Bilateral Symmetrical Involvement Research Articles

L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt

ABSTRACT L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with abnormal white matter. We present two siblings with psychomotor retardation and quadriparesis. Their brain imaging showed diffuse bilateral symmetrical involvement of the cerebral cortex, white matter, basal ganglia and cerebellum. The whole exome sequence studies revealed a homozygous likely pathogenic variant on chromosome 14q22.1 (NM_024884.2: c.178G > A; pGly60Arg) in the gene encoding for L-2-hydroxyglutarate dehydrogenase (L2HGDH) (OMIM #236792). Therefore, using the L2HGDH gene study is beneficial for L2HGA diagnosis.

To study magnetic resonance imaging findings and inflammatory markers in inflammatory sacroiliitis

Objectives: The objectives of the study are to determine magnetic resonance imaging (MRI) findings in inflammatory sacroiliitis and assign scores and grades to it and to determine and correlate erythrocyte sedimentation rate, C-reactive protein (CRP), and human leukocyte antigen-B27 (HLA-B27) in various grades of sacroiliitis. Material and Methods: An observational cross-sectional study was conducted on 30 patients who clinically presented with features of sacroiliitis and underwent an MRI of sacroiliac joint (SIJ). Various inflammatory and structural findings on MRI were used to do Spondyloarthritis Research Consortium of Canada scoring and grading. Then inflammatory markers including erythrocyte sedimentation rate, CRP, and HLA-B27 were studied in various grades of sacroiliitis. Results: Inflammatory sacroiliitis affects commonly the age group of 21–40 years. Periarticular edema was the most common finding seen with the iliac aspect more commonly involved. The majority of the subjects were graded moderate (50%). Values of erythrocyte sedimentation rate and CRP levels were raised whereas HLA-B27 was positive in 9 patients (30%) of inflammatory sacroiliitis. Conclusion: Inflammatory sacroiliitis presents with a chief complaint of low back ache. MRI helps to grade it into mild, moderate, and severe. STIR is the most sensitive sequence for the detection of bone marrow edema with bilateral symmetrical involvement but the iliac bone of SIJ is more involved than the sacral side. Contrast-enhanced sequences and diffusion images add no significant statistical role in the diagnosis of bone marrow edema. Inflammatory laboratory parameters were increased in higher grades of sacroiliitis. HLA-B27, although not specific to inflammatory sacroiliitis, increases in higher grades of sacroiliitis.

Anti N-Methyl-D-Aspartate receptor antibody associated Acute Demyelinating Encephalomyelitis in a patient with COVID-19: a case report

BackgroundAnti N-Methyl-D-Aspartate (NMDA) receptor antibody associated ADEM is a diagnosis that was first described relatively recently in 2007 by Dalmau et al. The recent COVID-19 pandemic has resulted in multiple neurological complications being reported. However, there is limited data on Anti-NMDA receptor antibody associated ADEM in COVID-19 patients. Furthermore, the MRI findings in these patients have not been fully elucidated. This case report adds to the growing body of knowledge of neurological complications in COVID-19 patients.Case presentationA 50 year old Caucasian female with no previous medical co-morbidities presented with symptoms of COVID-19 and subsequently developed neurological symptoms which included confusion, limb weakness and seizures. The patient developed marked behavioural abnormalities which required attention. She was found to have anti NMDA receptor antibodies present in a significant titres, an elevated total protein on lumbar puncture and cytotoxic magnetic resonance imaging (MRI) changes in the brain and spinal cord and was subsequently diagnosed with an anti-NMDA Receptor Antibody associated ADEM. The bilateral symmetric involvement of the corticospinal tract on MRI was considered unusual in our case. She was treated with a combination of corticosteroids and plasmapheresis which halted disease progression. Thereafter she was commenced on intravenous immunoglobulin as maintenance therapy and she has shown continuous improvement with ongoing physiotherapy.ConclusionThe recognition of COVID 19 neurological complications may be difficult in the initial disease as early symptoms of lethargy, weakness and confusion may be very nondescript. However, it is imperative that these complications are sought for as they are imminently treatable. Early institution of therapy is imperative in decreasing long term neurological consequences.

