An emerging role of platelet-rich plasma and hyperbaric oxygen in the management of inclusion body myositis: a case report

Inclusion body myositis is an uncommon inflammatory myopathy that causes progressive muscle weakness. Patient management includes immunosuppressant therapy and nonpharmacologic therapies, like physical, occupational, and speech therapy. Standard treatment plans focus on the maintenance of muscle strength and function. Many patients do not respond to pharmacologic therapies and due to the progressive nature of this myopathy,patients eventually become debilitated. Hyperbaric oxygen therapy and platelet-rich plasma injections were provided as adjunctive therapy to a 70-year-old female patient with inclusion body myositis. After treatment, she had improvement in her muscle function and improved ambulation. This case study highlights the impact of adjunctive therapy in a patient with inclusion body myositis.

Miositis por cuerpos de inclusión esporádica / Sporadic inclusion body myositis

A pesar de ser la miopatía primaria más frecuente en hombres mayores de 50 años de edad, la miositis por cuerpos de inclusión (MCI) esporádica es una enfermedad rara. En muchas ocasiones su diagnóstico es retrasado por lo que se refuerza la importancia de una adecuada valoración clínica e indicación oportuna de estudios complementarios. En el presente artículo se presenta un caso que tiene la distinción de presentarse en un paciente mestizo, sin afectación demostrada en flexores profundos de las manos y con elementos de gravedad, determinadas por la presencia de disfagia alta funcional y disnea a la posición de decúbito supino. En la revisión realizada no se recogen hasta el presente reportes en publicaciones de esta enfermedad en Cuba. Clínicamente, la afección se caracteriza por debilidad muscular combinada distal y proximal, electromiografía (EMG) con alteración mixta neuropática y miopática, y escasa respuesta a la terapia inmunosupresora. La biopsia de músculo ayuda a establecer el diagnóstico definitivo al demostrar la presencia de inclusiones distintivas en las fibras musculares. El pronóstico es sombrío al mostrar un comportamiento progresivo con afectación de la calidad de vida y llevar a una discapacidad física avanzada(AU)

Despite being the most common primary myopathy in men over 50 years of age, sporadic inclusion body myositis (ICM) is a rare disease. On many occasions its diagnosis is delayed, which is why the importance of an adequate clinical assessment and timely indication of complementary studies is reinforced. This article reports a case that has the peculiarity of affecting a mestizo patient, with no established involvement in the deep flexors of his hands and with elements of severity, determined by the presence of high functional dysphagia and dyspnea in the supine position. There have not been publication reports on this disease in Cuba. Clinically, the condition is characterized by combined distal and proximal muscle weakness, electromyography (EMG) with mixed neuropathic and myopathic impairment, and poor response to immunosuppressive therapy. Muscle biopsy helps establish the definitive diagnosis by demonstrating the presence of distinctive inclusions in the muscle fibers. The prognosis is bleak, showing progressive behavior affecting quality of life and leading to advanced physical disability(AU)

Síndrome de Sjögren primario que debuta con polimiositis mitocondrial, neuropatía axonal y parálisis hipopotasémica: reporte de caso / Onset of primary Sjögren syndrome with mitochondrial polymyositis, axonal neuropathy, and hypokalaemic paralysis: Case report

RESUMEN El síndrome de Sjögren es una entidad multisistémica de naturaleza autoinmune, clásicamente considerada una exocrinopatía debido a la alta frecuencia de síntomas secos (queratoconjuntivitis seca, xerostomía) como resultado de infiltración poliglandular por linfocitos autorreactivos. Sin embargo, menos del 10% de estos pacientes puede iniciar con manifestaciones extraglandulares severas, traducidas en peores desenlaces a largo plazo. Se presenta el caso de una gestante que inició con síndrome de debilidad aguda proximal relacionada con miositis con enfermedad mitocondrial e hipopotasemia severa, en el contexto de acidosis tubular renal distal, como manifestación extraglandular de síndrome de Sjögren primario. Se discuten brevemente manifestaciones neurológicas de esta entidad, incluyendo aquellas secundarias a trastornos metabólicos precipitados por compromiso autoinmune.

