PRES-like leukoencephalopathy presenting with status epilepticus associated with Brentuximab Vedotin treatment.

Posterior Reversible Encephalopathy Syndrome (PRES) is characterized by acute neurological symptoms with typical imaging features, primarily in the territories of the brain supplied by the posterior circulation, probably due to vasogenic edema. Both clinical and imaging features are generally reversible. We report a 13-year-old girl affected by Nodular Sclerosis Classical Hodgkin Lymphoma stage IIIB into complete remission, with a recurrence and autologous bone-marrow transplantation, who has been treated with an anti-CD30 monoclonal antibody, brentuximab-vedotin. The girl has suddenly presented a convulsive status epilepticus, that needed intubation and sedation. Therefore, an IV therapy with levetiracetam was started. Furthermore, the girl has presented high blood pressure and reduced kidney function. Brain MRI demonstrated a diffuse PRES-like disease, that went into regression after the first week. After another week, the girl presented a new prolonged generalized tonic clonic convulsive episode, that needed intubation and sedation and an association of clobazam and levetiracetam: a new brain MRI showed a recurrence of PRES-like lesions in addition to some signs of leukoencephalopathy with brain lactate accumulation on 1H-MRS, due to cerebral energetic failure. The girl also presented a refractory arterial hypertension. After 45 days of ICU hospitalization the patient has been discharged and followed up with neurological examinations. Brain MRI and brain 1H-MRS, 5 months after patient's discharge, showed incomplete regression of cerebral white matter signal abnormalities with MRS normalization.

Primary intra-diploic meningioma in a child.

BACKGROUND: Primary intra-diploic meningiomas are uncommon in childhood and, at the clinical onset, may be confused with other and more frequent bone tumours because they lack specific clinical and radiological characteristics. Surgery is indicated not only to remove the lesion but also to obtain an accurate histological diagnosis. CASE REPORT: We report the case of a young girl who presented with a recently developed subcutaneous hard mass in the left pterional region. Neuroradiological investigations revealed an intra-osseous lytic mass with a sclerotic reaction. Diagnosis was possible only after the total removal of the tumour and its histological examination.

Influences of dopaminergic treatment on motor cortex in Parkinson disease: a MRI/MRS study.

The objective of this study was to investigate neurochemical and metabolic changes in the motor cortex in a group of de novo Parkinson's disease (PD) patients before and after 6 mo treatment with the dopamine agonist pergolide. Proton magnetic resonance spectroscopy (1H-MRS) has been used to study striatal and cortical metabolism in PD and other parkinsonisms. So far, no studies evaluating possible brain metabolic changes in PD patients before and after dopaminergic therapy have been reported. De novo PD patients (11) and controls (11) underwent clinical evaluation (UPDRS-III motor evaluation) and a first single-voxel 1H-MRS of the motor cortex. 1H-MRS studies were performed using the PROBE-SV System implemented on a 1.5 Tesla Scanner (GE Medical System, Milwaukee, WI). Pergolide was administered up to a dose of 1 mg t.i.d. After 6 mo follow-up, all patients were clinically evaluated and a second single-voxel 1H-MRS was performed. Lower values of Cho/Cr and NAA/Cr ratios were observed in the motor cortex of PD patients compared with controls (P < 0.02 and P < 0.01, respectively). After 6 mo therapy with pergolide (1 mg t.i.d), PD patients showed an improvement in motor performances (P < 0.05) and an increase in Cho/Cr ratios in the motor cortex at the second 1H-MRS evaluation (P < 0.05) was reported. In conclusion, cortical NAA/Cr and Cho/Cr ratios may be impaired in de novo PD. Dopaminergic therapy capable of improving motor function may restore the Cho/Cr ratio in the motor cortex.

Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies.

