Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies.

Our retrospective immunohistochemical study of normal quadriceps muscle biopsies shows that embryonic myosin heavy chains are down-regulated by, or soon after, birth. Fetal myosin heavy chains are down-regulated by 4-6 months. Thus the presence of an appreciable number of fibres with embryonic myosin heavy chains at birth or of fetal myosin heavy chains after 6 months of age suggests a delay in maturation or an underlying abnormality. Regenerating fibres in dystrophic muscle often co-express both embryonic and fetal myosin heavy chains but more fibres with fetal than embryonic myosin heavy chains can occur. Embryonic myosin heavy chains are a useful marker of regeneration but effects of denervation, stress, disuse, and fibre maintenance also have to be taken into account. In neurogenic disorders fibres with embryonic myosin heavy chains are rare but fetal myosin heavy chain expression is common, particularly in 5q spinal muscle atrophy. Nuclear clumps in denervated muscle show fetal and sometimes embryonic myosin heavy chains. Developmentally regulated myosins are useful for highlighting the perifascicular atrophy in juvenile dermatomyositis. Our studies highlight the importance of baseline data for embryonic and fetal myosin heavy chains in human muscle biopsies and the importance of assessing them in a spectrum of neuromuscular disorders.

Lumbar Canal Diameter Evaluation by CT Morphometry-Study of Indian Population.

STUDY DESIGN: A cross-sectional study. BACKGROUND: To document dimensions of the lumbar vertebrae and bony canal in an Indian population and to compare with other studies from the subcontinent as well as from other parts of world. METHODS: An observational study was conducted on the basis of a review of thin-cut (3 mm) computed tomographic images of lumbar vertebrae. A total of 302 patients were studied, and various dimensions were analyzed. RESULTS: In general, the vertebral and bony spinal canal dimensions were found to be greater in male patients. Comparison of populations revealed statistically significant differences in the spinal canal between an Indian population and others. OVERVIEW OF LITERATURE: Lumbar canal stenosis is a condition in which the anteroposterior and lateral dimensions of the bony spinal canal are less than normal for corresponding age and sex. Numerous studies have been conducted to determine morphometry of the lumbar vertebrae and spinal canal, mostly in western populations, using fresh cadaver or osteologic specimens. These studies did not mention the difference between the vertebral parameters in men and women. Moreover, many of these studies have limitations such as a small sample size and lack of demographic data including race, age, and sex. In this study, we have conducted morphometric analysis of the lumbar vertebrae in a relatively large number of Indian patients by using computed tomography scan. The morphometric data thus compiled may provide a baseline of body and canal dimensions that could guide clinical experts in their practice. CONCLUSIONS: The dimensions of the lumbar vertebrae and bony canal thus obtained shall provide a baseline normative data for evaluation of patients presenting with low backache and lumbar canal stenosis in an Indian population.

Spinal Stenosis in Familial Transthyretin Amyloidosis.

Here we describe a patient with genetically confirmed ATTR, a family history of the disease and histological confirmation following carpal tunnel release surgery but no other manifestations. The first major neurological or systemic manifestation was cauda equina syndrome with ATTR deposits contributing to lumbar spinal stenosis. Recent gene therapy trials showed improvement in the neuropathy in TTR amyloidosis. This case highlights the need for awareness of the heterogeneous neurological phenotype seen in ATTR to aid earlier diagnosis especially now that disease modifying therapies are available.

Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a treatable chronic disorder of the peripheral nervous system. We retrospectively studied 30 children with a suspected diagnosis of CIDP. The diagnosis of CIDP was compared against the childhood CIDP revised diagnostic criteria 2000. Of the 30 children, five did not meet the criteria and four others met the criteria but subsequently had alternative diagnosis, leaving a total of 21 children (12 male) with CIDP as the final diagnosis. Thirteen children presented with chronic symptom-onset (>8 weeks). The majority presented with gait difficulties or pain in legs (n = 16). 12 children (57%) met the neurophysiological criteria and 18/19 (94%) met the cerebrospinal fluid criteria. Nerve biopsy was suggestive in 3/9 (33%), with magnetic resonance imaging supportive in 9/20 (45%). Twenty-one children received immuno-modulatory treatment at first presentation, of which majority (n = 19, 90%) received IVIG (immunoglobulin) monotherapy with 13 (68%) showing a good response. 8 children received second line treatment with either IVIG or steroids or plasmapharesis (PE) and 4 needed other immune-modulatory agents. During a median follow-up of 3.6 years, 9 (43%) had a monophasic course and 12 (57%) had a relapsing-remitting course. At last paediatric follow up 7 (33%) were off all treatment, 9 (43%) left with no or minimal residual disability and 6 (28%) children were walking with assistance (n = 3) or were non-ambulant (n = 3). Our review highlights challenges in the diagnosis and management of paediatric CIDP. It also confirms that certain metabolic disorders may mimic CIDP.

