Congenital myopathy with “reducing bodies” in muscle fibres

A muscle biopsy of a boy of 14 years presenting clinically a benign congenital myopathy showed granular intrasarcoplasmic bodies exhibiting reducing activity. The resemble the bodies described by Brooke and Neville in muscle of two children with severe congenital myopathy which they referred to as "reducing body myopathy". If the reducing bodies are the characteristic morphological feature peculiar to this newly recognized congenital myopathy, the case reported here would be therefore a benign form of reducing body myopathy. The origin and nature of the granular material forming the bodies is doubtful. The close relationship between this material and the myofilaments may suggest that the granules arise from some myofibrillary component.     

An “inflammatory” mitochondrial myopathy. A case report

We describe a case of an adult male patient with progressive external ophthalmoplegia and upper limb weakness, who presented with an episode of sudden respiratory failure. Muscle biopsy showed ragged-red and COX-negative fibers associated with discrete inflammatory infiltrates and necrotizing features. Apart from artificial ventilator support, he was treated with intravenous immunoglobulins and carnitine, with excellent clinical outcome. Mitochondrial DNA analysis revealed the 3251A > G mutation, previously reported in association with rapidly progressive mitochondrial myopathy and respiratory failure. Our case expands the spectrum of this mutation and suggests a therapeutic attempt with immunoglobulins in mitochondrial patients with acute respiratory failure, at least when this mutation and/or muscle inflammation is present. Moreover, this case supports the idea of a pathologic inflammatory response induced by mitochondrial disease; such an abnormal response may be a contributory factor in disease progression or acute exacerbation typical of some mitochondrial diseases, but further studies are needed.     

A case of “purple glove syndrome”

Neurological Sciences -     

A case of polymyositis with ophthalmoplegia☆ Laboratory examinations

OBJECTIVE： Polymyositis （PM） mainly involves proximal limb and trunk muscles. Ocular muscles are not affected, except in rare cases with both PM and myasthenia gravis （MG）. Thus, the results of laboratory examinations in such a patient deserve to be reported. METHODS： To analyze the clinical, imaging and pathology datas on a 65-year-old woman patient with PM with complex symptoms, who presented mainly ophthalmoplegia. The patient consented to all examinations and the hospital Ethics Committee approved the study. The laboratory examinations included creatine kinase （CK）, ENA, tumor marker, function of thyroid, cranial MRI, and electromyogram （EMG）. Biopsy of the left quadriceps femoris was performed, frozen specimens were stained with hematoxylin and eosin, ATPase, NADH tetrazolium reductase, periodic acid Schiff, oil red O, modified Gomory trichrome and MHC-I, to investigate the pathology of muscle fibers RESULTS： Laboratory results showed： CK, 108.32μ kat/L; antinuclear antibody： （＋）; ENA, （-）; tumor marker, （-）; normal thyroid function, MRI showed no abnormal signals in brain and extraocular muscles. Electromyography of the bilateral deltoid, biceps brachii, musculus quadriceps fexoris, anterior tibialis showed fibrillation potentials, positive potentials and short-duration, small-amplitude polyphasic potentials on voluntary movements with a full interference pattern on mild exertion. Repetitive stimulation did not result in any increment or decrement in these potentials. A muscle biopsy of the left quadriceps femoris showed many small round muscle fibers without peripheral bundle distribution and apparent myofiber degeneration, necrosis and phagocytosis. There were several focal lymphocyte infiltrations. MHC-I immunohistochemical staining was positive in most fibers revealing inflammatory infiltration of normal fibers with MHC-I expression. CONCLUSION： This patient showed increased CK, typical triad of myopathy in EMG, and apparent degeneration and necrosis in biopsy     

Response to “a fatal case of Guillain-Barré syndrome after infection with COVID-19”

