Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report
| Autor: | Alp Özgün Börcek, Selma Pamukcuoglu, M. Kemali Baykaner, Ayfer Aslan |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Pathology congenital hereditary and neonatal diseases and abnormalities Brain tumor Neuroglial Tumor Pathogenesis 03 medical and health sciences Fatal Outcome medicine Biomarkers Tumor Humans Sonic hedgehog Child biology business.industry Brain Neoplasms nutritional and metabolic diseases General Medicine Glioma medicine.disease Immunohistochemistry Pathophysiology Smith-Lemli-Opitz Syndrome 030104 developmental biology Smith–Lemli–Opitz syndrome Pediatrics Perinatology and Child Health biology.protein Histopathology lipids (amino acids peptides and proteins) Neurology (clinical) Neurosurgery business |
| Zdroj: | Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 33(1) |
| ISSN: | 1433-0350 |
| Popis: | Smith-Lemli-Opitz Syndrome (SLOS) is a rare hereditary autosomal recessive disorder with broken cholesterol synthesis causing by 7-dehydrocholesterol reductase deficiency. Although the clinical features and pathogenesis is well-defined, it is unknown whether there is a relationship between SLOS and neoplastic processes, especially brain neoplasms. We aimed to attract the attentions to any possibility of relation between SLOS and intracranial tumor development via a pediatric case with both intracranial high-grade neuroglial tumor and SLOS, and thus to contribute an additional data to the literature on togetherness of these two clinical conditions. In our clinic, we experienced an interesting case of a 10-year-old child with both SLOS and huge brain tumor as rarely seen. Here, we reviewed the features and pathophysiology of SLOS and brain tumors via this case. The patient was operated in our clinic, after, his brain tumor had been diagnosed, and his histopathology was resulted in undifferentiated malignant neuroglial WHO grade 4 tumor. According to current literature, our case is the first report on coexisting of SLOS and intracranial undifferentiated malignant neuroglial tumor. Common pathways like impaired sonic hedgehog (Shh) signaling pathway may be considered for pathogenesis of a probable link between SLOS and brain tumors in further studies. |
| Databáze: | OpenAIRE |
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