Juan Viaño

Sturge-Weber Syndrome. Study of 55 Patients

PURPOSE To review the clinical and neuroimaging features of a large series of patients with Sturge-Weber syndrome (SWS) seen over a 40-year period. METHODS Fifty-five patients with SWS (30 males and 25 females), were studied between 1965 and 2004. Results of neurological and ophthalmological examinations, electroencephalographic, and neuroimaging studies were reviewed. All patients were seen by one of the authors (I. P-C). RESULTS Epilepsy, hemiparesis, mental retardation and ocular problems were the most frequent and severe features of patients with Sturge-Weber syndrome in this series. The facial nevus flammeus was unilateral in 35 (63.5%) patients, bilateral in 17 (31%) and absent in 3 (5.5%) of the patients with leptomeningeal angiomas. Seven (41%) of the 17 patients with bilateral nevus flammeus had unilateral leptomeningeal angiomas. Seizures occurred in 47 patients (85.5%). Complete seizure control was obtained in 20 patients (42.5%), but in 2 of these 20 patients seizures were controlled only after lobectomy. All patients with unilateral or bilateral upper eyelid nevus flammeus had ipsilateral, unilateral or bilateral choroid-retinal angiomas. Only 20 (36%) of the 55 patients had low-normal or borderline intelligence (IQs < 70). No relationship was observed between the size of the facial nevus flammeus and the severity of the brain lesion. CONCLUSIONS Epilepsy, hemiparesis, mental retardation and ocular problems were the most frequent and severe features of patients with Sturge-Weber syndrome in this series. Cerebral lesions followed a progressive course during early childhood, but not later. Early surgical treatment controlled the seizures but other neurological problems such as hemiparesis and intellectual deficits showed a less satisfactory response. Early onset of seizures and poor response to medical treatment, bilateral cerebral involvement and unilateral severe lesions were indicative of a poor prognosis. Limited intelligence and social skills, poor aesthetic appearance and seizures complicated the integration of SWS patients. These features must be addressed in order for the patients improve social interactions, obtain gainful employment and achieve a better quality of life.

Unilateral polymicrogyria: a common cause of hemiplegia of prenatal origin

We describe a series of 13 patients, ten males and three females, with ages ranging between three and fourteen years, who show unilateral polymicrogyria (in the left cerebral hemisphere in four cases and in the right in nine). The first and the main clinical alteration in all 13 cases was hemiparesis that did not change along the years. Ten patients had seizures that were completely controlled in seven. Three cases never presented seizures. Spontaneous threat of abortion or arterial hypertension during the first five months of pregnancy occurred in five cases. Weight less than 3 kg at birth was observed in six cases. The only patient who shows severe mental retardation associated with deafness is a girl who had infantile spasms at 20 days of age and presents duplication of a short arm of the chromosome X. Conventional magnetic resonance (MR) studies, performed in four cases did not disclose polymicrogyria but only an enlarged cortex that was diagnosed as cortical dysplasia. Three-dimensional MR (3DMR) images are very important not only to see the polymicrogyria, but also its extension and severity, especially if, moreover the axial, coronal and sagittal views, oblique, frontal, occipital, basal and superior images of the hemispheric cortical surface are performed.

Proton Magnetic Resonance Spectroscopy and Magnetoencephalographic Estimation of Delta Dipole Density: A Combination of Techniques That May Contribute to the Diagnosis of Alzheimer's Disease

Whole-head magnetoencephalographic recordings were obtained from 10 patients with Alzheimer’s disease (AD) and 10 healthy controls in a resting position. Spectroscopic examinations were performed by means of a 1.5-tesla whole-body scanner in the temporoparietal regions of both hemispheres. The relationship between 1H-MRS-based and magnetoencephalography (MEG)-based measures and their conjoined capability to improve the diagnosis of AD were investigated in this study. Logistic regression analyses were performed. Three separated logistic models were calculated for 1H-MRS-based metabolites, low-frequency magnetic activity, and the combination of both measures. A combined myoinositol/N-acetyl aspartate (mI/NAA)-delta dipole density (DD) model predicted the diagnosis with 90% sensitivity and 100% specificity. Additionally, the combination of temporoparietal mI/NAA and delta DD values explained the variability of individuals’ cognitive status. The results support the notion that a multidisciplinary approach may improve the understanding and diagnosis of AD.

Cobb syndrome: case report.

We present a 7-year-old boy in whom cutaneous hemangioma and intramedullary and paraspinal arteriovenous malformations were associated. Magnetic resonance arteriography revealed the presence of the two arteriovenous malformations, and the selective intercostal arteriography demonstrated that the intraspinal and paraspinal arteriovenous malformations were supplied by the same intercostal arteries. Rubbing the back was required to detect the cutaneous changes, which were only suspected by casual inspection. (J Child Neurol 2002; 17: 847—849).

