Hyaline body myopathy (HBM) is a rare chronic nonprogressive congenital myopathy, with variable patterns of inheritance.

We describe a patient with congenital HBM with progression of weakness and increasing muscle pain in adulthood. Three muscle biopsies, done at various times in her life, are reported.

Symptoms started during childhood; however, as an adult, following a period of stability with no progression of the disease, the patient became symptomatic with worsening proximal limb weakness, severe aching pain and hypertrophy of calves. Moderate elevations of serum creatine kinase and myopathic features were noted on electrophysiologic testing. Muscle pathology showed significant fatty infiltration of skeletal muscle and increased number of fibers with internal nuclei. Histology demonstrated the presence of subsarcolemmal, well-delineated hyaline areas, which on histochemical studies was shown to be limited to type1 fibers. The hyaline bodies were dark with pH 4.2 ATPase and with immunohistochemical studies reacted only with myosin heavy chain slow. Electron microscopy showed the hyaline bodies to be composed of nonmembrane bound, fairly even sized granular material, which merged with the adjacent myofibrils. Earlier muscle biopsies, done during childhood, also revealed presence of similar subsarcolemmal hyaline deposits.

There appears to be a pattern of presentation with adulthood progression in HBM, which has not been described before. Further case studies are required to understand the clinical progression in HBM.

We report a case of selective loss of emotional facial movements which resulted from bilateral acute infarcts. No etiology was discovered, and the syndrome was reversible.

The available literature, and findings in this case, suggest that voluntary and automatic facial movements have distinct pathways, and damage to the insula bilaterally may lead to the selective loss of emotional facial movements. The clinical presentation of this inverse automatic/voluntary dissocation needs to be recognized as a rare syndrome with bilateral localization, so that patients at higher risk of further stroke can quickly be identified.

Interferon β has become standard therapy for reducing relapse frequency in relapsing/remitting Multiple Sclerosis (RRMS). Several different preparations are available including interferon β1a (Avonex, Rebif) and interferon β1b (Betaferon/Betaseron). For the most part these preparations have been considered safe. Recently there have been concerns relating to liver1 and now kidney toxicity.

We present a case of a 28-yr old male who developed a severe case of nephrotic syndrome while being treated for relapsing/remitting Multiple Sclerosis (RRMS) with weekly injections of interferon β1a.

The nephrosis resolved almost completely once the interferon was stopped and after immunosuppressive treatment. At its peak the daily protein loss was 35.82 g. Kidney biopsy demonstrated membranous glomerulonephritis.

Two other case reports of nephrotic syndrome have been reported in the literature. This latest (third) report suggests that the safety profile should be reexamined and at least raises the question of potential renal toxicity of interferons in MS.

Cervical internal carotid artery (ICA) occlusion associated with middle cerebral artery (MCA) embolic occlusion requires prompt revascularization to prevent devastating stroke. With the advent of endovascular techniques for chemical and mechanical thrombolysis, the clinical outcome of patients with major arterial occlusions will improve. Finding the most expedient pathway to the site of end organ occlusion for thrombolysis is important.

We present two cases of acute stroke secondary to thrombotic occlusion of the cervical ICA associated with MCA embolic occlusion treated with intra-arterial thrombolysis via catheter navigation through the posterior communicating artery to the site of MCA arterial occlusion. No attempt was made to transverse the occluded ICA.

Near complete restoration of flow was achieved in one patient and minimal vessel reopening was observed in the other patient. Both patients had good outcomes.

Intraarterial thrombolysis via Circle of Willis collaterals such as the posterior communicating artery for the treatment of acute thrombotic occlusion of the cervical internal carotid artery associated with embolic occlusion of the middle cerebral artery is a therapeutic option. This treatment option avoids the potential complications of navigating through an occluded proximal internal carotid artery and may expedite reopening of the MCA.

This study was designed to determine the prevalence of rhythmic coma patterns in comatose children and to ascertain the prognostic significance of reactive rhythmic coma patterns.

We retrospectively analyzed and classified electroencephalogram (EEGs) in comatose children between two months and 18 years of age during the period 1996 - 2003 according to modified Young's classification. Outcome at one-year was scored according to the Paediatric Cerebral and Overall Performance Category Scale. Outcomes were compared using Fisher's exact test and Mann-Whitney test.

Analysis of 63 electroencephalogram (EEG) records in 38 patients showed rhythmic patterns in 19 records (30.2%; 9 alpha, 4 spindle, 4 theta and 2 beta coma patterns, total number of children = 14). Aetiology and outcome of alpha coma patterns and other rhythmic coma patterns were similar. In five children, one type of rhythmic pattern changed to another. Records with reactive rhythmic coma 66.7% (6/9), were associated with favourable outcome. Sixty percent of the records (6/10 records in seven children) with non-reactive pattern were associated with unfavourable outcome. This clinically significant difference did not reach statistical significance (lower Paediatric Cerebral and Overall Performance Category Scale score p= 0.14; favourable outcome p=0.19).

Rhythmic coma patterns in comatose children are not uncommon. Aetiology, reactivity and outcome of individual patterns are similar and thus make the rhythmic coma patterns distinct EEG signatures in comatose children. There was a clinically significant better outcome with reactive rhythmic coma patterns.