Effect of Sodhananga Achasnehapana Followed by Virechana in the Management of Rheumatoid Arthritis: A Case Report

Rheumatoid arthritis is a chronic, progressive autoimmune arthropathy and characterized by bilateral symmetrical involvement of joints with some systemic clinical features. Treatment in allopathic medicine involves NSAIDS and steroids, which carry their own collateral burden of side effects in long term use. According to clinical features, described in Ayurveda, Vatarakta closely resembles with Rheumatoid arthritis. The study is done to find the effect of Sodhananga Achasnehapana with Guggutiktaka ghritha followed by Virechana with Nimbamrita eranda taila in Rheumatoid Arthritis. Methods: It is a simple random single case study done at Government Ayurveda College Panchakarma Hospital, Poojappura, Thiruvananthapuram. Here a case of Vatarakta (Vatakapahadikam) was treated with Sodhananga Achasnehapana with Guggutiktaka ghritha followed by Virechana with Nimbamrita eranda taila after Rukshana karma. Results: The treatment was effective in reducing the ESR, RA factor and CRP levels of the patient diagnosed with Rheumatoid arthritis. Conclusion: The case report shows that Ayurvedic treatment is potent and effective in the management of Rheumatoid arthritis. There was no adverse effect found in the treatment. Hence it can be concluded that RA can be effectively and safely treated by using the Chikitsa siddhanta mentioned in Ayurveda

Clinico-epidemiological evaluation of chronic folliculitis of leg- A single study from southern India

This study was conducted to determine the clinico-epidemiological evaluation of chronic folliculitis of the leg in the southern Indian population. This was a prospective observational study, undertaken over a period of two years. All patients attending the outpatient department Southern Indian tertiary care hospital's Dermatology Department (M.K.C.G.Medical College & Hospital, Odisha) were recruited. A total of 100 patients were enrolled, aged between 12 to 70 years with a M: F ratio of 10.1: 1. Eighty per cent of the population in the study were rural, and 20% belonged to the urban area. Clinical characteristics and demographic data of the patients were collected in a pre-designed proforma. Those patients who had pustules on the leg underwent pus culture and sensitivity test. Majority of the patients presented with papules and pustules (96%cases) and bilateral symmetrical leg involvement (98% cases). Pruritus was the most common clinical presentation ( 90% cases). Staphylococcus was isolated in the majority of cases (80%) and was sensitive to Amikacin (73%), Linezolid (70%), vancomycin (68%), and Gentamycin (65%). Chronic folliculitis of the leg is mainly a disease of young adult males of low socioeconomic status. Avoiding aggravating factors and cautious use of sensitive antibiotics may achieve treatment goals and decrease recurrence.

Solitary Radiolucent Erdheim-chester Disease: A Case Report and Literature Review

Background: Erdheim-chester disease (ECD) is a rare non-Langerhans histiocytosis of unknown etiology, which typically presents with bilateral symmetric osteosclerosis and multi-organ involvement. Lesions may be intraosseous or extraosseous and involve the heart, pulmonary system, CNS, and skin in order of decreasing likelihood. Objective: The objective of this study is to discuss a case of erdheim-chester disease and conduct a review of the literature. Case: We describe a rare case of erdheim-chester in an asymptomatic 37-year-old male who was diagnosed after suffering a right ulnar injury. Subsequent evaluation revealed a solitary radiolucent ulnar lesion without multi-system involvement. Results & Conclusion: The case is unique in its solitary distribution, lytic radiographic appearance, and asymptomatic presentation preceding pathologic fracture. This presentation may simulate multiple other bone lesions.

Bilateral symmetrical deep gray matter involvement and leptomeningeal enhancement in a child with MOG-IgG-associated encephalomyelitis

