Biomedical subjects

F Triulzi

Publications and source records attributed to F Triulzi.

At least 19 recordsLinked to original sources

PubMed2006

Spinal cord and vertebral stroke: a paediatric case.

Spinal cord ischaemia is a rare entity and very few cases of simultaneous spinal cord and vertebral body infarction have been reported: all of them in adult age. We observed a 15-year-old girl with abrupt onset of myelopathy and pain at the vertebral column studied by means of serial magnetic resonance imaging (MRI), and in whom bone infarction was a confirmatory sign of the vascular origin of the spinal lesion. This is to the best of our knowledge the first paediatric case described in the literature.

Adolescent↗

PubMed2005

Thrombophilia and fetal germinal matrix-intraventricular hemorrhage: does it matter?

Germinal matrix-intraventricular hemorrhage (GMH-IVH) in the fetus is very rare and the role of thrombophilia in its pathogenesis is unclear. We report on the prenatal diagnosis by magnetic resonance imaging of GMH-IVH in a 24-week fetus. The newborn presented posthemorrhagic ventriculomegaly and was found to be heterozygous for two thrombophilic patterns, factor V Leiden and methylenetetrahydrofolate reductase mutation. The combination of this hypercoagulable state and prenatal GMH-IVH is discussed together with the opportunity of testing these infants for thrombophilia.

Adult↗

PubMed2004

Neuroradiology of multiple sclerosis in children.

Neuroimaging features of multiple sclerosis in children can differ from the usual adult pattern. Frequently, lesions can be more larger and pseudo-tumoral with a variable evolution. The most critical differential diagnosis in childhood is with acute disseminated encephalomyelitis that is a relatively frequent acquired inflammatory disease of the white matter with a polymorphous appearance. Some differences between multiple sclerosis and acute disseminated encephalomyelitis in children such as distribution of white matter lesions and frequency of gray matter involvement should be pointed out. Neveretheless only follow-up examination can make the definitive diagnosis in the majority of the cases.

Brain↗

PubMed2003

Retrospective diagnosis of congenital cytomegalovirus infection and cortical maldevelopment.

Congenital cytomegalovirus (CMV) infection can cause malformations of cortical development (MCD). It is difficult to establish CMV as a cause of MCD several months postpartum. This can now be done by detection of CMV DNA in dried blood spots (DBS test) on Guthrie cards. The authors used DBS tests to assess 10 patients with MCD of unknown cause. Four of the 10 patients were positive for CMV.

Cerebral Cortex↗

PubMed2001

Neonatal MR imaging.

Recently, MR imaging has become the technique of choice in evaluating neonatal central nervous system diseases. It is the only imaging technique that can discriminate myelinated from neonatal unmyelinated white matter; it offers the highest sensitivity in detecting acute anoxic injury of the neonatal brain; and with proper coils and sequences, it can exquisitely depict neonatal brain anatomy and locate pathology, offering a robust and reliable tool in the prognostic assessment of neonatal central nervous system disease.

Brain↗

PubMed2001

[Neuroimaging techniques for the diagnosis of brain damage in newborns].

Recently, magnetic resonance (MR) has become the technique of choice in evaluating neonatal central nervous system (CNS) diseases. It is the only imaging technique that can discriminate myelinated from neonatal unmyelinated white matter; it offers the highest sensitivity in detecting acute anoxic injury of neonatal brain, and, with proper coils and sequences, it can exquisitely depict neonatal brain anatomy and locate pathology. With new generation high-field MR imaging units it is now possible to obtain images of molecular diffusion. Preliminary reports suggest that diffusion imaging may be useful in early detection of perinatal brain ischemia and it is likely to become crucial in the effective and safe use of neuroprotective strategies.

Asphyxia Neonatorum↗

PubMed2000

Age-dependent neurologic manifestations of HIV infection in childhood.

Although the neurologic complications of HIV- 1 infection during the first two years of life have been defined, the neurologic features in older children are not so well described. The present report is focused on the age-dependent neurologic presentation of HIV-1 infection. Sixty-two vertically HIV-1 infected children underwent detailed serial evaluations: neurologic assessment, neuropsychological tests, neuroimaging studies, and cerebrospinal fluid analysis. Neurologic involvement was found in 30 patients (48.3%). This population was divided into two groups, exhibiting progressive (83.3%) or nonprogressive (16.6%) neurologic signs and symptoms. In the first group of patients, progressive encephalopathy was distinguished from spastic paraparesis, possibly due to spinal cord involvement. The second group, represented by long-term survivors, requires clinical monitoring due to the possible prognostic value of acquired but presently nonprogressive signs of brain involvement. In contrast with the stereotyped features of the early form of progressive encephalopathy, the late form showed a polymorphic picture, with age-dependent neurologic manifestations. Multifocal white matter alterations and cerebral calcifications (sometimes with delayed onset and progression) were the prominent imaging findings. A correlation between cerebrospinal fluid HIV RNA levels, suggestive of viral replication within the central nervous system, and progressive neurological disease were also found.