ABSTRACT Sjögren's syndrome is a multisystemic autoimmune disorder. It is classically considered as an exocrine disease, given the high frequency of dry symptoms (keratoconjunctivitis sicca, xerostomia) as a result of poly-glandular infiltration by autoreactive lymphocytes. However, less than 10% of these patients can onset with severe extra-glandular manifestations, resulting in worse long-term outcomes. The case of a pregnant woman is presented, who debuted with acute proximal weakness syndrome related to myositis with mitochondrial pathology and severe hypokalaemia in the context of distal renal tubular acidosis, as an extra-glandular manifestation of primary Sjögren's syndrome. Neurological manifestations of this condition are briefly discussed, including those secondary to metabolic disorders precipitated by autoimmune compromise.

A study on demographic pattern of idiopathic inflammatory myopathies in a tertiary care hospital

Background: Idiopathic inflammatory myopathies (IIMs) are a group of chronic systemic autoimmune diseases characterized by proximal muscle weakness and elevated muscle enzymes. Aim and Objective was to analyze the demographic profile of patients with idiopathic inflammatory myopathies (IIM).Methods: This was a cross sectional observational study conducted over a period of two years (2016-2018). After obtaining institutional ethical committee clearance, informed consent from patients. 16 patients who fulfilled the criteria were included in the study. The demographic and the clinical data were analysed.Results: The mean age was 47.3±11.2 years. The study showed female predominance. ANA was positive in 11(68.7%) patients. Among the 16 patients, 5 (31.25%) had polymyositis and 11 (68.7%) had dermatomyositis. The median enzymes levels were creatinine kinase 1134 U/L, lactic dehydrogenase 477U/L, ALT (alanine aminotransferase) 154 IU/L, AST (aspartate aminotransferase) 236IU/L. Raynaud's phenomenon was seen in 37.5%. In our study, 31.25% had hypothyroidism and 6.25% had diabetic mellitus. On follow up 37.5% developed interstitial lung disease (ILD) and 18.75% were found to have malignancy.Conclusions: Steroids and immunomodulators are the mainstay of treatment in patients with idiopathic inflammatory myositis. All our patients improved with steroids. It is important to evaluate these patients during early stages and follow up to prevent complications.

Role of noninvasive ventilation in perioperative patients with neuromuscular disease: a clinical case / Papel da ventilação não invasiva no período perioperatório de doentes com patologia neuromuscular: caso clínico

The inclusion body myositis is an inflammatory myopathy that leads to chronic muscle inflammation associated with muscle weakness. It is characterized by a restrictive ventilatory syndrome requiring ventilatory support under non-invasive ventilation. The authors describe a clinical case and the anaesthetic management of a patient with inclusion body myopathy candidate for vertebroplasty, which highlights the importance of locoregional anaesthesia and of noninvasive ventilation and includes assisted cough techniques, maintained throughout the perioperative period.

A miosite por corpos de inclusão é uma miopatia inflamatória que cursa com inflamação crônica muscular associada à fraqueza muscular. Caracteriza-se por uma síndrome ventilatória restritiva com necessidade de suporte ventilatório sob ventilação não invasiva. Os autores descrevem caso clínico e respectivo manuseio anestésico de paciente com miopatia por corpos de inclusão proposta para vertebroplastia que realça a importância da anestesia locorregional e da ventilação não invasiva e inclui as técnicas de tosse assistida, mantidas durante todo o período perioperatório.