BackgroundCurrently, myelin oligodendrocyte glycoprotein (MOG)-IgG-associated encephalomyelitis (MOG-EM) is regarded as an independent inflammatory demyelinating disease. Magnetic resonance imaging (MRI) abnormalities occur in 44.4% of patients with MOG-EM. However, symmetrical deep gray matter involvement with leptomeningeal enhancement is rarely described in the literature.Case presentationA 3-year-old boy was admitted to our hospital because of acute onset fever, headache, vomiting and disturbance of consciousness. Neurological examination showed somnolence, neck stiffness and positive Kernig’s sign. Brain MRI demonstrated bilateral symmetrical lesions in the basal ganglia and thalamus as well as diffuse leptomeningeal enhancement along the sulci of bilateral hemisphere. Cerebrospinal fluid analysis demonstrated increased cell count (7 cells/mm3, mononuclear cells dominant) and protein (1.17 g/L) without glucose and chloride abnormality. Work-up for infectious and autoimmune causes, serum MOG IgG was positive by cell based assay. Therefore, a diagnosis of MOG-EM was established according to the international recommendatory criteria in 2018. He was administrated with intravenous methylprednisolone followed by oral corticosteroids and had recovered completely within 1 week.ConclusionsIn the setting of meningoencephalitis-like clinical presentation with bilateral symmetrical deep gray matter involvement, MOG-EM should be distinguished from other infectious and autoimmune disorders, such as Epstein-Barr virus (EBV) encephalitis, Japanese encephalitis and Anti-NMDA receptor (NMDAR) encephalitis. Besides, aseptic meningitis associated with leptomeningeal enhancement may be an atypical phenotype of MOG-EM.

Encephalopathy following ingestion of Lead-contaminated opium; magnetic resonance imaging findings

BackgroundEncephalopathy is an uncommon but serious presentation of lead toxicity.ObjectiveWe aimed to determine and follow-up the brain magnetic resonance imaging (MRI) abnormalities in the patients with lead encephalopathy due to ingestion of lead contaminated opium.MethodsIn a cross-sectional study during lead-contaminated opium outbreak, all lead-poisoned patients with any signs/symptoms of encephalopathy were included.ResultsOf 19 patients with lead encephalopathy, five died early and other five could not be sent to MRI during their hospitalization period. Mean age was 51 ± 11 years and males were dominant (89%). Median [IQR] blood lead level (BLL) was 101 [81, 108] μg/dL (range; 50 to 200 μg/dL). There was no correlation between MRI findings and signs/symptoms. MRI was normal in six and abnormal in three. Bilateral symmetric involvement of parieto-occipital lobes was observed. Gray matter, gray-white matter junction, and subcortical white matter were also affected. Follow-up MRI was performed in two with abnormal MRI which showed complete and near complete resolution of the abnormalities after cessation of opium use and treatment. Conclusion: There was no correlation between MRI findings and BLL. Complete recovery of brain MRI lesions was detected after cessation of opium use.

Posterior Reversible Encephalopathy Syndrome – A Rare Complication after Methylprednisolone

Posterior reversible encephalopathy syndrome (PRES) is a rare neurological complication. It can occur as a complication of hypertensive disease of pregnancy, autoimmune disorder or after immunosuppressant. Typical imaging features of PRES are bilateral symmetrical involvement of parietal and occipital lobe. Here, we reported a case of PRES after methylprednisolone.
 Bangladesh J Medicine Jan 2020; 31(1) : 41-42

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

BackgroundMaternally inherited complex I deficiencies due to mutations in MT-ND genes represent a heterogeneous group of multisystem mitochondrial disorders (MD) with a unfavourable prognosis. The aim of the study was to characterize the impact of the mutations in MT-ND genes, including the novel m.13091 T > C variant, on the course of the disease, and to analyse the activities of respiratory chain complexes, the amount of protein subunits, and the mitochondrial energy-generating system (MEGS) in available muscle biopsies and cultivated fibroblasts.MethodsThe respiratory chain complex activities were measured by spectrophotometry, MEGS were analysed using radiolabelled substrates, and protein amount by SDS-PAGE or BN-PAGE in muscle or fibroblasts.ResultsIn our cohort of 106 unrelated families carrying different mtDNA mutations, we found heteroplasmic mutations in the genes MT-ND1, MT-ND3, and MT-ND5, including the novel variant m.13091 T > C, in 13 patients with MD from 12 families. First symptoms developed between early childhood and adolescence and progressed to multisystem disease with a phenotype of Leigh or MELAS syndromes. MRI revealed bilateral symmetrical involvement of deep grey matter typical of Leigh syndrome in 6 children, cortical/white matter stroke-like lesions suggesting MELAS syndrome in 3 patients, and a combination of cortico-subcortical lesions and grey matter involvement in 4 patients. MEGS indicated mitochondrial disturbances in all available muscle samples, as well as a significantly decreased oxidation of [1-14C] pyruvate in fibroblasts. Spectrophotometric analyses revealed a low activity of complex I and/or complex I + III in all muscle samples except one, but the activities in fibroblasts were mostly normal. No correlation was found between complex I activities and mtDNA mutation load, but higher levels of heteroplasmy were generally found in more severely affected patients.ConclusionsMaternally inherited complex I deficiencies were found in 11% of families with mitochondrial diseases in our region. Six patients manifested with Leigh, three with MELAS. The remaining four patients presented with an overlap between these two syndromes. MEGS, especially the oxidation of [1-14C] pyruvate in fibroblasts might serve as a sensitive indicator of functional impairment due to MT-ND mutations. Early onset of the disease and higher level of mtDNA heteroplasmy were associated with a worse prognosis.