AIDS Dementia Complex↗

PubMed2000

Unilateral periventricular nodular heterotopia associated with diffuse areas of cerebral functional abnormalities.

A 17-year-old boy with polymorphic simple and complex partial seizures is described. Magnetic resonance imaging revealed a unilateral periventricular nodular heterotopia near the occipital ventricular right horn. Interictal and ictal electroencephalographic recordings showed bilateral specific epileptiform anomalies in the occipital region and asynchronous slow waves in frontal areas. Single photon emission computed tomography documented a reduction in regional cerebral blood flow in an area of the left occipital cortex and a symmetric increase in tracer uptake in the frontal lobes. The neuropsychologic assessment revealed a dysfunction of the frontal associative areas. Data collected led the authors to suspect a more diffuse cortical dysfunction than the nodular heterotopia revealed on magnetic resonance imaging.

Adolescent↗

PubMed1999

Bilateral perisylvian polymicrogyria in three generations.

A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3 consecutive generations. Typical anatomic and clinical findings of the syndrome, with a mild phenotype, were present in the 5 affected women from all 3 generations. More severe impairment was observed in the only affected male individual, a boy, in the third generation. Analysis of the pedigree and severity of the phenotype in the affected boy are consistent with transmission of an X-linked dominant trait, although other patterns of inheritance cannot be ruled out with certainty.

Adult↗

PubMed1999

Unusual presentation and course of HIV-1 progressive encephalopathy.

The present report concerns a vertically human immunodeficiency virus type 1 (HIV-1)-infected 7-year-old child, in whom a neurodegenerative disease occurred after an acute neurologic disorder that was in all likelihood symptomatic of HIV-1 encephalitis. At the steady state the neurologic disease fulfilled the accepted criteria of HIV-related progressive encephalopathy of childhood and was characterized by involvement of multiple neural systems and subcortical dementia. The neurologic disease displayed, however, atypical presentation and course, and its acute focal onset led the authors to postulate an acute and direct involvement of the brain in HIV-1 infection. The correlation between the cliniconeuroradiologic data and levels of HIV-RNA in the cerebrospinal fluid and the response to different antiretroviral treatments are also discussed.

AIDS Dementia Complex↗

PubMed1999

Spontaneous improvement of optic pathway lesions in children with neurofibromatosis type 1.

Two cases of spontaneous improvement of optic pathway lesions in neurofibromatosis type 1 are reported. At time of diagnosis the children were aged 21 and 32 months respectively; they have been followed by both MRI and clinical evaluation for 5 and 4 years. MRI findings of the first 19 months of follow-up for Case 1 have been described by us before. On MRI serial evaluation, Case 1 showed an almost complete normalization of the size of lesions and a resolution of enhancement, whereas Case 2 showed a slight decrease in the size of lesions and a resolution of enhancement. From the clinical point of view Case 1 showed a normalization of his clinical signs, whereas in Case 2, a visual improvement was only slight, if at all present. In Case 1, the clinical improvement seemed to follow the spontaneous regression of the lesions detected by MRI.

Child, Preschool↗

PubMed1999

Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome).

Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain magnetic resonance imaging (MRI). Our results suggest that in MPS III patients MRI findings, including atrophy and abnormal or delayed myelination, may precede the onset of overt neurological symptoms. The increasing neurological morbidity is accompanied by different degrees of progressive atrophic changes, mainly affecting the cerebral cortex and the corpus callosum. However, it appears that, across subjects, the rate of MRI changes is unrelated to the severity of the clinical phenotype. On this basis it could be argued that in MPS III the worsening of the neurological symptoms might not necessarily reflect only the progressive cerebral abnormalities detectable by MRI.