Estudo clínico, histológico, imunoistoquímico e da função lisossomal na miosite por corpos de inclusão / Clinical, histological, immunohistochemical and lysosomal function study in inclusion body myositis

A miosite por corpos de inclusão (inclusion body myositis - IBM), na sua forma esporádica, é considerada a miopatia adquirida mais comum após os 50 anos de idade. Embora seja incluída no grupo das miopatias inflamatórias, estudos recentes mostram um processo particular de degeneração muscular caracterizado por deposição anormal de agregados de proteínas nas fibras musculares e funcionamento anormal dos principais sistemas de degradação proteica. O objetivo deste estudo foi o de avaliar os aspectos clínicos, histológicos e imunoistoquímicos de pacientes com IBM. Avaliamos 18 casos com diagnóstico de IBM de dois dos principais centros de doenças neuromusculares do Brasil (25 biópsias musculares). Na tentativa de diferenciar os casos de IBM das outras miopatias inflamatórias, determinamos o padrão de expressão tecidual da p-tau (p62), alfa-sinucleína e TDP-43. Também foi avaliada a função lisossomal através da reação da fosfatase ácida (marcação da atividade lisossomal global) e determinação da marcação para LC3B (marcador de autofagia). Foi observado que a IBM predominou no sexo masculino (61% dos casos), da cor branca, com início das manifestações clínicas ao redor dos 59 anos de idade e os sintomas mais frequentes foram fraqueza muscular, instabilidade postural com quedas da própria altura, disfagia e perda ponderal, podendo ainda apresentar dispneia. O diagnóstico demorou em média 7,4 anos após o início dos sintomas e frequentemente esteve associada às seguintes comorbidades: hipertensão arterial sistêmica, diabetes mellitus tipo 2, osteopenia / osteoporose, dislipidemia e hiperuricemia / gota. O padrão de comprometimento muscular na IBM foi caracterizado por tetraparesia de predomínio proximal em membros inferiores e distal em membros superiores. Os valores séricos da creatinofosfoquinase em pelo menos uma das medições foram elevados em todos os pacientes, porém sem ultrapassar 10 vezes o limite superior da normalidade. O uso de...

Sporadic inclusion body myositis (sIBM) is considered the most common acquired myopathy affecting adults aged over 50 years. Although included in the group of inflammatory myopathies, recent studies show a particular process of muscle degeneration characterized by abnormal deposit of protein aggregates in muscle fibers and abnormal operation of the main protein degradation systems. The aim of this study was to evaluate the clinical, histological and immunohistochemical patients with IBM. We evaluated 18 cases with IBM diagnostic of two of the main centers of neuromuscular diseases in Brazil (25 muscle biopsies). In an attempt to differentiate the IBM cases of other inflammatory myopathies, we determined the pattern of tissue expression of p-tau (p62), alfa-synuclein and TDP-43. Also evaluated the lysosomal function by acid phosphatase reaction (marking global lysosomal activity) and determining the markup for LC3B (autophagy marker). It was observed that IBM was predominant in males (61% of cases), white colored, with onset of clinical manifestations around 59 years old and the most common symptoms are muscle weakness, postural instability with high falls, dysphagia and weight loss, and may also present dyspnea. The diagnosis took an average of 7.4 years after the onset of symptoms and was often associated with the following comorbidities: hypertension, type 2 diabetes mellitus, osteopenia / osteoporosis, dyslipidemia and hyperuricemia / gout. The muscular damage pattern at IBM was characterized by tetraparesis predominantly proximal lower limbs and distal upper limbs. Serum creatine kinase levels in at least one of the measurements were elevated in all patients, but not exceeding 10 times normal. Immunosuppression was not effective in patients with IBM. The IBM histological findings included diversify dystrophic changes, endomysial inflammation, as well as the occurrence of rimmed vacuoles, in addition to high frequency of mitochondrial changes. Other...

Hypokalemia-Induced Rhabdomyolysis by Primary Aldosteronism Coexistent With Sporadic Inclusion Body Myositis

We describes a patient with hypokalemia-induced rhabdomyolysis due to primary aldosteronism (PA), who suffered from slowly progressive muscle weakness after laparoscopic adrenalectomy, and was later diagnosed with coexisting sporadic inclusion body myositis (sIBM). A 54-year-old Asian male presented with severe muscle weakness of both lower extremities. Laboratory findings showed profound hypokalemia, and extreme elevation of the serum creatine phosphokinase levels, suggestive of hypokalemia-induced rhabdomyolysis. Further evaluation strongly suggested PA by an aldosterone-producing adenoma, which was successfully removed surgically. However, muscle weakness slowly progressed one year after the operation and a muscle biopsy demonstrated findings consistent with sIBM. This case is the first report of hypokalemia-induced rhabdomyolysis by PA coexistent with sIBM, to the best of our knowledge.

