Sabrina Avignone

Altered prefrontal cortex activity during working memory task in Bipolar Disorder: A functional Magnetic Resonance Imaging study in euthymic bipolar I and II patients

BACKGROUND Working memory (WM) deficits are among the most frequently impaired cognitive domains in patients with Bipolar Disorder (BD), being considered promising cognitive endophenotype of the disorder. However, the related neurobiological correlates still deserve further investigation. The present study was aimed to explore whether dorsolateral prefrontal cortex (DLPFC) activity during WM processing was abnormal in euthymic bipolar patients and may represent a potential trait-related phenotype associated with the disorder. METHODS Using 3 Tesla functional Magnetic Resonance Imaging (3T fMRI), we studied 28 euthymic bipolar patients (15 BDI and 13 BDII), and 27 healthy controls (HCs), matched for a series of socio-demographic variables, while performing the N-back task for WM assessment. RESULTS We found that euthymic bipolar patients showed increased right middle frontal gyrus engagement compared with HCs (FWE-corrected p = 1 × 10(-3)), regardless of WM load, and in spite of similar WM behavioral performance between groups. In particular, BDI patients had greater BOLD signal change compared to HCs (post-hoc Tukey HSD, p = 1 × 10(-3)), while BDII patients expressed an intermediate pattern of activation between BDI patients and HCs. No other significant effects were detected in the corrected whole-brain analysis. LIMITATIONS Sample size, cross-sectional assessment and potential influence of some clinical variables. CONCLUSIONS Results provide direct evidence of a primary physiological abnormality in DLPFC function in BDI and II, even in the absence of behavioral differences with HCs. Such exaggerated fMRI response suggests inefficient WM processing in prefrontal circuitry, and further studies are warranted to investigate whether the dysfunction is related to the genetic risk for the disorder.

Electroclinical phenotype in Rubinstein-Taybi syndrome.

OBJECTIVE Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurological features are scant and dated. The aim of this study is to describe the electroclinical phenotype of twenty-three patients with RSTS, and to try to correlate electroclinical features with neuroradiological, cognitive and genetic features. PATIENTS AND METHODS Electroclinical features of twenty-three patients with RSTS (age between18months and 20years) were analyzed. Sleep and awake EEG was performed in twenty-one patients, and brain MRI in nineteen patients. All subjects received cognitive evaluation. RESULTS EEG abnormalities were observed in 76% (16/21) of patients. A peculiar pattern prevalent in sleep, characterized by slow monomorphic activity on posterior regions was also observed in 33% (7/21) of patients. Almost no patient presented seizures. Eighty-four percentage of patients had brain MRI abnormalities, involving corpus callosum and/or posterior periventricular white matter. Average General Quotient (GQ) was 52, while average IQ was 55, corresponding to mild Intellectual Disability. The homogeneous electroclinical pattern was observed mainly in patients with more severe neuroradiologic findings and moderate Intellectual Disability/Developmental Disability (ID/DD). No genotype-phenotype correlations were found. CONCLUSION The specific electroclinical and neuroradiological features described may be part of a characteristic RSTS phenotype. Wider and longitudinal studies are needed to verify its significance and impact on diagnosis, prognosis and clinical management of RSTS patients.

48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome

BackgroundSex chromosomal aneuploidies in males are rare diseases with an overwhelming involvement of endocrinological and auxological issues; less frequently, other anomalies are observed. Neuroradiological issues are often not taken into account in single patients, and neuroradiological examinations are rarely performed.Case presentationHere, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild hypertelorism, inverted nipples, a congenital hip dysplasia, and some neuroradiological features so far not described. The Magnetic Resonance Imaging showed white matter abnormalities and enlargement of lateral ventricles with never described dysmorphisms of cranio-cervical junction and posterior fossa. A cranio-cervical Computerized Tomography confirmed a dysmorphic aspect of the posterior fossa and occipital condyles, slight morphological asymmetry of C1 and slight lateralization to the right of the odontoid’s apex.ConclusionsConsidering the possible relevant clinical impact of these findings, the neuroradiological assessment seems potentially useful to the diagnostic approach of these patients.

The ‘full-blown’ MRI of sudden hearing loss: 3D FLAIR in a patient with bilateral metastases in the internal auditory canals

We report a case of a 57-year-old man with bilateral masses in the internal auditory canal. The peculiar findings at magnetic resonance imaging with tridimensional fluid-attenuated inversion recovery sequence combined with clinical data provided new insights into understanding the pathophysiology of the hearing loss.

Peri-lead edema after DBS surgery for Parkinson's disease: a prospective MRI study

The aim of this study was to define the prevalence and characteristics of peri‐electrode edema in a prospective cohort of patients undergoing deep brain stimulation (DBS) surgery and to correlate it with clinical findings.

