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Andrea Righini

Publications and source records attributed to Andrea Righini.

17 recordsLinked to original sources
PubMed2006

Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration.

We report on a patient with late-onset, pantothenate kinase-associated neurodegeneration (PKAN) who revealed two new heterozygous mutations at gene testing and showed asymmetric moderately reduced striatal dopamine transporter binding with single photon emission computed tomography, possibly due to prolonged neuroleptic treatment. These findings expand the genetic and imaging spectrum of this rare disorder.

Age Factors↗
PubMed2005

Successful medical treatment of multiple brain abscesses due to Nocardia farcinica in a paediatric renal transplant recipient.

Brain abscesses caused by Nocardia are rare, but it is very important to detect and treat them early because the associated mortality is 3 times higher than that associated with other bacterial brain abscesses. This infection is prevalent among adults on long-term immunosuppressive therapy; we report the case of a male kidney transplant recipient aged 12.7 years who developed early multiple Nocardia-induced brain abscesses that were successfully treated with linezolid, a novel antibiotic therapy.

Acetamides↗
PubMed2005

Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation.

OBJECTIVE: To describe an unreported brain malformation with in utero onset. METHODS: A 21-weeks-of-gestational-age fetus underwent prenatal MR imaging because of macrocephaly detected by ultrasound. Prenatal MR imaging revealed a complex brain malformation. At 22 weeks of GA, pregnancy was terminated; an MR autopsy study was also performed. RESULTS: MR imaging revealed frontal bilateral megalencephaly and malformation of cortical development, suggesting polymicrogyria. These findings do not fit into any of the known megalencephalic syndromes. CONCLUSIONS: To our knowledge, this is a previously unreported malformation. Fetal and autoptic MR examination have been the best tools in understanding this complex brain pathology, allowing a more complete genetic counseling.

Adult↗
PubMed2005

MRI of fetal and neonatal cerebellar development.

In the last few years magnetic resonance imaging (MRI) has expanded its diagnostic capability in the evaluation of fetal brain. Starting from the 18th to 20th gestational weeks, MRI can reliably depict fetal brain anatomy and locate pathology, offering a robust and reliable tool for the assessment of disorders of the fetal central nervous system. In this review quantitative and qualitative in vivo MRI data on fetal cerebellar development are presented. Our normative reference data have been obtained from a database of 580 MR fetal imaging studies. Normal cases were selected within normal MRI fetal brain studies, and all selected cases had a normal clinical evaluation and a normal cranial ultrasound or MR image after birth. Fetal cerebellar development is gradual, steady, and grossly comparable to the development of the supratentorial brain. Archicerebellar (flocculonodular lobe) and paleocerebellar (vermis) structures develop before the neocerebellum (cerebellar hemispheres) that develops more slowly and largely after birth.

Cerebellum↗
PubMed2004

Prenatal ultrasound detection of bilateral focal polymicrogyria.

OBJECTIVES: Prenatal diagnosis by ultrasound of fetal polymicrogyria has been reported only once. METHODS: We describe an additional case of polymicrogyria in a fetus from a monozygotic twin pair, probably the consequence of twin-to-twin transfusion syndrome. RESULTS: On ultrasound, there were bilateral cortical hyperechogenic spots, and prenatal magnetic resonance imaging demonstrated the typical features of bilateral focal polymicrogyria. CONCLUSION: Polymicrogyria can be considered in the differential diagnosis of hyperechogenic brain lesions on fetal ultrasound. We also confirm the risk of brain damage in monochorionic twins pregnancies and the likely hypoxic-ischemic etiology of polymicrogyria.

Adult↗
PubMed2004

Early prenatal MR imaging diagnosis of polymicrogyria.

The case of a 24-week-old fetus that showed features suggestive of focal cortical developmental anomaly at prenatal MR imaging is presented. The anomaly was confirmed to be polymicrogyria by 34-week prenatal and the 3-day postnatal MR imaging studies. The report demonstrates that the development of polymicrogyria can be assessed throughout different stages by prenatal MR imaging. In the case reported, the additional presence of periventricular heterotopia strongly suggests that a neuronal migration alteration coexisted with a postmigrational disorder.

Adolescent↗
PubMed2003

Water apparent diffusion coefficient and T2 changes in the acute stage of maple syrup urine disease: evidence of intramyelinic and vasogenic-interstitial edema.

BACKGROUND: The acute phase of the neonatal classical form of maple syrup urine disease (MSUD) is usually associated with generalized brain edema. METHODS AND RESULTS: The authors present the case of a newborn infant in the acute stage of the classical form of MSUD in whom a remarkable decrease in the water apparent diffusion coefficient (ADC) in advanced myelinating white matter areas was associated with an increase in the T2 signal. This diffusion magnetic resonance imaging (MRI) pattern appears to be compatible with a rare kind of cytotoxic edema, the so-called intramyelinic edema. At the same time, an increase in the ADC was seen in unmyelinated areas together with an increase in the T2 signal, a sign of a coexistent vasogenic-interstitial edema. CONCLUSIONS: ADC measurements in MSUD provide more specific information than conventional MRI about the pathophysiology of white matter changes.

Acute Disease↗
PubMed2003

Apparent diffusion coefficient determination in normal fetal brain: a prenatal MR imaging study.