Journal of NeuroVirology -     

A Japanese case of β-ureidopropionase deficiency with dysmorphic features

β-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation, and it is caused by a mutation in the UPB1 gene. Approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. Non-neurological symptoms have been rarely reported. We describe a case of this disease with developmental delay and dysmorphic features. Gas chromatography–mass spectrometry-based urine metabolomics demonstrated significant (?+4.5 standard deviation after logarithmic transformation) elevations of β-ureidopropionic acid and β-ureidoisobutyric acid, strongly suggesting a diagnosis of β-ureidopropionase deficiency. Subsequent quantitative analysis of pyrimidines by liquid chromatography–tandem mass spectrometry supported this finding. Genetic testing of the UPB1 gene confirmed compound heterozygosity of a novel mutation (c.976C>T) and a previously-reported mutation (c.977G>A) that is common in East Asians. β-Ureidopropionase deficiency is probably underdiagnosed, considering a wide phenotypical variability, non-specific neurological presentations, and an estimated prevalence of 1/5000–6000. Urine metabolomics should be considered for patients with unexplained neurological symptoms.     

A case of recurrent Guillain-Barré syndrome with myocarditis]

We report a 35-year-old man who recovered from an initial episode of Guillain-Barré syndrome (GBS) and had acute relapse after two years of asymptomatic interval. He had an acute muscle weakness with areflexia in his extremities following an upper respiratory tract infection in 1993. He was treated with plasma exchange and recovered completely within two months. Two years later he had a relapse of muscle weakness in the same distribution as the initial episode following the symptoms and signs of congestive heart failure. Biopsy of the heart muscle disclosed mild infiltration of lymphocytes with edema and fibrosis: the diagnosis of healing myocarditis was made. He underwent plasma exchange after the heart failure resolved and fully recovered neurologically within three months. The association of GBS and myocarditis is extremely rare. Moreover, there have been no reports describing recurrent GBS with myocarditis. Since GBS with myocarditis sometimes takes a fatal outcome, careful observation and treatment are mandatory.     

Fasciculations in nerve and muscle disorders – A prospective study of muscle ultrasound compared to electromyography

Objectives

We examined the clinical utility of muscle ultrasound (MUS) in detecting fasciculations in patients with nerve and muscle disorders (NMD) and investigated the impact on diagnostic sensitivity when combining electromyography (EMG) and MUS.

A case of neuro-Beh?et's disease presenting with chorea]

A 46-year-old man was admitted to our hospital because of emotional instability and involuntary movement of the right upper limb. Neurological examination revealed inability to concentrate, emotional incontinence, recent memory disturbance, chorea of bilateral upper limbs and neck, and bilateral pyramidal signs. Brain MRI showed atrophy of bilateral caudate nucleus and diffuse abnormal intensity area with low intensity on T1-weighted images and high intensity on T2-weighted images in cerebral white matter around the lateral ventricles. Huntington's disease was suspected at first, but it was ruled out by DNA analysis. After admission, oral and genital aphthae developed and the CSF examination showed pleocytosis (273 leukocytes/mm3; 39 polymorphonuclear leukocytes and 234 lymphocytes), so we diagnosed this case as neuro-Beh?et's disease. Although basal ganglia is occasionally involved in neuro-Beh?et's disease, chorea is rare. Neuro-Beh?et's disease should be considered as a cause of chorea.     

A case of bilateral frontal tumors without “frontal syndrome”

We report the longitudinal case study of a right-handed patient harboring two frontal tumors that benefited from bilateral simultaneous surgery. The tumors were WHO Grade II gliomas located in the left inferior frontal area (including the cingulate gyrus) and the right anterior superior frontal gyrus. The double tumor resection was guided by direct electrical stimulation of brain areas while the patient was awake. Neuropsychological assessments were administered before and after the surgery to analyse how the brain functions in the presence of two frontal gliomas that affect both hemispheres and reacts to a bilateral resection, which can brutally compromise the neuronal connectivity, progressively established during the infiltrating process. We showed that both the tumor infiltration and their bilateral resection did not lead to a “frontal syndrome” or a “dysexecutive syndrome” predicted by the localization models. However, a subtle fragility was observed in fine-grain language, memory and emotional skills. This case study reveals the significance of brain plasticity in the reorganization of cognitive networks, even in cases of bilateral tumors. It also confirms the clinical relevance of hodotopical brain models, which considers the brain to be organized in parallel-distributed networks around cortical centers and epicenters.