Wyburn Mason Syndrome: Novel presentation with Bilateral Retinal Arteriovenous malformation

A five-year-old girl with poor vision on examination and left eye esotropia was found to have bilateral intraorbital and unilateral intracranial arteriovenous malformation (AVM) and unilateral optic neuropathy. Magnetic Resonance Imaging with contrast revealed a small AVM involving the left ophthalmic artery and a large AVM involving the junction of anterior cerebral artery and anterior communicating artery. The simultaneous presence of retinal and intracranial AVM constitutes the Wyburn- Mason Syndrome (Retinoencephaloangiomatosis). Wyburn mason syndrome is associated with unilateral retinal racemose hemangioma with few cases with bilateral symmetrical involvement been reported in the literature. The present case has asymmetric bilateral retinal AVM and optic neuropathy, rare presentation of rare disease.

Myelopathy due to bilateral symmetrical dumbbell cervical ganglioneuroma in a pediatric neurofibromatosis type 1 patient and rigid posterior instrumentation\u2014a case report

BackgroundAlthough neurofibromatosis type 1 (NF1) is a common genetical disorder, symptoms due to neural involvement are rare among infants and children. Ganglioneuromas are slow-growing tumors and can be seen in patients with NF1. However, bilateral symmetrical involvement is very rarely reported in the literature. We present a rare pediatric case with NF1 who presented with upper cervical bilateral symmetrical ganglioneuroma.Case presentationA 7-year-old male presented with progressive gait disturbance, falls, and bilateral limb and trunk numbness that started several weeks ago. Physical examination revealed generalized café au lait spots, neurofibromas, and axillary and inguinal freckling. Family history for NF1 was positive. Neurological examination showed slight paraparesis and hypoesthesia of the upper extremities with C4–C5 dermatomas being more distinct. Cervical magnetic resonance imaging (MRI) revealed contrast enhancing dumbbell-shaped symmetrical lesions originating from both C3 nerve roots extending to C2–C5 vertebral body levels. There was a significant spinal cord compression causing myelopathy as well as dystrophic changes and kyphotic deformity at those levels. The patient was operated and the lesions were totally excised via C2–3–4 laminoplasty. Histopathological evaluation reported the lesion as ganglioneuroma. Following the surgery for excision of the lesions, the patient presented with rapidly progressing kyphotic deformity and underwent rigid craniocervical fusion.ConclusionGanglioneuromas are seen among children, tend to occur in the mediastinum, abdomen, and retroperitoneal area, and may accompany NF1. Cervical spinal ganglioneuroma, however, is a very rare entity. Co-existence of NF1 and bilateral symmetrical cervical ganglioneuroma is highly unusual. Like neurofibromas, ganglioneuromas are slow-growing tumors and therefore they are not expected to cause myelopathy and related symptoms during childhood. Symmetrical nature of the lesions results in myelopathy and early onset of symptoms. Due to the risk of postoperative increase of kyphotic angulation, laminoplasty should be considered. Although laminoplasty alone does not prevent the progression of kyphotic changes, the procedure may allow the use of sublaminar wires and laminar hooks for future surgeries to correct the deformity.