Pitfalls in diagnostic myopathology of sporadic inclusion body myositis (SIBM).

Sporadic inclusion body myositis (SIBM) is the most common idiopathic inflammatory myopathy in Caucasians over the age of 50 years. The prevalence of SIBM in the Asian population was initially thought to be very low, although the recent study showed that the prevalence of SIBM in Japan is in fact similar to the prevalence in Australia and the USA. SIBM is a refractory myositis with associated myodegenerative features mimicking the neuropathology of Alzheimer’s disease. The diagnosis of definite SIBM requires the typical clinical features and the presence of an autoaggressive inflammatory reaction, rimmed vacuoles, and congophilic deposits or tubulofilamentous inclusions. About one-fourth of patients with the typical clinical features of SIBM did not fulfill the pathological criteria of the definite SIBM. These canonical biopsy features may be absent in the early stage of the disease. Here we review the typical findings and the diagnostic pitfalls of the muscle biopsy in SIBM.

Inclusion Body Myositis: A case report

In 1971 inclusion body myositis was reported by Yunis and Samaha. This disease is similar with chronic multiple myositis clinically. Pathologically, inclusion body myositis is characterized by intracytoplasmic vacuole with degenerating fibers and accompanied with inclusion body in internal nucleus and cytoplasm. Since then 240 cases of inclusion body myositis have been reported in the world including 3 cases in Korea. A 27 years-old lady had inclusion body myositis, which show slowly progressive muscular weakness. We confirmed this with clinical symptom, muscle biopsy, and electrophysiologic study. We report the typical manifestation of inclusion body myositis in a 27 years-old lady with the brief review of literature.

A Case of Incontinentia Pigmenti with Destructive Encephalopathy

Becker muscular dystrophy is a X-linked recessive disease with the affected gene at locus Xp21, characterized by progressive muscular weakness. Without the definite family history, it has been known that the diagnosis of this disease is almost impossible on clinical grounds alone. We reviewed the muscle pathology of two casses of genetically confirmed Becker muscular dystrophy to know the diagnositc significances of this study. The first case, a 20 year old man, is the classical one with definite family history of X-linked recessive heredity. The muscle pathology of the biceps showed dystrophic muscular changes, including increased internal nuclei, marked variation of fiber sizes and mild endomysial fibrosis. The dystrophin stain of the muscle was also confirmative for the diagnosis. The second case was a 32 year old man who has been biopsied his left vastus lateralis 5 years before this genetic diagnosis. This case is a sporadic one without the family history. The diagnosis at the time of muscle biopsy was limb-girdle muscular dystorphy or inclusion body myositis because of the typical rimmed vacuoles and marked variation of fiber sizes. The dystophin stain was not available at that time. Our conclusion is that the molecular genetic study and/or dystrophin protein test of muscle biopsy should be done in every clinically suspected patient, including limb-girdle muscular dystorphy, inclusion body myositis or rimmed vacuolar myopathies.

Inclusion body myositis: a case report

Inclusion body myositis is a rare myopathy that clinically resembles a chronic polymyositis and histopathologically is characterized by the presence of rimmed vacuoles containing ultrastructural cytoplasmic degradation products with filamentous intranuclear and cytoplasmic inclusions. Since clinical features are not uniform, histopathologic and ultrastructural studies are necessary to confirm the diagnosis. We report a typical case of inclusion body myositis with histopathologic and ultrastructural study. The patient was a 31 year old male who presented with progressive weakness of both forearms, hands and lower extremities for 10 years.