Bilateral Microphthalmia with Optic Nerve Hypoplasia and Achiasmia.

A 15-year-old boy underwent neurological and ophthalmological evaluation. At birth, a severe bilateral microphthalmia, micropenis, and scrotal hypoplasia were diagnosed. Ophthalmologic examination showed right anophthalmia and severe left microphthalmia. Radiological examination showed normal orbital and skull structures. Magnetic resonance imaging (MRI), revealed the absence of the right eye, left microphthalmia, optic nerve hypoplasia, aplasia of the optic chiasm, and tracts. Audiometric examination and electroencephalogram were normal. There was no mental retardation. The chromosomal examination was normal. The patient is examination was also negative for any type of known risk factors.

Cerebrovascular disorders in the prenatal period.

Fetal stroke can occur between the 14th week of pregnancy and the beginning of labor. The incidence is approximately 17-35 of 100,000 live births. Risk factors are correlated to the mother, the pregnancy, or the factors associated with the fetus itself. Computerized tomography and magnetic resonance imaging are the most commonly used imaging techniques. The authors studied 3 cases with neurological symptoms by magnetic resonance imaging and magnetic resonance-angiography. In these cases, the authors found massive involvement of the left hemisphere that was presumptively correlated with the persistence of the oval foramen. Magnetic resonance-angiography showed a flow reduction in the left cerebral vessels, and in 1 case, there was also persistence of the fetal primitive trigeminal artery. The discrepancy between the extent of the cerebral lesions and the neurological symptoms is associated with cerebral plasticity, which is greater in damage occurring early in fetal life.

Costello syndrome: cognitive and proton magnetic resonance spectroscopy findings--a case report.

The authors describe a girl with Costello syndrome who showed cerebral palsy and neurosensorial deafness. Brain computer tomography and magnetic resonance findings were normal. Multivoxel proton magnetic resonance spectroscopy showed a lowering of the peak of choline with a reduced choline/creatine ratio at the level of the centrum semiovale. These findings might be due to a congenital dysmyelinating or hypomyelinating condition. A complete neuroimaging study can play a relevant role to better clarify the pathogenesis of brain involvement in Costello syndrome.

Influence of MTHFR genotype on contingent negative variation and MRI abnormalities in migraine.

BACKGROUND: The MTHFR C677T genotype has been associated with increased risk of migraine, particularly of migraine with aura (MA) in selected clinical samples and with elevated homocysteine. The hyper-homocysteinemia may favor the vascular and neuronal mechanism underlying migraine, and the risk of stroke. OBJECTIVE: The first aim of the present study was to examine the Contingent Negative Variation (CNV) amplitude and habituation pattern in a migraine sample versus non-migraine subjects, at the light of the MTHFR genotype, according to an unrelated and clinical based case-control panel. The second aim was to compare the frequency of Magnetic Resonance Imaging (MRI) subclinical brain lesions across the different C677 genotypes in the same migraine sample, selected for the young age and the absence of any cardiovascular risk factor. METHODS: One hundred and five 18-45 year old out-patients, 90 affected by migraine without aura (MO) and 15 by MA, and 97 non-migraine healthy subjects, age and sex matched, were selected for the genetic analysis. All subjects had a common ethnic origin from Puglia. Sixty-four migraine subjects and 33 control subjects were submitted to the recording of the CNV. All migraine subjects underwent the MRI evaluation. RESULTS: The frequency of homozygosis was 14.33% in normal subjects, versus 25.7% in MA + MO group (chi2-test: 10.80 P= .001). The frequency of homozygosis in MO patients, was 25.5% (MA versus N: chi2-test: 9 P= .003), in MA group it was 26.6%. Considering the MTHFR genotype in migraine patients and controls, the C677TT subjects exhibited a reduced habituation index of the early CNV (iCNV), in respect with both C677TC and C677CC; in the migraine group, there was a significant decrease of CNV habituation in patients with homozygosis and a positive correlation between the habituation index values and the homocysteine levels. Nineteen migraine patients exhibited subclinical brain lesions (18.05%): patients with C677T homozygosis did not exhibit a higher risk for MRI abnormalities. CONCLUSIONS: This unrelated and clinical based case-control study showed that genetically induced hyper-homocysteinemia may favor the neuronal factors predisposing to migraine, while it does not influence the presence of subclinical vascular brain lesions probably linked with increased risk of stroke.