Exome sequencing of Saudi Arabian patients with ADPKD

Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation. Of the CRISP patients with a genetic cause detected, mutations in PKD1 accounted for 85%, while mutations in the PKD2 accounted for the remaining 15%. Here, we report exome sequencing of 16 Saudi patients diagnosed with ADPKD and 16 ethnically matched controls.Methods: Exome sequencing was performed using combinatorial probe-anchor synthesis and improved DNA Nanoballs technology on BGISEQ-500 sequencers (BGI, China) using the BGI Exome V4 (59 Mb) Kit. Identified variants were validated with Sanger sequencing.Results: With the exception of GC-rich exon 1, we obtained excellent coverage of PKD1 (mean read depth = 88) including both duplicated and non-duplicated regions. Of nine patients with typical ADPKD presentations (bilateral symmetrical kidney involvement, positive family history, concordant imaging, and kidney function), four had protein truncating PKD1 mutations, one had a PKD1 missense mutation, and one had a PKD2 mutation. These variants have not been previously observed in the Saudi population. In seven clinically diagnosed ADPKD cases but with atypical features, no PKD1 or PKD2 mutations were identified, but rare predicted pathogenic heterozygous variants were found in cystogenic candidate genes including PKHD1, PKD1L3, EGF, CFTR, and TSC2.Conclusions: Mutations in PKD1 and PKD2 are the most common cause of ADPKD in Saudi patients with typical ADPKD. Abbreviations: ADPKD: Autosomal dominant polycystic kidney disease; CFTR: Cystic fibrosis transmembrane conductance regulator; EGF: Epidermal growth factor; MCIC: Mayo Clinic Imaging Classification; PKD: Polycystic kidney disease; TSC2: Tuberous sclerosis complex 2

Bilaterally Symmetrical Lower Extremity Compartment Syndrome following Massive Transfusion.

Compartment syndrome is a serious condition characterized by raised intracompartmental pressure, which develops following trauma. Well leg compartment syndrome (WLCS) is a term reserved for compartment syndrome in a nontraumatic setting, usually resulting from prolonged lithotomy position during surgery. In literature, 8 cases have been reported regarding well leg compartment syndrome in a supine position and bilateral symmetrical involvement was observed in only 2 cases. In WLCS etiology, lengthy surgery, lengthy hypotension, and extremity malpositioning have been held responsible but one of the factors with a role in the etiology may have been the tissue oedema and impaired microcirculation formed from the effect of vasoactive mediators expressed into the circulation associated with the massive blood transfusion. The case is presented here regarding symmetrical lower extremity compartment syndrome after surgery in which massive transfusion was made for gross haemorrhage from an abdominal injury. In conclusion, blood transfusion applied at the required time is life-saving but potential risks must always be considered.

Bimelic Symmetric Hirayama’s Disease: Outgrowing its ‘Brachial Monomelic Amyotrophy’ Origins

A 18 year old boy presented to us with history of insidious onset, gradually progressive weakness of bilateral upper limbs which started 2 years back but had been static for the past one year. He had difficulty in buttoning his shirt and holding a pen. There was no difficulty in raising his arms while wearing his clothes. He also noticed gradual thinning of both his hands and distal part of forearm near his wrist. There was no history suggestive of lower limb, trunk or cranial nerve involvement. There was no sensory loss and no bowel bladder involvement. There was history of pain over neck on prolonged flexion. There was no history of similar disease in family. On examination bilateral wasting of small muscles of hand and muscles over the medial aspect of forearm. Tone was reduced in bilateral wrist and elbow joints. Bilateral biceps, triceps and supinator jerks were absent. All other central nervous system examination was within normal limits. Muscle enzymes CPK and LDH were normal. NCV of upper limbs showed no response in bilateral ulnar and median nerves. EMG showed denervation potentials and fasciculations. MRI cervical spine showed loss of dural attachment posteriorly with increase in posterior epidural space and engorged venous plexuses at lower cervical and upper dorsal spine. There was antero-posterior flattening of spinal cord from C5 to D3 segment. Based on the clinical presentation and MRI findings a diagnosis of bimelic symmetric Hirayama’s disease was made. Patient was prescribed a cervical collar. At 6 months follow-up patient showed no progression of weakness or atrophy. Hirayama’s disease is a benign non-progressive illness affecting young males causing lower motor neuron type of upper limb weakness without sensory involvement due to forward displacement of the posterior wall of the lower cervical dural canal during neck flexion [1]. The disease was thought to be unilateral or asymmetric in onset if bilateral leading to it being called brachial monomelic amyotrophy. But it is recognised now that up to 10% of patients may have bilateral symmetric involvement [2]. Syringomyelia, spinal cord tumors, multifocal motor neuropathy, and toxic neuropathies are close differentials in cases with bilateral symmetric onset. Early diagnosis and use of a cervical collar prevents progression of disability in Hirayama’s disease [3].