Evidence of Biochemical and Biomagnetic Interactions in Alzheimer’s Disease: An MEG and MR Spectroscopy Study

Background: Several neuroimaging studies have shown reliable differences between Alzheimer’s disease (AD) patients and age-matched controls. However, few studies have demonstrated the interactions between neuroimaging methods for the diagnoses of AD. Objective: In this study, we try to elucidate the complementary nature of magnetoencephalography (MEG) and magnetic resonance spectroscopy (MRS) examinations in the assessmentof AD. Methods: Ten patients fulfilling the NINCDS-ADRDA criteria of probable AD, and 10 elderly individuals with no history of neurological or psychiatric illness serving as age-matched controls participated in the study. All patients and controls received an MRS, MEG and neuropsychological assessment. MEG data were obtained in the context of a working memory task, previously utilized in a similar sample of patients. Results: The AD group showed a reduced number of activity sources over left temporoparietal areas during the late portion of the evoked magnetic field (between 400–800 ms), as well as a bilateral temporoparietal increase in creatine and myoinositol concentrations, and in the myoinositol/N-acetyl-aspartate ratio. The combination of the variables ‘number of dipoles during the late portion of the evoked magnetic field’ and ‘myoinositol/N-acetyl-aspartate ratio’ accounted for 65% of the variance of the Mini Mental State Examination scores. Conclusions: These results highlight the importance of assessing the complex brain pathology underlying AD by utilizing multiple brain examination modalities in a coordinate approach.

Bilateral spinal neurofibromas in patients with neurofibromatosis 1.

Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome that can be inherited as autosomal dominant or may appear due to a de novo mutation. We present 8 patients (5 M and 3 F) with sporadic or non-familial spinal neurofibromatosis 1 (non-FSNF1) associated with bilateral spinal neurofibromas involving all of the paraspinal nerves. To our knowledge, this is the first series of such association described in the literature. Their ages ranged from 6 months to 20 years (average 9.8 years) at the time of radiological diagnosis. This presentation appears to be earlier than in familial spinal neurofibromas in NF1 (FSNF1). Predisposition to malignancy probably is greater in the non-FSNF1 type. MRI studies were performed routinely in all patients with NF1 and these were complemented with MRI enhanced with gadolinium and repeated at different ages in cases with paraspinal tumors. Coronal views provided the best evidence for the presence of neurofibromas in every spinal nerve. The size of the tumors and the clinical complications increased with advancing age in most patients. Giant plexiform tumors were often seen in the cervico-thoracic region. Malignant peripheral nerve sheath tumors (MPNST) were found in one patient with a sciatic tumor and another patient died suddenly at home without necropsy or pathological study. Voluminous paraspinal neurofibromas can be at risk for malignancy. More frequent neuroimaging studies may be necessary for an earlier detection. Early surgical treatment to anticipate the occurrence of MPNST during surveillance could be an option. Bilateral spinal neurofibromas are found in both patients who inherited the NF1 and in those due to de novo mutations.

Major and Minor Arterial Malformations in Patients With Cutaneous Vascular Abnormalities

The association of persistent embryonic arteries and the absence of 1 carotid or vertebral arteries with facial or neck hemangioma or vascular malformation have been frequently described. The abnormalities can involve major or minor vessels. Of 22 patients of our series with this neurocutaneous syndrome, 20 had the origin of both anterior cerebral arteries from the same internal carotid artery. Thirteen patients showed absence or hypoplasia of 1 carotid artery and 10 of 1 vertebral artery; 10 showed persistence of the trigeminal artery; 3 had persistent proatlantal artery; 6 showed the absence of the posterior communicating artery; and 4 had hypoplastic posterior cerebral artery. Other less frequent abnormalities were found in 7 patients. Intellectual level of most patients was either borderline or below normal. Abnormalities in the vascularization and perfusion of the frontal lobes may contribute to the borderline or lower mental level of these patients.

Diplegia due to transcranial knife-blade injury in a 20-month-old child.

Transcranial stab wounds are uncommon among both adults and adolescents and rarely occur in children, particularly when caused by another child. A 20-month-old girl was injured by a 3-year-old cousin, who introduced a knife blade into the brain through the left parietal region. The trajectory of the wound penetrated at least 5 cm, crossed the falx cerebri, and involved both motor cortical areas. The clinical sequela was a severe symmetric spastic diplegia. (J Child Neurol 2006;21:340—341; DOI 10.2310/7010.2006.00065).