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Diffuse astrocytoma and the diagnostic dilemma of an unusual phenotype: A case report.

ABSTRACT: Diffuse astrocytoma is an infiltrating type of glioma (World Health Organization grade II), which even with histopathology, is difficult to diagnose. Magnetic resonance imaging (MRI) is the cornerstone for diagnoses and follow-up of brain gliomas. This report describes a case of diffuse astrocytoma in a 48-year-old man who presented with sudden right-sided weakness and repeated convulsive attacks. On brain computed tomography, the case was diagnosed and treated as an acute infarction. Ten days later, the patient returned with a total loss of consciousness. Brain MRI images revealed an irregularly outlined lesion involving the splenium of the corpus callosum that extended into the left periventricular parietal lobe of the brain with cystic foci in the septum pellucidum. Contrast-enhanced and new sequences of MRI was helpful in approach to diagnosis because of its superior tissue characterization. The histopathology results ultimately confirmed the diagnosis of diffuse astrocytoma. The patient died postoperatively.

SUBMITTER: Alshoabi SA

PROVIDER: S-EPMC7718471 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Diffuse astrocytoma and the diagnostic dilemma of an unusual phenotype: A case report.

Alshoabi Sultan A SA Alareqi Amal A AA Omer Awatef M AM Suliman Awadia G AG Daqqaq Tareef S TS

Radiology case reports 20201203 2

Diffuse astrocytoma is an infiltrating type of glioma (World Health Organization grade II), which even with histopathology, is difficult to diagnose. Magnetic resonance imaging (MRI) is the cornerstone for diagnoses and follow-up of brain gliomas. This report describes a case of diffuse astrocytoma in a 48-year-old man who presented with sudden right-sided weakness and repeated convulsive attacks. On brain computed tomography, the case was diagnosed and treated as an acute infarction. Ten days l ...[more]

PMID: 33304444

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Project description:BackgroundThe pathogenesis of osmotic demyelination syndrome is not completely understood and usually occurs with severe and prolonged hyponatremia, particularly with rapid correction. It can occur even in normonatremic patients, especially who have risk factors like alcoholism, malnutrition and liver disease. Bilateral tongue fasciculations with denervation pattern in electromyogram is a manifestation of damage to the hypoglossal nucleus or hypoglossal nerves. Tongue fasciculations were reported rarely in some cases of osmotic demyelination syndrome, but the exact mechanism is not explained.Case presentationA 32-year-old Sri Lankan male, with a history of daily alcohol consumption and binge drinking, presented with progressive difficulty in walking, dysphagia, dysarthria and drooling of saliva and alteration of consciousness. On examination he was akinetic and rigid resembling Parkinsonism with a positive Babinski sign. Clinical features were diagnostic of osmotic demyelination syndrome and MRI showed abnormal signal intensity within the central pons and basal ganglia. He also had tongue fasciculations. The electromyogram showed denervation pattern in the tongue with normal findings in the limbs. Medulla and bilateral hypoglossal nerves were normal in MRI.ConclusionWe were unable to explain the exact mechanism for the denervation of the tongue, which resulted in fasciculations in this chronic alcoholic patient who developed osmotic demyelination syndrome. The hypoglossal nuclei are located in the dorsal medulla and radiologically undetected myelinolysis of the medulla is a possibility. Hypoglossal nerve damage caused by methanol or other toxic substances that can contaminate regular ethyl alcohol is another possibility, as it is known to cause neurological and radiological features similar to osmotic demyelination syndrome with long-term exposure. So these toxic substances might play a role in chronic alcoholic patients with central pontine myelinolysis.

Project description:Gastrointestinal stromal tumor (GIST) is the most common tumor of mesenchymal origin in gastrointestinal tract. Immunohistochemical (IHC) staining combined with a typical morphology is used for the diagnosis of GIST. Typically, IHC staining for v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene (KIT) and discovered on GIST-1(DOG1) is positive in almost all GISTs. However, imatinib mesylate, a specific inhibitor of KIT tyrosine kinase, frequently involves changes in the morphology and IHC staining of GIST, impeding the diagnosis. Recently, in situ hybridization (ISH) for E26 transformation-specific sequence variant 1 (ETV1) mRNA was introduced as a useful marker to diagnose GIST.We report 2 cases of gastric GIST, which expressed unusual phenotypes after imatinib therapy.The first patient was found to have a gastric subepithelial tumor in gastroduodenoscopy done for regular checkup. In biopsy of the tumor, it showed homogenous spindle cells that were positive to standard IHC markers for GIST. The second patient visited our hospital because of a palpable mass in the abdomen. In abdominal computed tomography (CT), a tumor arising from the stomach was found. A needle biopsy was done and the patient was diagnosed of gastric GIST because the biopsy showed spindle cells positive to typical IHC markers for GIST. After imatinib treatment, in both patients, the resected tumors were composed of heterogeneous spindle cells negative to KIT, DOG1, and CD34 IHC staining, which was unusual for GIST. However, ISH for ETV1 mRNA done for both biopsied and resected tumors was positive, even after imatinib treatment. A molecular analysis found a mutation in exon 11 of KIT gene before and after imatinib therapy in both patients, confirming the diagnosis of GIST.Both patients took neoadjuvant imatinib treatment, and afterwards, underwent a surgical resection.The patients remain on imatinib treatment and no progression or recurrence has been detected to date.ISH for ETV1 mRNA is a useful technique in diagnosing GIST when IHC with KIT, DOG1, or CD34 fail to stain positive after imatinib therapy.

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Diffuse astrocytoma and the diagnostic dilemma of an unusual phenotype: A case report.

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Diffuse astrocytoma and the diagnostic dilemma of an unusual phenotype: A case report.

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