Radiologic Patterns of Necrosis After Proton Therapy of Skull Base Tumors

Discrimination between radiation necrosis and tumor progression after radiation therapy represents a radiologic challenge. The aim of our investigation is to identify patterns of radiation necrosis on brain magnetic resonance imaging (MRI) and positron emission tomography (PET) with Fluoroethyltyrosin (FET) after proton beam therapy (PBT) for skull base tumors. Five consecutive patients with extra-axial neoplasms were included, presenting a total of eight radiation necrosis lesions (three clival chordomas; two petroclival chondrosarcomas; two women; mean age: 49 ± 18.2 years). Radiation necrosis was defined as the appearance of abnormal enhancement on MRI after PBT decreasing over time, and additional histopathologic confirmation in one patient. MRI and PET imaging were retrospectively analyzed by two experienced radiologists in consensus. All lesions were localized close to the primary tumor in the field of irradiation. Three patients showed bilateral symmetrical lesions. All lesions showed T2 hyperintensity and T1 hypointensity. Cerebral blood volume (CBV) was reduced in all available studies. None of the lesions showed a restricted diffusion. FET-PET (three patients) showed a higher uptake in four out of five lesions; three of which had a mean tumor-to-background (TBRmean) uptake lower than 1.95 and FET uptake increasing over time and were correctly classified into radiation necrosis. Most radiation necroses were in direct continuity with the primary tumor mimicking tumor progression. The most consistent imaging findings for PBT radiation necrosis are low CBV without restricted diffusion and FET-PET TBRmean lower than 1.95 or increasing uptake over time. Bilateral symmetric involvement may be another indicator of radiation necrosis.

Typical Patterns of Bone Involvement in Whole-Body MRI of Patients with Chronic Recurrent Multifocal Osteomyelitis (CRMO)

The diagnosis of CRMO often involves a long patient history. We evaluated the spectrum of bone involvement in whole-body magnetic resonance imaging (WB-MRI) and assessed its potential contribution to a more rapid diagnosis. WB-MRI (1.5 T, coronal STIR sequences) in 53 children and adolescents (mean age 11 years, 4.8 - 15.1) with histologically (n = 37) or clinically (n = 16) confirmed CRMO were retrospectively reviewed by two experienced pediatric radiologists. WB-MRI revealed multifocal lesions in all but one patients. Only 26 of them had presented with multifocal complaints. We detected 1 - 27 geographic lesions/patient (mean 9.7). 510 of 513 lesions were significantly hyperintense compared to normal bone marrow. The pelvis, lower extremities, shoulders and spine were most frequently involved. 40 patients (75 %) had bilateral symmetrical involvement of bones. Most of the lesions were located in tubular bones, in 87 % adjacent to one or both sides of a growth plate. 32 % of lesions showed periosteal involvement. Of 456 affected bones, 33 (7.2 %) were deformed, 6 (18 %) were vertebra plana. In the absence of more specific diagnostic criteria, WB-MRI can, in synopsis with clinical findings, substantially contribute to a rapid diagnosis of CRMO. It discovers the typical pattern of multifocal and bilateral bone involvement more often than has been reported for targeted MRI. It readily reveals the characteristic proximity of lesions to growth plates, the sacroiliac joint and triradiate cartilage and helps to uncover asymptomatic spinal complications.