Increased growth of meningiomas during pregnancy as well as postpartum clinical regression of symptoms have been reported but remain poorly understood. A better understanding of the factors that contribute to these observations, including potential factors associated with pregnancy, could enable design of more effective adjuvant therapies.

We describe the presentation of a meningioma during the immediate postpartum period. Serial imaging demonstrated subsequent rapid decrease in size of the tumour prior to any intervention. The lesion was resected, and the tissue was subjected to immunostaining for gene products associated with pregnancy, including estrogen receptor (ER), progesterone receptor (PR), platelet-derived growth factor receptor B (PDGFRB), fibroblastic growth factor receptor 2 (FGFR-2), epidermal growth factor receptor (EGFR) and human placental lactogen (hPL).

The lesion proved to be an atypical fibroblastic meningioma grade II (WHO). Immunostaining demonstrated significant staining for PR, PDGFRB, and FGFR-2. No specific staining for ER, EGFR, or hPL was identified.

Although clinical regression of meningioma following pregnancy is well-recognized, imaging data are much less abundant. This report provides clear clinical and imaging documentation of a meningioma associated with pregnancy. In addition, the growth factor profile of this tumour suggests the importance of PR, PDGFRB, and FGFR-2 as potential therapeutic targets.

X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy is the second most frequent phenotype (25-46%) of this disease and classically presents in adulthood with spastic paraparesis. Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis.

We report a novel missense mutation in the ABCD1 gene in a 47-year-old French-Canadian female with spastic paraparesis and no confirmed family history of X-linked adrenoleukodystrophy. The mutation is located on exon 1 and causes the amino acid substitution of a valine for an alanine in a region of the protein highly conserved between mouse and man.

Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. This is an initial report of an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future.

Complementary and alternative medicine (CAM) is increasingly used in adults and children. Studies on CAM in neurological disorders have focused on the adult population and its use among pediatric neurology patients has not been well characterized.

The purpose of this study was: 1) To characterize the prevalence of CAM in pediatric neurology patients; 2) To determine the perceived effectiveness of CAM in these children; 3) To compare the cost of CAM with conventional therapies; and 4) To describe caregiver or patient-related variables associated with the use of CAM.

This was a cross-sectional survey of patients and families attending the Alberta Children's Hospital neurology clinic between February and May 2004. Patients were considered eligible if they were between two and 18 years of age and had a known history of neurological disorders. Caregivers completed several self-administered questionnaires regarding their socio-demographic profile, their child's neurological illness, and their experience with CAM. Caregivers also rated their child's quality of life using the Pediatric Quality of Life Inventory.

One hundred and five of 228 (46%) families completed the survey. The mean age of the neurology patients was 9.8 ± 4.5 years. Forty-six (44%) out of 105 patients received one or more types of CAM, with the most common types being chiropractic manipulations (15%), dietary therapy (12%), herbal remedies (8%), homeopathy (8%), and prayer/faith healing (8%). Caregivers' sociodemographic variables or pediatric health-related quality of life were not significantly associated with the use of CAM. Fifty-nine percent of CAM users reported benefits, and only one patient experienced side effects. There was no significant difference in the total median cost of CAM compared to conventional therapies ($31.70 vs. $50.00 per month). Caregivers' personal experience or success stories from friends and media were common reasons for trying CAM.

The use of CAM was common among pediatric neurology patients. Over half of the families reported benefits with CAM, and side effects were perceived to be few. Physicians should initiate discussion on CAM during clinic visits so that the families and patients can make informed decisions about using CAM. Further studies should address the specific role of CAM in children with neurological disorders, and to determine the potential interactions between CAM and conventional therapies in these patients.

To study the effects of cannabinoid, glutamate, and dopamine agonists and antagonists on the calcium current in rat sympathetic neurons.

Calcium current was recorded using the whole-cell variant of the patch-clamp technique. After expression in neuronal membranes of the cannabinoid CB1, glutamate mGluR2, or dopamine D1 receptor (by microinjection of the relevant receptor's cDNA into the neuron's nucleus) agonists' and antagonists' effects were observed.

Applications of agonists of the expressed receptor (0.1-10 µM) decreased the calcium current. The calcium current was increased after application of cannabinoid antagonists (AM251 and AM630); these compounds thus act as inverse agonists in this preparation. Glutamate and dopamine antagonists had no effects on the calcium current by themselves. Combined application of cannabinoids and dopamine, but not glutamate, agonists produced a decrement in the calcium current that was bigger than either of the effects seen when one agonist was applied alone.

These results suggest that cannabinoid with dopamine receptors have an interactive inhibitory effect on the calcium current in this preparation, indicating that within the nervous system, receptor interactions may be important in the regulation of ion-channel functions.

To investigate prognostic indicators in an aggressive Crooke's cell adenoma of the pituitary.

The surgically removed tumor was studied by histology, immunohistochemistry and transmission electron microscopy.

An aggressive invasive sellar tumor removed by repeated surgeries from a 43-year-old woman with pituitary related Cushing's disease was classified as a Crooke's cell adenoma of the pituitary. The application of several cell proliferation markers confirmed the aggressive nature of the tumor.

The investigation of the present case provides additional evidence that pituitary Crooke's cell adenomas may possess aggressive behavior.