Lhermitte-Duclos disease: MR diffusion and spectroscopy.

AIM: To describe two cases of Lhermitte-Duclos disease studied with Diffusion MRI and MRi Spectroscopy. MATERIALS AND METHODS: Two patients showing a space-occupying lesion in the cerebellar hemisphere were studied by conventional MRI associated with Diffusion MRI and Spectroscopy. RESULTS: Conventional MRI showed the typical morphological pattern of Lhermitte-Duclos disease with a slow-growing cerebellar mass mainly involving the cortex and non-enhancing thickened cerebellar folia. The mass exerted mild compression of the IV ventricle causing hydrocephalus On Diffusion imaging showed the lesion to be hyperintense due to residual T2-activity and hypointense on the ADC map. Spectroscopy was typical with an increased lactate peak and a reduced choline peak, indicating abnormal anaerobic glycolysis and demyelination, respectively. DISCUSSION: Lhermitte-Duclos disease is a neurological condition which presents several signs and symptoms related to the cerebellar mass. Cowden's syndrome, an autosomal dominant neoplastic disorder with malignant features is associated in 40% of cases. MRI associated with functional examinations such as Diffusion Imaging and Spectroscopy is the imaging modality of choice in LDD patients. They allow a definite diagnosis as the neuroradiological findings correlate well with molecular biology theories regarding the malformative nature of dysplastic cerebellar gangliocytoma.

Brain abscess: a need to screen for pulmonary arteriovenous malformations.

BACKGROUND: Pulmonary arteriovenous malformations (PAVMs) are direct connections between an artery and a vein in the pulmonary circulation associated with hereditary hemorrhagic telangiectasia in up to 88% of cases. Patients with PAVMs are at increased risk of brain abscess (BA). This study aimed to provide preliminary data on the prevalence of PAVMs among BA patients. METHODS: Administrative hospital discharge forms were used to identify patients with BA; possible PAVM patients were screened. RESULTS: 126 patients with BA were identified. Two patients had undiagnosed PAVMs at the time of admission for BA. The age-adjusted incidence of BA was 6.3 cases/1 million/year, with a male:female ratio of 2.0. CONCLUSION: Although PAVMs are rare conditions, they play a role in the development of BA. PAVMs are usually not recognized at the time of BA, thus exposing patients to life-threatening risks.

Topographic and dipolar analysis of laser-evoked potentials during migraine attack.

OBJECTIVE: The aim of this study was to perform further evaluation of laser-evoked potentials (LEPs) during migraine attacks using multichannel recording and topographic analysis. Specifically, this study aimed to confirm the pattern previously observed in acute migraine, while also defining the components of LEPs that are mainly modified during headache, as well as the correlation between features of LEPs and clinical variables. In addition, we aimed to conduct a dipolar source analysis of the main LEP waves in migraine patients to check the variability in the source location of LEPs during acute migraine. BACKGROUND: An amplitude enhancement of LEPs was previously detected during migraine attack using a single scalp derivation on the vertex; hyperalgesia to heat stimuli was also detected for both the face and hand. METHODS: Eighteen patients suffering from migraine without aura were analyzed. The supraorbital zones and the dorsum of the hand were stimulated on both the symptomatic and nonsymptomatic sides in all patients. The LEPs were recorded via 25 scalp electrodes. Dipolar source analysis of the P2 components was performed using a spherical model in all patients and using a realistic Magnetic Resonance model in four patients. RESULTS: During attacks, the later waves, and particularly the P2 component, were significantly enhanced; the amplitude of the P2 component obtained during the attack by stimulation of the supraorbital zone on the side of the headache was significantly correlated with the intensity of pain and the frequency of headache. In our patients, the P2 wave was generated in the anterior cingulate cortex, with a shift toward its rostrocaudal portion, and was mainly devoted to elaboration of the emotive compound of pain during migraine attack. CONCLUSIONS: Cortical activation by laser stimuli during migraine attack was confirmed. This effect was more pronounced in patients with a higher frequency of migraine attacks. This may be due to a lack of inhibitory control over the transmission of pain to the cortex. The increased activation of cortical areas devoted to attention and emotion may be linked to headache.