Brain MR imaging techniques are important ancillary tests in the diagnosis of a suspected mitochondrial encephalopathy since they provide details on brain structural and metabolic abnormalities. This is particularly true in children where non-specific neurologic symptoms are common, biochemical findings can be marginal and genetic defects may be not discovered. MR imaging modalities include conventional, or structural, imaging (MRI) and functional, or ultrastructural, imaging (spectroscopy, MRS; diffusion, DWI-ADC; perfusion, DSCI--ASL). Among them MRI and MRS are the main tools for diagnosis and work up of MD, and this review will focus mainly on them. The MRI findings of MD are very heterogeneous, as they depend on the metabolic brain defects, age of the patient, stage and severity of the disease. No correlation has been found between genetic defects and neuroimaging picture; however, some relationships between MR findings and clinical phenotypes may be identified. Different combinations of MRI signal abnormalities are often encountered but the most common findings may be summarized into three main MR patterns: (i) non-specific; (ii) specific; (iii) leukodystrophic-like. Regarding the functional MR techniques, only proton MRS plays an important role in demonstrating an oxidative metabolism impairment in the brain since it can show the accumulation of lactate, present as a doublet peak at 1.33 ppm. Assessment of lactate should be always performed on brain tissue and on the ventricular cerebral spinal fluid. As for MRI, metabolic MRS abnormalities can be of different types, and two distinct patterns can be recognized: non-specific and specific. The specific metabolic profiles, although not frequent to find, are highly pathognomonic of MD. The un-specific metabolic profiles add value to structural images in allowing to define the lesion load and to monitor the response to therapy trials.

Age dependence of cerebral perfusion assessed by magnetic resonance continuous arterial spin labeling.

PURPOSE: To study the normal dependence of cerebral perfusion changes on age, to measure values of perfusion early in life, and to create a reference dataset. MATERIALS AND METHODS: Perfusion maps were collected from a total of 44 healthy subjects (from four to 78 years old) using the arterial spin labeling (ASL) technique. The population was retrospectively divided into three age groups: children, teenagers, and adults. For each group, mean values of cerebral blood flow (CBF) were calculated in gray matter (GM) and white matter (WM). Results were compared across the three different age groups. RESULTS: CBF values decreased with age (97+/-5 mL/100 g/minute in GM and 26+/-1 mL/100 g/minute in WM for the children, GM 79+/-3 mL/100 g/minute and WM 22+/-1 mL/100 g/minute for the teenagers, and GM 58+/-4 mL/100 g/minute, WM 20+/-1 mL/100 g/minute for the adults). The quantitative results suggest a rapid drop, rather than a gradual decrease, in cerebral perfusion between children and adult subjects, especially in the GM. This step in CBF occurs during adolescence, at approximately the 16th year of age. CONCLUSION: ASL is a practical and quantitative technique suitable for perfusion measurement in children as well as adults. Perfusion measurements with ASL appear sensitive to neurophysiological changes occurring during brain maturation.

Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment?

Patients with Taylor-type focal cortical dysplasia (TTFCD) generally present with medically intractable epilepsy and impaired neurological and/or intellectual functioning. Surgery usually proves to be the only treatment approach leading to control of seizures. We describe a 17-year-old girl with TTFCD who exhibited a very long period of seizure remission. Combined clinical and neuroimaging findings were compatible with a diagnosis of a balloon cell-subtype TTFCD. As for the clinical course, partial motor seizures began at one year of age and ceased at five: our patient has had no seizure recurrence over a 12-year-follow-up. Moreover, throughout the 15-year follow-up, neurological examinations and cognitive abilities always remained within normal limits. Neuropsychological assessment clearly showed no impairments in executive functions: planning abilities, working memory, attention and impulse control, or constructive aspects of motor coordination. The predominant deficits pertained to verbal abilities in the context of borderline intellectual performances. To our knowledge, this case report documents the longest duration of seizure remission in a patient with TTFCD, thus emphasizing the possible benign course of such dysplastic lesions which usually have a poor prognosis, leading to early surgical treatment.

Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome.

We describe an Italian family in which two sisters have macrocephaly due to hydrocephalus, and sensorineural hearing loss in addition to other brain abnormalities demonstrated by Magnetic resonance imaging (MRI). The girls, born to healthy non-consanguineous parents, have borderline psychomotor development delay (probably due to hearing defect) and minor dysmorphisms. The clinical picture fits the Chudley-McCullough syndrome, an autosomal recessive condition, to date described in only five families. Our data, in particular the neuroradiological findings, include all brain anomalies variably reported in previous works (hydrocephalus, corpus callosum partial agenesis, interhemispheric cyst, cerebral and cerebellar cortex dysplasia), thus illustrating the full phenotype of the syndrome.

A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.

A new patient affected by Guanidinoacetate methyltransferase (GAMT) deficiency was reported. This 13-year-old girl presented with mental retardation, as main symptom, associated with a typical pattern of biochemical and neurochemical (brain magnetic resonance spectroscopy) alterations. Molecular study detected a L197P transition on exon 6 of the GAMT gene. Since this mutation leaves the isoform B of the GAMT enzyme unaffected, the occurrence of biochemical alterations and disease in this subject testifies against the possibility that isoform b had GAMT activity.