Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency.

Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system.

White matter spectroscopy in neuromyelitis optica: a case control study.

Background: Naa/Cr ratio in normal appearing white matter (NAWM) of patients with multiple sclerosis (MS) is altered beyond plaques, suggesting early axonal loss, and correlates to clinical disability. Brain lesions not typical of MS have been described in Neuromyelitis optica (NMO), and correspond to brain aquaporin-4 channel sites, but the evaluation of Naa/Cr ratio in NAWM of patients with NMO and its association to the presence of brain lesions and clinical disability have not been described.

Objectives: To evaluate the Naa/Cr of normal appearing white matter (NAWM) in 16 patients with NMO compared to healthy controls.

Basal encephalocele associated with morning glory syndrome: case report.

The basal encephaloceles refer to rare entities and they correspond to herniation of brain tissue through defects of skull along the cribiform plate or the sphenoid bone. A rare morning glory syndrome, with characteristic retinal defect has been reported in association with basal encephaloceles. Hypophysis hormonal deficiencies may occur.

Central precocious puberty associated with pituitary duplication and midline defects.

Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or result from congenital or acquired CNS lesions. We describe a 7.

Temporal pole signal abnormality on MR imaging in temporal lobe epilepsy with hippocampal sclerosis: a fluid-attenuated inversion-recovery study.

Objective: To determine the frequency and regional involvement of temporal pole signal abnormality (TPA) in patients with hippocampal sclerosis (HS) using fluid-attenuated inversion-recovery (FLAIR) MR imaging, and to correlate this feature with history.

Method: Coronal FLAIR images of the temporal pole were assessed in 120 patients with HS and in 30 normal subjects, to evaluate gray-white matter demarcation.

Results: Ninety (75%) of 120 patients had associated TPA.

Preliminary evaluation of the endovascular treatment of intracranial aneurysms with detachable coils in vigil patients.

Unlabelled: Endovascular treatment of intracranial aneurysms with coil embolization became the most important therapeutic option with better morbidity and mortality rates and quality of life. Following immobility, patients are treated with general anaesthesia.

Objective: To test viability of endovascular treatment on wake patients.

[Reference values for measures of blood flow velocities and impedance indexes in healthy individuals through conventional transcranial Doppler].

Objective: To establish reference values for measures of blood flow velocities and impedance indexes in healthy individuals through conventional transcranial Doppler (TCD) and to observe their variations in relation to the age and sex.

Method: 88 asymptomatic volunteers were examined without antecedents of cardiac, peripheral or cerebrovascular diseases. The TCD were accomplished by the same examiner.

[Arteriovenous malformation-glioma association: study of four cases].

We reviewed the clinical presentation, imaging and histopathologic findings in 4 patients with the diagnosis of arteriovenous malformation associated with glioma that were operated on from 1991 to 2000 in our institution. Four patients (2 males; age between 15 and 52 years) presented with progressive headache with clinical evidence of intracranial hypertension (in 3) and partial seizures (in 1). CT scan showed a brain tumor without any detectable pathologic vessels.