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Niemann-Pick Disease Type C
Brian L. Shaffer, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Niemann-Pick disease type C (NPD-C, NPC)
              • Synonyms

                • Juvenile Niemann-Pick disease; Neville-lake disease
              • Definitions

                • Autosomal recessive lipid storage disorder with fetal ascites and hepatosplenomegaly

              IMAGING

              • General Features

                • Ultrasonographic Findings

                  • MR Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Mardy AH et al: A system-based approach to the genetic etiologies of non-immune hydrops fetalis. Prenat Diagn. 39(9):732-50, 2019
                                  2. Ples L et al: First prenatal diagnosis of a Niemann-Pick disease type c2 revealed by a cystic hygroma: a case report and review of the literature. Front Endocrinol (Lausanne). 9:292, 2018
                                  3. Colin E et al: In utero diagnosis of Niemann-Pick type c in the absence of family history. JIMD Rep. 28:105-10, 2016
                                  4. Vanier MT: Prenatal diagnosis of Niemann-Pick diseases types A, B and C. Prenat Diagn. 22(7):630-2, 2002
                                  5. Gene Reviews - Niemann-Pick Type C. Published January 26, 2000. Updated December, 10, 2020. https://www.ncbi.nlm.nih.gov/books/NBK1296/
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Niemann-Pick disease type C (NPD-C, NPC)
                                              • Synonyms

                                                • Juvenile Niemann-Pick disease; Neville-lake disease
                                              • Definitions

                                                • Autosomal recessive lipid storage disorder with fetal ascites and hepatosplenomegaly

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • MR Findings

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Mardy AH et al: A system-based approach to the genetic etiologies of non-immune hydrops fetalis. Prenat Diagn. 39(9):732-50, 2019
                                                                  2. Ples L et al: First prenatal diagnosis of a Niemann-Pick disease type c2 revealed by a cystic hygroma: a case report and review of the literature. Front Endocrinol (Lausanne). 9:292, 2018
                                                                  3. Colin E et al: In utero diagnosis of Niemann-Pick type c in the absence of family history. JIMD Rep. 28:105-10, 2016
                                                                  4. Vanier MT: Prenatal diagnosis of Niemann-Pick diseases types A, B and C. Prenat Diagn. 22(7):630-2, 2002
                                                                  5. Gene Reviews - Niemann-Pick Type C. Published January 26, 2000. Updated December, 10, 2020. https://www.ncbi.nlm.nih.gov/books/NBK1296/