MR imaging findings in autosomal recessive hereditary spastic paraplegia.

BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a disorder characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord. Previously described radiologic findings included nonspecific brain abnormalities such as brain atrophy and white matter lesions, as well as atrophy of the spinal cord. In our study, we aimed to better characterize brain and spine MR imaging findings in a series of patients with HSP. MATERIALS AND METHODS: Nine patients from 4 different Lebanese families with the autosomal recessive form of HSP were included in the study. All patients underwent brain and whole-spine MR imaging. We assessed the presence of white matter abnormalities mainly along the corticospinal tracts, brain atrophy, thinning of the corpus callosum, and the presence of spinal cord atrophy or abnormal signal intensity. RESULTS: Imaging revealed mild brain atrophy (44%), atrophy of the corpus callosum (55%), white matter lesions (67%), abnormal T2 high signal intensity in the posterior limb of the internal capsule (55%), and mild spinal cord atrophy (33%). CONCLUSIONS: The MR imaging findings of HSP are nonspecific and variable; however, the most prominent features include atrophy of the corpus callosum, T2 signal intensity in the posterior limb of the internal capsule, and spinal cord atrophy.

Cerebral sinus thrombosis in a patient with humoral immunodeficiency on intravenous immunoglobulin therapy: a case report.

We present the case of an 11-year-old boy with humoral immunodeficiency on monthly intravenous immunoglobulins (IVIG) infusions, evaluated for recurrent, brief, neurological deficits secondary to cerebral sinus thrombosis without any identifiable hypercoagulability state. Etiologic possibilities for the thrombotic event are presented with special discussion of IVIG-related cerebral thrombosis. To the best of our knowledge, our patient represents the first reported case of Bruton's disease on IVIG therapy developing a cerebral ischemic event and the second reported case of cerebral sinus thrombosis associated with IVIG use for any disease. Potential concerns regarding the risk of cerebral thrombosis during IVIG therapy in this and other disorders are reviewed.

Clinical characteristics of multiple sclerosis in Lebanon.

The epidemiologic, clinical, radiological and laboratory characterization of multiple sclerosis (MS) is very well documented in Caucasian and Japanese populations, but very little is known about MS in the Arab world. Such knowledge is becoming of paramount importance, with the recent advances in therapies, MRI techniques and other diagnostic procedures. We report a cohort of Lebanese MS patients, including details of their clinical and laboratory characteristics. The medical records of 202 patients fulfilling the Mc Donald's diagnostic criteria, and followed in our tertiary care center were reviewed. This cohort is highly representative of the disease in Lebanon where the number of MS patients is estimated to be between 1200 and 1700. The peak age of onset of MS in our cohort was in the third decade with 62.4% of patients developing their first symptoms between 20 and 39 years. The female/male ratio was 1.8/1.0. A positive family history for MS was present in 5% of patients. The most frequent presenting symptoms were brainstem-cerebellar (46.2%) followed by sensory (42.5%), motor (33.9%) and visual (29.6%). Of the total number of patients, 85.1% had relapsing remitting MS at onset, and 7.9% primary progressive MS. Benign MS defined as EDSS<=2.0 after 10 years from onset was present in 20% of patients. The mean time from onset to secondary progressive MS was around 9 years. Visual, brainstem, and somatosensory evoked potentials were abnormal in 65.6%, 27.8%, and 50.7% of patients tested respectively. Cerebrospinal fluid showed pleocytosis in 32.6%, increased IgG synthesis in 45.2%, positive oligoclonal bands in 40%, and elevated protein in 34% of patients tested. Although some of the clinical characteristics of our MS population were different compared to western series, the natural history of the disease was similar.

Successful treatment of refractory neuroSjogren with Rituximab.

We report a 47-year-old female with Sjogren's syndrome (SS) and severe weakness in her lower extremities refractory to cyclophosphamide therapy, who was treated with the monoclonal anti CD-20 antibody rituximab at a weekly dose of 375 mg/m2 for four consecutive weeks. Patient responded within few days of the first dose and her motor power in the lower extremities started to improve gradually along with progressive resolution of the paresthesias and dysesthesias. The improvement was sustained and progressive and eight months after the last dose, she was able to walk for 60 meters without aid or rest. Rituximab may be considered as an effective and promising novel therapy in SS patients with neurological involvement.

Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes.

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder consisting of external ophthalmoplegia, retinitis pigmentosa, ataxia and heart block. Magnetic resonance imaging (MRI) shows abnormal T2 high signal intensity in the deep gray matter nuclei, the cerebellar and the subcortical white matter. We report an unusual MR pattern of KSS, where the T2 images revealed radially oriented, hypointense stripes in hyperintense white matter, a characteristic MRI pattern of lysosomal disease not previously reported in KSS.