Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment.

We report the case of a patient with hereditary ceruloplasmin deficiency due to a novel gene mutation in ceruloplasmin gene (CP), treated with fresh frozen plasma (FFP) and iron chelation therapy. A 59-year-old man with a past history of diabetes was admitted to our department due to progressive gait difficulties and cognitive impairment. Neurological examination revealed a moderate cognitive decline, with mild extrapyramidal symptoms, ataxia, and myoclonus. Brain T2-weighted MR imaging showed bilateral basal ganglia hypointensity with diffuse iron deposition. Increased serum ferritin, low serum copper concentration, undetectable ceruloplasmin, and normal urinary copper excretion were found. The genetic analysis of the CP (OMIM #604290) reported compound heterozygosity for two mutations, namely c.848G > A and c.2689_2690delCT. Treatment with FFP (500 mL i.v./once a week) and administration of iron chelator (Deferoxamine 1000 mg i.v/die for 5 days, followed by Deferiprone 500 mg/die per os) were undertaken. At the 6-month follow-up, clinical improvement of gait instability, trunk ataxia, and myoclonus was observed; brain MRI scan showed no further progression of basal ganglia T2 hypointensity. This case report suggests that the early initiation of combined treatment with FFP and iron chelation may be useful to reduce the accumulation of iron in the central nervous system and to improve the neurological symptoms.

Intra-arterial or intravenous thrombolysis for acute ischemic stroke? The SYNTHESIS pilot trial.

OBJECTIVE To assess the feasibility, safety and preliminary efficacy of intra-arterial thrombolysis (IAT) compared with standard intravenous thrombolysis (IVT) for acute ischemic stroke. METHODS Eligible patients with ischemic stroke, who were devoid of contraindications, started IVT within 3 h or IAT as soon as possible within 6 h. Patients were randomized within 3 h of onset to receive either intravenous alteplase, in accordance with the current European labeling, or up to 0.9 mg/kg intra-arterial alteplase (maximum 90 mg), over 60 min into the thrombus, if necessary with mechanical clot disruption and/or retrieval. The purpose of the study was to determine the proportion of favorable outcome at 90 days. Safety endpoints included symptomatic intracranial hemorrhage (SICH), death and other serious adverse events. RESULTS 54 patients (25 IAT) were enrolled. Median time from stroke onset to start to treatment was 3 h 15 min for IAT and 2 h 35 min for IVT (p<0.001). Almost twice as many patients on IAT as those on IVT survived without residual disability (12/25 vs 8/29; OR 3.2; 95% CI 0.9 to 11.4; p=0.067). SICH occurred in 2/25 patients on IAT and in 4/29 on IVT (OR 0.5; CI 0.1 to 3.3; p=0.675). Mortality at day 7 was 5/25 (IAT) compared with 4/29 (IVT) (OR 1.6; CI 0.4 to 6.7; p=0.718). There was no significant difference in the rate of other serious adverse events. CONCLUSIONS Rapid initiation of IAT is a safe and feasible alternative to IVT in acute ischemic stroke.

Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers.

Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so-called "molar tooth sign" (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS-related disorder (JSRD). So far, five patients have been reported with this phenotype, only two of them being siblings. We report on one additional family, describing a living child with JS and PMG, and the corresponding neuropathological picture in the aborted brother. No mutations were detected in the AHI1 gene, the only so far associated with the JS + PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity.

Severe brain damage from twin-twin transfusion syndrome treated with serial amnioreductions after 26 weeks: a case to reconsider the gestational age limits of laser therapy.

We report a case of monochorionic twin pregnancy complicated by twin-twin transfusion syndrome (TTTS) diagnosed in the late second trimester and treated with two amnioreductions. Three days after the first amniodrainage, the recipient twin developed intracranial ventriculomegaly and, similarly, after a few days, the donor showed signs of brain damage at MRI. We discuss the possible mechanism of brain damage of amnioreductions performed after 26 weeks of gestation in a monochorionic pregnancy with TTTS as a result of a placental 'steal' phenomenon.

[Magnetic resonance myelography. Preliminary experience]. / Mielografia con Risonanza Magnetica. Esperienza preliminare.

Three-dimensional (3D) MR Myelography is a new technique using constructive interference steady-state (CISS) sequences, which are characterized by a symmetric flow compensation enhancing CSF signal intensity compared with neural and extradural structures. 3D myelographic projections with different rotation angles are obtained from the 3D dataset with a mathematical algorithm called maximum intensity projection (MIP). Myelographic projections yield a global view of subarachnoid spaces and of root sleeves with no intrathecal contrast agent injection. This study was aimed at assessing the feasibility, the clinical value and the diagnostic accuracy of 3D MR Myelography in comparison with conventional myelography. From September 1992 to January 1994, thirty-five myelograms were performed. The study population consisted of 10 volunteers, 8 patients with traumatic brachial plexus lesions, 7 with herniated disks (4 lumbar and 3 cervical disks), 4 with sacral radicular cysts, 2 with spinal vascular malformations, 3 with extramedullary intradural neoplasms (2 cervical neuromas and 1 cervical meningioma) and 1 with an intramedullary tumor (a conus medullaris ependymoma). All patients underwent SE MRI and conventional myelography (22 lumbar injections, 3 cervical injections of nonionic iodinated contrast agent) followed by CT (CT myelography). This trial demonstrates the feasibility of 3D MR myelography in the study of the cervical and lumbar spine: its results are comparable to those obtained with conventional myelography also in some specific indications like traumatic brachial plexus injuries, where invasive conventional myelography is usually thought to be essential.

Giant congenital nevus and chronic progressive ascending hemiparesis (Mills syndrome). Report of a case.

We describe the case of a 20 year old boy with a giant congenital nevus who developed a chronic progressive ascending hemiparesis. The association of the pigmented lesion with a focal neurological deficit is pathognomonic for neurocutaneous melanosis complicated by a leptomeningeal melanoma. MR imaging at 1.5 tesla ruled out such a possibility and showed a small aspecific pontine lesion along the route of the corticospinal tract. We discuss possible etiologies.

Comparison between computed tomography and magnetic resonance imaging in the postoperative evaluation of acromegalic patients.

Twelve acromegalic patients who underwent transphenoidal resection of a GH-secreting pituitary adenoma were evaluated postoperatively by Computed Tomography (CT) and Magnetic Resonance (MR). CT and MR findings were compared with surgical and clinical results. MR was more accurate than CT in delineating postoperative abnormalities of the infundibulum, diaphragma sellae and optic chiasm. In three cases MR differentiated packing materials from adenomatous tissue. In cases with biochemical evidence of residual or recurrent tumor, MR clearly demonstrated intra- or extrasellar adenomatous tissue and the spatial relationship between the soft tissue mass and the cavernous sinuses. CT was superior to MR only in demonstrating sellar floor disruption. MR imaging detected the anatomical causes of clinical abnormalities in almost all acromegalic patients with incomplete recovery after surgery. On the basis of MR results it is possible to plan additional surgery, radiation therapy or medical treatment. MR may be the radiological procedure of choice for both surgical treatment planning and postoperative follow-up.