatment. Intra-arterial chemotherapy offers theoretical advantages mainly linked to increased drug tolerability. This new technique seems particularly suited to the management of squamous cell carcinomas in view of the local and regional spread of these tumours and the improved access by means of angiographic adminstration through the branches of the external carotid artery. We describe our experience of intra-arterial chemotherapy in 22 patients with biopsy-proven squamous cell carcinoma at the onset of disease. High dose Carboplatin (300-350 mg/m(2)) was super- selectively injected by rapid infusion repeated in three sittings at two week intervals. The optimum point of drug infusion was determined in each patient on the basis of angiographic information obtained in the diagnostic work-up. The dual objective was to get as near as possible to the primary tumour and to infuse the drug into any satellite lymph node metastases. The narrow calibre and tortuous course of the branches of the external carotid artery increase the likelihood of vasospasm: 5F hydrophilic catheters proved very useful to minimize technical complications in all angiographic procedures performed (64). Treatment was always well tolerated with mild local toxicity (grade 1-3, WHO), mainly involving the mucosae (stomatitis) and skin (dermatitis and alopecia) and minimum myelosuppression (grade 1-2, WHO). A positive response (complete or partial tumour remission) was observed in 94% of patients with primary tumours and in 50% of cases with cervical lymph node metastases. The reduction in tumour size often precluded the need for surgery and the cycles of chemotherapy were followed only by target radiotherapy for the tumour residue.

[Dynamic study of the distal radioulnar joint with computerized tomography]. / Studio dinamico dell'articolazione radio-ulnare distale con Tomografia Computerizzata.

The authors describe a CT technique which allows the dynamic study of the inferior radioulnar joint. The examination consists of 4 CT slices, three of them acquired at the same level-i.e., the radioulnar joint- in the prone, intermediate and supine positions, respectively. The last slice is acquired, with the patient in the prone position, at the base of the styloid process where the triangular fibrocartilage is demonstrated. The distal radioulnar ligaments are not directly visible. Nineteen patients complaining of painfully impaired pronation and supination because of previous trauma (11 Colles fractures, 7 distortions and 1 Galeazzi lesion) were examined with this technique. In all patients, both wrists were studied to obtain normal parameters. The radioulnar joint was evaluated superimposing a draft on the dynamic images, which demonstrated that, in healthy limbs, during movement the ulnar epiphysis is always contained between two parallel lines drawn on the volar and dorsal surfaces of the radial epiphysis, respectively. It was also confirmed that supination is possible up to 110-135 degrees from the support plane. CT demonstrated different causes of impaired movements in the affected joints: in 12 cases some fibrous density tissue was seen at the ulnar epiphysis on the volar aspect and considered to be the evolution of a traumatic hematoma; 6 patients presented dorsal subluxation of the ulna during movement; finally, volar subluxation was detected only in one case. In 6 patients the triangular fibrocartilage was detached; in 1 patient an intraarticular fluid collection was demonstrated. In 3 patients CT detected no abnormalities. The fibrous tissue is responsible for impaired movements and causes the detached triangular fibrocartilage to shrink. The authors believe that this simple CT technique can yield useful pieces of information for accurate surgical planning.

Cerebral visual impairment in periventricular leukomalacia: MR correlation.

PURPOSE: To evaluate the involvement of central visual pathways in cases of periventricular leukomalacia, and to correlate the neuroradiologic findings with the degree of visual acuity. METHODS: The MR brain examinations of 27 preterm children affected by cerebral palsy resulting from periventricular leukomalacia and without significant ophthalmologic lesions were reviewed retrospectively to search for possible involvement of the optic radiations and/or of the calcarine cortex. The data were compared with the degree of visual acuity estimated by means of the Teller Acuity Cards test. RESULTS: Seventeen (63%) of the 27 patients had cerebral visual impairment, which correlated strongly with MR lesions. Quantitative reduction and signal hyperintensity of the peritrigonal white matter and atrophy of the calcarine cortex were present in the more severe cases. In two blind patients, an altered MR signal was detected in the lateral geniculate bodies. CONCLUSION: This study clearly establishes a relationship between specific MR findings and visual impairment in children with periventricular leukomalacia. The finding of hyperintensity in the lateral geniculate bodies was interpreted as an axonal reaction. MR imaging is useful for detecting potential visual impairment and for improving clinical diagnosis.

Disseminated encephalitis following streptococcal infection.

Various neurological disorders have been related to Streptococcus pyogenes infection. Only recently, and for the first time, it has been suggested that acute disseminated encephalitis may also complicate a streptococcal infection. The case reported in this paper seems to confirm this hypothesis.

Ataxia-telangiectasia: MR and CT findings.

OBJECTIVE: The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections. Patients present varying states of immunodeficiency and a high incidence of neoplasms. Chromosomal instability with a rearrangement of chromosomes 7 and 14 is always present. MATERIALS AND METHODS: We describe the neuroradiological findings (10 MR and 2 CT) in 12 subjects: 11 with A-T and 1 heterozygote parent. RESULTS: The images revealed a diffuse cerebellar atrophy, with marked involvement of the vermis and unusual decreased thickness of the superior cortex of the cerebellar hemispheres. Hypoplasia of the inferior vermis and a large cisterna magna were also frequent signs. CONCLUSION: Magnetic resonance is the technique of choice in this type of disorder since it permits better visualization of the posterior fossa structures.