Endovascular treatment of ruptured pica aneurysms and association with its extradural origin: A single-center experience.

BACKGROUND: Posterior inferior cerebellar artery (PICA) like other intracranial arteries is prone to aneurysm formation. Aneurysms usually arise from the vertebral artery (VA)-PICA junction and the proximal segment of the PICA. The surgical clipping of PICA aneurysms can be challenging and carries a potentially significant risk of morbidity and mortality. Experience with endovascular therapy has been limited to a few studies; however, the use of endovascular therapy as an alternative treatment to surgery has been increasing. We present our experience of last 5 years in treating the ruptured PICA aneurysms. MATERIALS AND METHODS: A total of 11 patients with PICA aneurysms, out of them 7 were at proximal PICA, 2 at the vertebral-PICA junction, and 1 each at mid and distal PICA, underwent endovascular treatment at our institution between 2011 and 2016. RESULTS: All the patients presented with an acute intracranial hemorrhage, confirmed on CT head. Most of the aneurysms were at proximal PICA (anterior and lateral medullary segments) with the partial incorporation of PICA origin in the sac. Low origin of PICA was seen in 7 (out of 11) cases, out of these cases, 5 had proximal PICA, aneurysm, and one (n = 1) had VA-PICA, junction aneurysm (1/7) and. one distal PICA aneurysm. There were seven proximal PICA aneurysms, and out of them, parent vessel occlusion was done in six and selective coiling in one (n = 1) case. From seven (n = 7) proximal PICA aneurysms, there were five cases of low origin and rests showed normal course and origin. Two (n = 2) junctional aneurysms were treated with simple coiling. Low origin was seen in right VA-PICA junction aneurysm. Endovascular treatment of all the 11 aneurysms was successful. The treatment consisted of selective aneurysm coiling in four (36.3%) patients and aneurysm with parent vessel trapping in seven patients (63.6%). Out of these seven patients, in one (n = 1) patient where aneurysm was distal PICA, glue embolization was done. There was no intra-procedural rupture/contrast extravasation or any thrombo-embolic complications. Follow-up studies ranged from 6 months to 5 years. CONCLUSION: Endovascular therapy of ruptured proximal PICA aneurysms is possible and safe with the use of adjuvant devices and should be considered as first-line treatment.

Role of MR spectroscopy in diagnosis of intracranial neuroenteric cyst.

INTRODUCTION: Neuroenteric cysts are rare benign endodermal lesions of the central nervous system that result from incomplete resorption of neuroenteric canal and mostly found in cervical and upper thoracic spinal canal. Intracranial neuroenteric cysts are extra axial and commonly located anteriorly in the posterior cranial fossa. MRI demonstrates variable intensity within the lesion on T1, T2W, and DWI sequences. METHODS: Three cases of posterior fossa non-enhancing cystic lesions of variable signal intensity underwent MRI with MR spectroscopy, where MR spectroscopy demonstrated dominant peak at 2 ppm, mimicking normal Nacetyl aspartate (NAA). CONCLUSION: MR spectroscopy in addition to conventional MRI may help in differentiating intracranial neuroenteric cyst from its close differentials.

Parental mosaicism in RYR1-related Central Core Disease.

Myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene are amongst the most common non-dystrophic neuromuscular disorders and have been associated with both dominant and recessive inheritance. Several cases with apparently de novo dominant inheritance have been reported. Here we report two siblings with features of Central Core Disease (CCD) born to unaffected parents. Genetic testing revealed a heterozygous dominant RYR1 c.14582G>A (p. Arg4861His) mutation previously identified in other CCD pedigrees. The variant was absent in blood from the asymptomatic mother but detected at low but variable levels in blood- and saliva-derived DNA from the unaffected father, suggesting that this mutation has arisen as a paternal post-zygotic de novo event. These findings suggest that parental mosaicism should be considered in RYR1-related myopathies, and may provide one possible explanation for the marked intergenerational variability seen in some RYR1 pedigrees.

Clinical significance of magnetic resonance imaging findings in chronic low backache.

BACKGROUND & OBJECTIVES: Magnetic resonance imaging (MRI) is frequently done for the evaluation of chronic low backache (CLBA), however, its significance in Indian patients has not been evaluated. We report here the MRI findings in patients with CLBA and their sensitivity and specificity with clinical evidence of radiculopathy and localized CLBA as well as correlate these with pain severity and disability. METHODS: Seventy two patients with CLBA aged 20-70 yr without trauma, infection, tumour, metastasis and vascular malformation were included in the study. Their demographic characteristics, lifestyle, education and employment were noted. Lumbosacral MRI was carried out and 19 MRI parameters at six levels (D12-L1-L5-S1) were noted. The severity of pain was assessed by Numeric Rating Scale (NRS, 0-10) and disability by Oswestry Disability Index (ODI). RESULTS: MRI was abnormal in all patients, the most common being disc desiccation (90.3%) followed by facet joint arthropathy (FJA; 75%) and nerve root compression (NRC; 72.2%). Endplate changes and high-intensity zone were noted in 58 and 50 per cent of patients, respectively. One-third patients with FJA, however, were below 30 yr of age. NRC on MRI had 61.3 per cent sensitivity and 10 per cent specificity with clinical radiculopathy. FJA had 60.7 per cent sensitivity and 15.9 per cent specificity with localized CLBA. None of the MRI parameters and MRI sum score correlated with NRS and ODI. On multivariate analysis, NRS was independent predictor of ODI (odds ratio 0.58, 95% confidence interval 0.35-0.98, P=0.04). INTERPRETATION & CONCLUSIONS: In patients with CLBA, NRC on MRI showed poor specificity with corresponding clinical radiculopathy and FJA with localized backache. None of the MRI abnormality correlated with the severity of pain or disability.