Atrophy↗

PubMed1999

Encephalocraniocutaneous lipomatosis: complete neuroradiologic evaluation and follow-up of two cases.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by unilateral scalp, facial, and ocular lesions and ipsilateral cerebral malformations. To define the neuroimaging features of this disorder we studied two patients affected by ECCL and compared our data with those reported in the literature. Sonographic, CT, and MR imaging examinations showed quite specific CNS findings that are highly suggestive of the diagnosis of ECCL. To our knowledge this is the first report of a complete neuroradiologic evaluation and follow-up of this disorder.

Brain↗

PubMed1998

Epstein-Barr virus DNA in the cerebrospinal fluid of an HIV patient with primary cerebral lymphoma.

UNLABELLED: The case of a 7-month-old boy with vertically acquired immunodeficiency syndrome and multifocal primary cerebral lymphoma is reported. Neither neurological nor neuroradiological findings contributed towards the appropriate diagnosis. Positive Epstein-Barr virus DNA, assessed by means of polymerase chain reaction in cerebrospinal fluid, strongly suggested a diagnosis of primary cerebral lymphoma, which was subsequently confirmed by autopsy. CONCLUSIONS: The detection of Epstein-Barr virus DNA using the polymerase chain reaction in cerebrospinal fluid is useful for the diagnosis of primary cerebral lymphoma.

Brain↗

PubMed1998

Progressive brain failure after diffuse hypoxic ischemic brain injury: a serial MR and proton MR spectroscopic study.

The findings at sequential MR imaging and proton MR spectroscopy of a patient with profound hypoxic-ischemic brain injury are reported. The pattern of structural and biochemical changes observed closely reflected the known evolution of postasphyxic brain degeneration. Particularly noteworthy were the sharp decrease of cortical N-acetylaspartate in the acute phase, suggesting the severity of the neuronal insult, and the subsequent progressive increase of choline, paralleling the delayed degeneration of white matter.

Adult↗

PubMed1998

Differential diagnosis of multiple sclerosis: contribution of magnetic resonance techniques.

It is widely accepted that magnetic resonance imaging (MRI) findings are not totally specific for the diagnosis of multiple sclerosis. White matter lesions that mimic those of multiple sclerosis may be detected in both normal volunteers and patients harbouring different diseases. Virtually all the characteristic features of multiple sclerosis are sometimes encountered in other conditions affecting predominantly the white matter. Different conditions such as vasculitis, subcortical atherosclerotic leukoencephalopathy, Lyme disease, or acute disseminated encephalomyelitis can be virtually indistinguishable from multiple sclerosis on conventional MR images. Also the FLAIR technique adds little to the differential diagnosis. The calculation of magnetisation transfer ratio (MT ratio) may be useful to better characterise some entities, such as vasculitis, from multiple sclerosis.

Brain↗

PubMed1997

Brain magnetic resonance imaging in congenital hypothyroid infants at diagnosis.

The aim of our study was to investigate the central nervous system (CNS) morphology and myelination with magnetic resonance imaging (MRI) in congenital hypothyroid (CH) infants detected by neonatal screening before replacement therapy. We studied 11 CH infants, 9 girls and 2 boys, mean age 22 days, 3 with aplasia, 5 with ectopia, 2 with hypoplasia of the thyroid gland, 1 with unknown diagnosis. As normal controls 22 term newborns (38 to 41 weeks of gestational age) were studied. MRI studies were performed with a 1.5-T magnet, extremity coil, T1-weighted and heavily T2-sequences axial sections were obtained. No sedation was needed for the MRI studies. MRI brain examination was normal in all patients compared with controls. In particular, no differences in the myelination patterns of the brain were observed between normal subjects and patients with hypothyroidism. Our study shows no morphological brain abnormalities in CH infants detected by neonatal screening before replacement therapy. Perinatal hypothyroidism seems to have no effect on CNS structures.

Brain↗

PubMed1996

Proton magnetic resonance spectroscopy and intracranial tumours: clinical perspectives.

Proton magnetic resonance spectroscopy (1H-MRS) was applied to characterize intracranial tumours of different hystological types. Seventy patients with intracranial neoplasms were studied before receiving surgery, radiotherapy or chemotherapy. All tumours were characterized by reduced or absent N-acetylasparate and increased signal from choline-containing compounds. Distinctive patterns were observed only for primitive brain neoplasms; high-grade gliomas were differentiated from low-grade ones by higher levels of choline-containing compounds. The metabolic aspects of metastatic lesions were similar to high-grade gliomas. These results, together with the limitations of 1H-MRS and future applications are reviewed.

Adenoma↗