Rodica Mardari

Multimodal neuroimaging in a child with sporadic hemiplegic migraine: A contribution to understanding pathogenesis

Background: Hemiplegic migraine (HM) is a rare variety of migraine with aura, characterized by motor deficits during the aura, often beginning in childhood. The hemiplegic attacks can be severe and prolonged but the prognosis is usually good. Data on neuroimaging, including diffusion-weighted imaging (DWI) and spectroscopy, during prolonged attacks of HM are quite limited, particularly in children. Case: An eight-year-old female had a prolonged attack of sporadic HM characterized by right-sided hemiplegia, global aphasia, fever and impairment of consciousness. MRI nine hours after hemiplegia onset was negative, while the following MRI scans (days 4 and 11) documented a progressive increase in cortical swelling in the left hemisphere with mild hyperintensity on DWI and mild reduction of apparent diffusion coefficient values. Proton MRI spectroscopy (MRS) (day 15) showed a decrease in the N-acetylaspartate/creatine ratio in the left hemisphere. 99mTc-ECD single-photon emission tomography (SPET) (day 27) showed marked left hemispheric hypoperfusion. The patient recovered completely after 40 days and neuroimaging follow-up (MRI and SPET) after six months was normal. The patient carried a missense mutation of the ATP1A2 gene. Conclusion: Multimodal neuroimaging (MRI, DWI, MRS, SPET) in a prolonged HM attack supports evidence for a primary neuronal dysfunction.

Transverse dural sinuses: incidence of anatomical variants and flow artefacts with 2D time-of-flight MR venography at 1 Tesla

PurposeThis study sought to identify imaging criteria useful in discriminating anatomical variants from thrombosis of the posterior intracranial venous system.Materials and methodsA total of 102 patients underwent coronal unenhanced two-dimensional time-of-flight (2D ToF) magnetic resonance (MR) venography. Transverse sinus (TS) calibre and asymmetry were considered. Oval (O-FG) and linear (L-FG) flow gaps were recorded. Several slices of the 2D ToF sequence were applied perpendicularly to the TS within each FG to avoid in-plane saturation.ResultsMean calibre of the right TS was significantly greater than the contralateral sinus (6.5 mm±1.84 vs 5.1 mm±1.72). Right and left dominance was observed in 61% and 17% of cases, respectively. The mean right-left TS diameter was 5.77 mm. Among 204 TS, 44 L-FG and 42 O-FG were observed. Partial L-FG (<2/3 of TS) never involved the distal TS. No L-FG was observed in a dominant TS. Supplementary sagittal 2D ToF images disclosed blood flow in all but two L-FGs. O-FGs were mostly observed laterally (91%).ConclusionsL-FGs in a dominant TS, partial L-FGs in the distal part or O-FG in the medial part of any TS, a left-right mean diameter <3 mm and absence of flow even in ToF images perpendicular to the direction of blood flow should raise the suspicion of sinus pathology.RiassuntoObiettivoScopo di questo lavoro è stato identificare i criteri neuroradiologici per discriminare le varianti anatomiche dalle trombosi dei seni venosi della fossa cranica posteriore.Materiali e metodiCentodue pazienti sono stati sottoposti ad angio-risonanza magnetica (RM) 2D in tempo di volo (ToF) acquisita mediante sezioni coronali senza mezzo di contrasto. Sono stati valutati calibro ed asimmetria dei seni trasversi (ST). I difetti di riempimento sono stati classificati come ovalari (DO) e lineari (DL). Per evitare la saturazione degli spin sono state effettuate alcune sezioni 2D-ToF perpendicolarmente ad ogni difetto di riempimento.RisultatiIl diametro del ST destro è risultato significativamente più grande del controlaterale (6,5 mm±1,84 vs 5,1 mm±1,72); il diametro medio dei ST destro-sinistro è risultato di 5,77 mm. Il ST è risultato di calibro dominante a destra nel 61% ed a sinistra nel 17% dei casi. Dei 204 ST studiati, 44 presentavano DL e 42 DO. La parte distale dei ST non ha mai presentato DL parziali (meno di 2/3 del ST). Nessun DL è stato osservato nei ST dominanti. Le sezioni sagittali 2D-ToF supplementari hanno dimostrato la pervietà dei ST in tutti i DL, tranne che in due casi. I DO sono stati riscontrati nel 91% dei casi nella porzione laterale dei ST.ConclusioniSi dovrebbe sospettare una patologia a carico dei seni trasversi ogniqualvolta si riscontri: DL in un ST dominante; DL parziali nella parte distale del ST; DO nella parte mediale del ST; diametro medio dei ST inferiore a 3 mm; assenza di flusso ematico anche nelle sequenze 2D-ToF perpendicolari alla direzione di flusso.