Bimelic Hirayama Disease: Clinical Dilemma Solved by Imaging

Hirayama disease (juvenile muscular atrophy of distal upper extremity) is a cervical myelopathy predominantly affecting adolescent males. It is characterized by progressive muscular weakness and atrophy of unilateral or asymmetrically bilateral distal upper limbs. We report a case of an 18-year-male painter, who presented with gradually progressive, symmetrical bilateral weakness of hands and forearm for the last two years. On the basis of clinical examination, a provisional diagnosis of lower motor neuron type of symmetrical distal weakness due to heavy metal intoxication was kept. However, imaging studies helped in making a definitive diagnosis of Hirayama disease. The patient was advised cervical collar, and there was no progression in symptoms after six months of followup. Due to the rarity of bilateral symmetrical involvement in Hirayama disease, it remains obscured or unsuspected clinically, and MRI plays a pivotal role in diagnosis.

Segmental and generalized vitiligo: Both forms demonstrate inflammatory histopathological features and clinical mosaicism

Background:Segmental vitiligo (SV) and generalized vitiligo (GV) are perceived to evolve by different mechanisms, the former with unspecified neural mechanisms and the latter by melanocyte specific autoimmune mechanisms. However, the two diverse mechanisms are difficult to reconcile in cases of “mixed vitiligo”. To test the possibility of a common pathogenesis, we reviewed clinical and histopathological features of SV and GV.Materials and Methods:As part of an ongoing histopathological study on vitiligo and vitiligo like lesions, over a 10 year period from 2002 to 2011, biopsies were taken routinely from evolving or recently evolved lesions. 50 cases of SV with quasi-dermatomal distribution and 154 cases of GV were identified and the clinical and histopathological features were compared.Results:Mild clinical inflammation was recorded in 33 of 154 GV cases but, none among 50 SV had such features. In addition to bilateral symmetrical involvement, mirror image lesions with unusual segmentation were observed in nine cases of GV. SV with a few bilateral lesions (4) and GV with quasi-dermatomal lesions (3), i.e., mixed vitiligo, were included in their corresponding groups for analytical purposes. Focal lichenoid inflammation of varying degrees around epidermal/adnexal melanocytes was identified as a common feature in evolving lesions of both SV (78%) and GV (70%).Conclusions:SV and GV demonstrated a similar inflammatory histopathological spectrum. “Segmentation/mosaicism”, identified for the first time in GV is another unifying factor. Cutaneous mosaicism harboring fragile melanocyte populations, which are susceptible to external as well as auto-inflammatory mechanisms, is an attractive hypothesis to pursue in the causation of vitiligo.

Osteoradionecrosis of the Upper Cervical Spine after Radiation Therapy for Head and Neck Cancer: Differentiation from Recurrent or Metastatic Disease with MR Imaging

To compare the magnetic resonance (MR) imaging features of upper cervical spine osteoradionecrosis (ORN) with those of recurrent or metastatic disease after the treatment of head and neck malignancies. This retrospective study was approved by the hospital institutional review board, and the requirement to obtain informed consent was waived. From January 2005 to December 2010, 35 patients who had undergone irradiation of head and neck cancer and who had subsequent C1 or C2 lesions at MR imaging were enrolled. Pathology reports, clinical records, and follow-up MR images were reviewed to classify patients into one of two groups-those with ORN or those with recurrence. The MR imaging characteristics in these patients were evaluated. Statistical significance of intergroup differences was assessed by means of the Pearson χ2 or Fisher exact test for categorical variables and the two-sample t test for continuous variables. ORN was diagnosed in 20 of the 35 patients (57%), and recurrent or metastatic disease was diagnosed in 15 (43%). Ten of the 35 patients (29%) had undergone biopsy of the cervical spine or paraspinal soft tissue. The MR images in the ORN group showed significantly more contiguous involvement of the atlantoaxial or atlanto-occipital bones with intervening joint change (P<.001), more cases of vertebral body collapse (P<.01), more bilateral symmetric involvement of the vertebral body (P<.01), and continuation of vertebral body changes with posterior pharyngeal wall ulceration (P<.01). Posterior arch or other cervical level involvement, paraspinal solid mass, epidural involvement, lateral border cortical destruction, and cervical lymphadenopathy were noted more frequently in the recurrence group than in the ORN group (P=.03, P<.001, P=.02, P<.001, and P<.01, respectively). Various MR imaging characteristics can be used to help differentiate between cervical ORN and recurrent disease.