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

Rubinstein–Taybi syndrome is a rare, autosomal dominant, plurimalformative disorder that is clinically characterized by intellectual disability and a wide spectrum of congenital anomalies; facial dysmorphisms are typical, and broad thumbs and great toes are particularly distinctive. Its genetic basis is only partially known, with a detection rate of approximately 65–70%; specifically, microdeletions or mutations in the CREBBP or EP300 genes can be found. Much is known about its clinical features and health‐care protocols, but some areas of clinical knowledge are currently unsolved. In particular, few efforts have been made until now to understand the variability in the neuropsychological and neurobehavioral profile and to deepen knowledge of the neuroradiological malformative pattern. Consequently, little is known about the possible genotype‐phenotype correlations of these issues. Here, we report clinical and genetic data from a cohort of 23 RSTS Italian patients. The most common features in brain magnetic resonance imaging (MRI) were dysmorphic aspects of the corpus callosum (73.6%) with or without minor dysmorphisms of cerebellar vermis, periventricular posterior white matter hyperintensity, and other less common anomalies. The most interesting feature on the whole spine MRI scans was the tendency for a low‐lying conus medullaris without terminal filum thickening. These data will help to improve neuropsychiatric and neuroradiological knowledge and highlight specific genotype‐phenotype correlations.

Fetal development of the corpus callosum : Insights from a 3T DTI and tractography study in a patient with segmental callosal agenesis

Commissural embryology mechanisms are not yet completely understood. The study and comprehension of callosal dysgenesis can provide remarkable insights into embryonic or fetal commissural development. The diffusion tensor imaging (DTI) technique allows the in vivo analyses of the white-matter microstructure and is a valid tool to clarify the disturbances of brain connections in patients with dysgenesis of the corpus callosum (CC). The segmental callosal agenesis (SCAG) is a rare partial agenesis of the corpus callosum (ACC). In a newborn with SCAG the DTI and tractography analyses proved that the CC was made of two separate segments consisting respectively of the ventral part in the genu and body of the CC, connecting the frontal lobes, and the dorsal part in the CC splenium and the attached hippocampal commissure (HC), connecting the parietal lobes and the fornix. These findings support the embryological thesis of a separated origin of the ventral and the dorsal parts of the CC.

Suspected fetal brain metallic embolic microfragment detected by MR imaging

Division of Neuroradiology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milano, Milan, Italy NICU, Department of Clinical Sciences and Community Health, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milano, Università degli Studi di Milano, Milan, Italy Division of Prenatal Diagnosis, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milano, Milan, Italy Division of Radiology and Neuroradiology, Children’s Hospital “V. Buzzi”, Milan, Italy *Correspondence to: Monica Fumagalli. E-mail: monica.fumagalli@mangiagalli.it

Occlusione del sifone carotideo in paziente con lesione granulomatosa dell’ipofisi

cefalea, deficit erettile e astenia, veniva valutato presso il Day Hospital della nostra Unità Operativa con riscontro di un quadro di panipopituitarismo e diabete insipido, per i quali iniziava una adeguata terapia sostitutiva con miglioramento della sintomatologia. Il paziente veniva sottoposto ad una risonanza magnetica nucleare (RMN) della regione sellare con e senza mezzo di contrasto (Figura 1A e B), che evidenziava la presenza di una lesione espansiva della ghiandola ipofisaria che si estendeva al seno cavernoso di sinistra ed al tratto intracavernoso della carotide sinistra fino alla biforcazione. Veniva segnalata l’occlusione del sifone carotideo sinistro con estensione caudale sino a C2. Una successiva AngioTC (Figura 2) confermava l’occlusione del sifone carotideo sinistro fino al tratto sovraclinoideo con una possibile rivascolarizzazione dell’arteria cerebrale media di sinistra attraverso le arterie comunicanti anteriore e posteriore. Le caratteristiche neuroradiologiche ponevano il sospetto di lesione granulomatosa dell’ipofisi. Il paziente veniva successivamente sottoposto a biopsia con quadro istologico che confermava la presenza di una lesione granulomatosa cronica. I successivi controlli neuroradiologici hanno poi evidenziato la stabilità dimensionale della lesione ipofisaria. febbraio Vol. 13, n° 1

Diagnosi e terapia degli adenomi ipofisari non funzionanti

RiassuntoGli adenomi ipofisari non funzionanti (NFPA) sono caratterizzati dall’assenza di ipersecrezione ormonale e quindi di una presentazione clinica specifica. Per questo motivo la diagnosi viene solitamente posta quando il tumore ha raggiunto grandi dimensioni; in questi casi, i segni e i sintomi riscontrabili sono legati all’effetto massa del tumore. Il trattamento di prima scelta degli NFPA è l’asportazione chirurgica della lesione per via transnasosfenoidale (TNS), soprattutto in caso di lesioni che determinino un significativo effetto massa e che coinvolgano in particolare la regione del chiasma ottico. Nel caso si riesca a ottenere la guarigione chirurgica, ossia l’assenza di residuo tumorale al primo controllo neuroradiologico post-intervento, la recidiva di malattia è poco probabile e un follow-up neuradiologico, oftalmologico ed endocrinologico è sufficiente. In presenza di un residuo lesionale, invece, data l’alta probabilità di ricrescita nel tempo, andranno attentamente considerate le opzioni di un reintervento chirurgico oppure di una radioterapia adiuvante, che garantisce un’ottima efficacia in termini di controllo di malattia, sebbene sia gravata da una potenziale tossicità a lungo termine. In casi selezionati, infine, si potrà considerare l’ipotesi di una terapia medica. Indipendentemente dall’approccio scelto, il paziente con NFPA necessita di una periodica ma costante rivalutazione del quadro neuroradiologico, oftalmologico e della funzione anteroipofisaria, con la correzione ove necessario di eventuali deficit tropinici associati.