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

Background 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. Purpose 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. Method 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. Results 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. Conclusion 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.