Delayed myelination is not a constant feature of Allan–Herndon–Dudley syndrome: Report of a new case and review of the literature

INTRODUCTION Allan-Herndon-Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate transporter 8 gene. This syndrome is characterized by axial hypotonia, severe mental retardation, dysarthria, athetoid movements, spastic paraplegia, and a typical thyroid hormone profile. In most of the cases reported so far, brain magnetic resonance imaging showed delayed myelination of the central white matter and this finding greatly affects the diagnosis of the syndrome. CASE REPORT We present a new case studied with magnetic resonance imaging and spectroscopy and we reviewed all the articles published between 2004 and 2012 containing information on brain neuroimaging in this syndrome. An Italian boy, showing a classical phenotype of the syndrome, was diagnosed at 17months of age. Genetic analysis revealed a new frameshift mutation of the monocarboxylate transporter 8 gene. His brain magnetic resonance imaging and spectroscopy, performed at the age of 14months, were normal. DISCUSSION Among the 33 cases reported in the literature, 3 cases had normal neuroimaging and in 7 of 14 cases, having a longitudinal follow-up, the initial finding of delayed myelination gradually improved. Our case and the review of the pertinent literature suggest that Allan-Herndon-Dudley syndrome should be suspected in males with the typical neurological and thyroid profile, even in cases with normal brain myelination.

Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

BACKGROUND AND PURPOSE: Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of the foramen ovale and inferior alveolar nerve canal in a cohort of oculo-auriculo-vertebral spectrum patients. MATERIALS AND METHODS: Twenty-nine patients with oculo-auriculo-vertebral spectrum (mean age, 7 years; age range, 0.2–31 years; 12 females) underwent brain MR imaging, CT, and neurologic evaluation; 19 patients had a more severe phenotype (Goldenhar syndrome). RESULTS: Cranial nerve abnormalities were detected only in patients with Goldenhar syndrome (17/19, bilaterally in 8) and were involved the second (4/19), third (1/18), fifth (11/19), sixth (8/16), seventh (11/18), and eighth (8/18) cranial nerves. Multiple cranial nerve abnormalities were common (11/17). Eleven patients showed bone foramina abnormalities. Trigeminal and facial nerve dysfunctions were common (44% and 58%, respectively), especially in patients with Goldenhar syndrome. Trigeminal abnormalities showed a good correlation with ipsilateral dysfunction (P = .018), which further increased when bone foramina abnormalities were included. The facial nerve showed a trend toward correlation with ipsilateral dysfunction (P = .081). Diplopia was found only in patients with Goldenhar syndrome and was associated with third and sixth cranial nerve abnormalities (P = .006). CONCLUSIONS: Among patients with oculo-auriculo-vertebral spectrum, cranial nerve morphologic abnormalities are common, correlate with phenotype severity, and often entail a functional impairment. The spectrum of cranial nerve abnormalities appears wider than simple hypo-/aplasia and includes an anomalous cisternal course and partial/complete fusion of diverse cranial nerves.

Short lasting activity-related headaches with sudden onset in children: a case-based reasoning on classification and diagnosis.

BackgroundShort lasting headaches related to activity or cough are rare, particularly in childhood, and can be difficult to diagnose, especially in young children who are not able to describe their symptoms. In the literature there are few data on this topic in adults and the paediatric cases reported are even more rare.FindingsWe present the clinical history of a 7-year-old child and a 3-year-old child both diagnosed as having activity-related headaches, characterized by sudden onset of short lasting (few seconds) attacks, that were triggered by cough or exercise. There were no accompanying symptoms and the neurological examination was normal in both cases. Brain magnetic resonance imaging showed, in the first case, a cerebellar pilocytic astrocytoma and, in the second case, a Chiari 1 malformation. Both cases received an early diagnosis, were surgically treated and had a good prognosis at follow-up.ConclusionsWhen headache has a recent onset, it presents suddenly, and it is triggered by strain, even with normal neurological examination, neuroimaging is mandatory in order to exclude secondary headaches, especially in children.