BACKGROUND AND PURPOSE: Diffusion-weighted MR imaging studies of normal brain development have focused on premature babies who were free of focal lesions on conventional MR images. The condition of prematurity, however, is dissimilar to intrauterine life. We sought to establish normal values of fetal brain apparent diffusion coefficient (ADC) to highlight its abnormal changes in pathologic conditions and to obtain information about normal brain development. METHODS: We measured the ADC, in utero, by using an echo-planar three-axes diffusion-sensitized sequence (b factor, 0 and 600 s/mm(2)), in frontal and occipital white matter and basal ganglia gray matter of 15 fetuses. Their gestational ages ranged from 22 to 35 weeks, and the postnatal MR images or sonograms revealed normal brain. RESULTS: Mean ADC value was 1.96 +/- 0.1 micro m(2)/ms (SD) in frontal white matter, 1.95 +/- 0.1 micro m(2)/ms in occipital white matter, and 1.56 +/- 0.1 micro m(2)/ms in basal ganglia. A significant negative correlation between ADC and gestational age was found for basal ganglia, whereas only a trend was present for frontal white matter. CONCLUSION: Although moderately higher, the ADC determinations we obtained are consistent with those reported in the literature in postnatal studies performed in premature babies.

Adult↗
PubMed2002

Demonstration of acute ischemic lesions in the fetal brain by diffusion magnetic resonance imaging.

The possibility of detecting acute hypoxic-ischemic brain lesions by prenatal magnetic resonance imaging or ultrasound is low. We present a case of a fetus with a vein of Galen arteriovenous malformation in whom prenatal diffusion-weighted magnetic resonance imaging at 33 weeks of gestation clearly detected cerebral acute ischemic lesions, associated with remarkable decrease of the average apparent diffusion coefficient, whereas T2-weighted imaging was still not informative.

Acute Disease↗
PubMedDate not supplied

Thin section MR study of the basal ganglia in the differential diagnosis between striatonigral degeneration and Parkinson disease.

PURPOSE: Signal abnormalities within the putamen in MRI have been related to tissue degeneration in the striatonigral variant of multiple system atrophy (MSA-P). While previous work demonstrated the high specificity of these MR findings, sensitivity rates were unsatisfactory. We evaluated the specificity and sensitivity of an acquisition protocol using thin section MRI to differentiate MSA-P from Parkinson disease (PD). METHOD: Axial 3-mm-thick conventional T2 and proton density spin echo images at the level of basal ganglia were acquired at 1.5 T in 24 patients with MSA-P and 27 patients with PD. RESULTS: We found an abnormal putaminal T2 hypointensity in 21 of 24 MSA-P patients (87.5% sensitivity) and a proton density hyperintensity in 20 of 24 MSA-P patients (83.3% sensitivity). Three among 27 PD patients had an abnormal putaminal T2 hypointensity (88.8% specificity) and there were no proton density abnormalities (100% specificity). CONCLUSION: Our thin section conventional spin echo protocol showed a substantial increase in MR sensitivity compared with previous reports. We believe that a better depiction of even mild signs of degeneration in the putamen may allow a more widespread use of this technique in the differential diagnosis of parkinsonisms.

Aged↗
PubMedDate not supplied

Prenatal magnetic resonance imaging evaluation of ischemic brain lesions in the survivors of monochorionic twin pregnancies: report of 3 cases.

The death of 1 twin of monochorionic pairs is associated with a significant risk of brain hypoxic-ischemic damage in the survivor. Ultrasound may diagnose cerebral anomalies only a few weeks after the event. We report 3 cases of single survivors of monochorionic-twin pregnancies in which prenatal magnetic resonance imaging detected brain changes earlier and with better definition of the brain abnormalities than ultrasound.

Adult↗
PubMedDate not supplied

Magnetic resonance imaging in prenatal diagnosis of dacryocystocele: report of 3 cases.

The presence of cystic dilation of the lacrimal drainage system (dacryocystocele) in the fetus must be differentiated from less benign paraocular masses. Three cases of dacryocystocele studied during fetal life by ultrasound and magnetic resonance (MR) imaging are reported. The accuracy of prenatal MR imaging facilitated a definite diagnosis depicting the characteristic triad of dacryocystocele: paraocular cystic mass in the medial canthus region, nasolacrimal duct enlargement, and intranasal cyst.

Adult↗
PubMedDate not supplied

MR imaging of the superior profile of the midbrain: differential diagnosis between progressive supranuclear palsy and Parkinson disease.

BACKGROUND AND PURPOSE: Quantitative evaluation of midbrain atrophy may be useful in differentiating progressive supranulear palsy (PSP) from Parkinson disease (PD); however, this finding is not specific of PSP, and quantitative measurements are not always practical. We determined whether an abnormal superior midbrain profile (flat or concave aspect) is a more practical diagnostic parameter for PSP. METHODS: MR imaging studies of 25 patients with PSP and 27 with PD were reviewed by means of five parameters: midbrain superior profile on midsagittal T1-weighted images, midbrain atrophy, tegmental abnormal T2 hyperintensity, abnormal T2 putaminal hypointensity or hyperintensity on axial proton density-weighted images. We also measured the anteroposterior diameter of the midbrain on axial T2-weighted sections at the level of the superior colliculus. RESULTS: The finding of an abnormal superior profile of the midbrain had 68% sensitivity and 88.8% specificity. Midbrain atrophy had 68% sensitivity and 77.7% specificity. Tegmental T2 hyperintensity had 100% specificity but poor sensitivity (28%). Only 14.8% of patients with PD and 24% of those with PSP had abnormal putaminal T2 hypointensity; none had proton-density hyperintensity. With PSP, the average midbrain diameter was smaller than that with PD, but an important overlap was observed. Reader discordance was lower for the midbrain superior profile sign (eight of 52 cases); this was similar for tegmental hyperintensity (nine of 52 cases) and higher for midbrain atrophy (16 of 52 cases). CONCLUSION: An abnormal superior profile of the midbrain facilitates the distinction of PSP from PD and may support the clinical differential diagnosis of parkinsonism.

Aged↗