Anterior spinal artery aneurysm in aortic stenosis of different etiology: Report of three cases.

Isolated aneurysms of spinal arteries are rare. Spinal artery aneurysms are commonly found in association with spinal cord arteriovenous malformation and coarctation of aorta and rarely with aortic arch interruption and Klippel-Trenaunay syndrome. Spinal angiograms are the gold standard for diagnosing these spinal artery aneurysms but with the advances in computed tomography technology these aneurysms can also be very well demonstrated in computed tomography angiograms. We describe three cases of anterior spinal artery aneurysm, those are flow related aneurysms, associated with coarctation of aorta and with Takayasu arteritis.

A case report of rim enhancing lesion at the orbital apex.

We report a case of partial third nerve palsy resulting from a cystic lesion located at the orbital apex. Imaging was suggestive of cystic schwanomma but histopathology of the lesion confirmed epidermoid cyst, which is a rare tumour of the orbit.

Leptomeningeal Angiomatosis in a Case of Neurofibromatosis Type 2: An Unusual Finding.

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by multiple neoplasms of the central and peripheral nervous system associated with ocular abnormalities. Leptomeningeal angiomatosis has not been described with this tumour predisposition syndrome. This report documents an unusual association of leptomeningeal angiomatosis in a case of NF2.

Inferior petrosal sinus route microcatheterization study and embolization for primary orbital varix.

PURPOSE: Primary orbital varix is a rare lesion but difficult to treat. Our main aim was to demonstrate the varices and their central venous communication and to explore the feasibility of embolization of these lesions. METHOD: In four patients with clinical suspicion of varix, in whom MRI showed retro-global vascular channels, microcatheter digital subtraction angiography (DSA) of the varices was performed using femoral venous access. Embolization was carried out in two patients. RESULTS: In all four patients orbital varices could be accessed with a microcatheter through inferior petrosal sinus and ophthalmic vein (superior or inferior) route. Microcatheter angiography showed opacification of varices and demonstrated their central venous communication. Two patients were treated with coil embolization. Complete resolution of symptoms was seen in one patient and partial relief in the other. CONCLUSION: The study presents microcatheterization of orbital varices via the inferior petrosal sinus-cavernous sinus-ophthalmic vein route with injections into distal ophthalmic veins for demonstration of these variceal sacs and their central venous connection. Coiling to disconnect the venous communication should be the primary goal of embolization.

Intradiploic leptomeningeal cyst in an adult: role of percutaneous contrast injection in dural defect demonstration.

Leptomeningeal cysts are commonly seen in children usually following trauma and associated with bulging leptomeninges at the site of fracture. Intradiploic leptomeningeal cyst is an important differential for an expansile lytic lesion in the bony calvarium especially in a patient with a previous history of trauma. Here we present a case of intradiploic leptomeningeal cyst and describe the usefulness of retrograde cisternogram by CT-guided direct percutaneous cyst puncture where a CT cisternogram after intrathecal contrast injection could not demonstrate the dural defect and communication of the subarachnoid space with the intradiploic leptomeningeal cyst.

Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy.

We report a rare case of myofasciitis and meningitis with deafness caused by systemic enterovirus infection in the setting of hypogammaglobulinaemia induced by rituximab. Whilst effective and generally safe, anti- CD 20 antibody therapy is increasingly recognised to result in unusual infectious complications to be considered in a treated patient presenting with neurological symptoms. These cases may pose diagnostic difficulties and can have atypical presentations. We present this rare complication of rituximab therapy, with histopathological confirmation of myofasciitis. In the older literature, enterovirus associated myofasciitis may have erroneously been termed dermatomyositis and we review the literature to demonstrate this important nosological point.

Beware of parotitis induced by iodine-containing contrast media.

Carotid stenting is being increasingly used for revascularization of the moderate to severe carotid stenosis and thus its complications are increasingly being recognized. We report a rare complication of induced by iodine contrast in a patient undergoing carotid stenting. s. A 51 year old man after the second stenting developed multiple small infarcts in spite of the distal device. He also had painful parotid swelling which improved within a week. One should be aware of iodine parotitis s in the patients undergoing iodinated contrast study.