Neuroimaging changes in menkes disease, part 1

SUMMARY: Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.

Pontocerebellar angle aspergillosis: clinical and radiological findings.

IntroductionCerebral aspergillosis is a rare and severe condition mostly affecting immunocompromised patients. The lesions are usually intra-axial and supratentorial; several radiologic patterns have been reported. Case ReportA 65-year-old patient with chronic lymphocytic leukemia presented with fever, headache, and a pontocerebellar syndrome. A brain magnetic resonance imaging (MRI) showed a ring-enhancing left pontocerebellar mass consistent with an infectious disease. Despite broad-spectrum antibiotic therapy, the patient worsened. A follow-up MRI examination disclosed a concomitant acute ischemic lesion in the ipsilateral thalamus and an irregular narrowing of the posterior cerebral artery close to the lesion. A retrospective analysis of the first MRI revealed a small mesencephalic ischemic lesion, contiguous to the extra-axial pontocerebellar mass. At surgical inspection the mass was found to be an extra-axial granuloma, with purulent components, attached to the petrous-tentorial angle, surrounded by a thick capsule. The lesion was only partially removed because of the tight relationship with the leptomeninges of the brain stem. Cerebral aspergillosis was the final histologic and microbiological diagnosis. ConclusionIn immunocompromised patients, the coexistence of an infectious lesion with involvement of contiguous vessels and consequent ischemic infarction should raise the suspicion of aspergillosis, even in unusual locations such as the pontocerebellar angle.

Bilateral loss of cortical SEPs predict severe MRI lesions in neonatal hypoxic ischemic encephalopathy treated with hypothermia

OBJECTIVE The introduction of therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy calls for reevaluation of the prognostic role of somatosensory evoked potentials (SEPs). METHODS Among 80 consecutive neonates undergoing hypothermia for hypoxic-ischemic encephalopathy, 58 performed SEPs and MRI at 4-14 days of life and were recruited in this multicenter study. SEPs were scored as: 0 (bilaterally/unilaterally recorded N20) or 1 (bilaterally absent N20). The severity of brain injury was scored using MRI. RESULTS Bilaterally absent N20 was observed in 10/58 neonates (17%); all had moderate/severe MRI abnormalities; 36/48 neonates (75%) with score 0 at SEPs had normal MRI. The positive predictive value of SEPs on MRI outcome was of 1.00, while the negative predictive value 0.72, sensitivity 0.48, specificity 1.00, with an accuracy of 0.78 (p < .001). CONCLUSIONS Bilateral absence of cortical SEPs predicts moderate/severe MRI pattern of injury. SIGNIFICANCE Therapeutic hypothermia does not seem to significantly affect prognostic reliability of SEPs.

7. Bilateral absence of cortical SEP and neuroimaging: Study of a cohort of 40 neonates suffering from hypoxic-ischemic encephalopathy treated with therapeutic hypothermia

The prognostic role of SEPs in neonatal hypoxic-ischemic encephalopathy (HIE) was documented before the advent of therapeutic hypothermia (HT). Brain MRI as an established role as outcome measure in neonatal HIE. The prognostic role of the SEP has not been studied. The aim of this study is to evaluate the prognostic role of SEP in neonatal HIE undergoing HT, using MRI as an outcome measure, since it has not been studied. We prospectively recruited 40 neonates with HIE treated with IT using TOBY’s criteria (2009–2011). The protocol includes SEP within the 1st week of life and brain MRI at the 2nd week of life. The recordings and the images were scored by Suppiej et al. (2010) and Glass et al. (2011), respectively. Bilateral absence of cortical SEP was associated to moderate and severe neuroimaging lesions with a PPV of 80% and NPV of 81% (sensitivity of 44% and specificity of 96%). Bilateral absence of cortical SEP is associated with MRI severe lesions, which are known to predict severe neuromotor disabilities. These data suggest that the prognostic role of SEPs is confirmed in neonatal HIE treated with IT.