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803 Possible Causes for Areflexia, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[] Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia[] […] accentuated and lacking in the characteristic quadriceps/deep finger flexor emphasis of s-IBM; almost all patients have sensory signs and symptoms; examination shows diffuse hypo/areflexia[]

  • Glycogen Storage Disease Type 2

    At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable.[] […] to be neuroprotective. 211 Individuals with at least one p.Q292K mutation had later-onset neurologic abnormalities such as mental retardation, expressive language delay, areflexia[] Since these vacuoles are present in the skin of affected persons, one can search for them in amniotic-fluid cells and know within days of amniocentesis whether a fetus at[]

  • Limb-Girdle Muscular Dystrophy Type 2G

    Frequent rimmed vacuoles were observed.[] Related phenotypes are difficulty walking and areflexia of lower limbs Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis[] Showing of 17 Percent of people who have these symptoms is not available through HPO Areflexia of lower limbs 0002522 Autosomal recessive inheritance 0000007 Calf muscle hypertrophy[]

  • Leptomeningeal Metastasis

    CSF fluid pathology with (A) large, atypical cells with irregular nuclei and (B) prominent cytoplasmic vacuoles consistent with adenocarcinoma (40x magnification).[] This produces a lower motor neuron pattern characterized by hypotonia, areflexia, muscle atrophy and fasciculations.[] Figure 2 Malignant cells in CSF. ( A ) Adenocarcinoma: scattered or clustered distribution; intensely stained cytoplasm with occasionally observed vacuoles; most cells had[]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    Distal myopathies are classified based on clinical features, inheritance pattern, and histopathological findings, such as the presence of rimmed vacuoles.[] Paralysis spread to become generalized, except for the cranial nerves, and by age 16 years, patients were tetraplegic with areflexia, contractures, and scoliosis, and required[] IVIg) Myopathies, including inclusion body myositis, which is characterized by wasting and weakness of deep finger flexors and the quadriceps femoris with typical rimmed vacuoles[]

  • Secondary Parkinsonism

    Neuropathology disclosed a spongiform vacuolation in layer II of the frontal cortex, mostly in the Broca area, and neuronal loss in the substantia nigra.[]

  • Abetalipoproteinemia

    […] in apical villous cytoplasm, normal villi Positive stains Fat stains highlight lipid vacuoles Back to top[] Patients develop spinocerebellar ataxia, areflexia, and weakness, accompanying a diffuse neuromuscular disease that resembles Friedreich ataxia.[] Pathogenesis and Morphology Failure to properly export lipids from the small intestine mucosa causes build up of lipids in enterocytes which appear filled with lipid vacuoles[]

  • Friedreich Ataxia

    There was neuronal loss within the dentate nucleus of the cerebellum, with vacuolation and axonal loss in the dorsal columns and spinocerebellar tracts of the upper cervical[] Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease, characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, Babinski[] This is followed by swelling and vacuolation and finally interstitial fibrosis. The nuclei appear hyperchromatic and occasionally vacuolated.[]

  • Acute Intermittent Porphyria

    There was no white matter vacuolation/cavitation.[] The predominantly motor neuropathy associated with weakness and areflexia in AIP can mimic Guillain-Barré syndrome. [7] Nerve conduction studies help in differentiating these[] However, small vacuoles/cavities now aligned along the bundles of periventricular white matter. Figure 1. Noncontrast magnetic resonance images at age 28 months.[]

  • Congenital Muscular Dystrophy

    Serum creatine kinase is usually elevated and biopsied muscle fibers show dystrophic changes and increased variability in fiber size with vacuolization.[] […] muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type AD/AR 250 564 MEGF10 Myopathy, early-onset, areflexia[] There was no evidence of metabolic myopathy in the form of cytoplasmic vacuoles.[]

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