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Ciara’s Struggle

Missed Milestones and Making a Diagnosis


Ryan P. Rogers
Department of Sciences
Wentworth Institute of Technology


This interrupted case study follows Abby and her husband Jim who have recently adopted a young girl, Ciara. Ciara was homeless prior to the adoption and has no medical records aside from newborn vaccinations. Almost immediately following the adoption, Abby and Jim notice some irregularities in Ciara's behavior, which are exacerbated by what seems like a typical upper respiratory infection. Students are provided with notes following each visit in an effort to help them develop and refine a series of hypotheses as they formulate a final diagnosis. The case was developed for an undergraduate cell and molecular biology course comprised primarily of biomedical, civil, and biological engineering majors. It can also be used in more advanced courses in cellular biology, human genetics, anatomy and physiology, or for students enrolled in a pre-medical degree program.

  • Understand and explain the function of the lysosome as a digestive organelle.
  • Describe how endosomes are used in intracellular transport for cellular metabolism.
  • Connect concepts to determine the impact of irregular lipid metabolism on human health.
  • Explain the association of disease and disruption to normal organelle functions.
  • Form and refine a hypothesis as new information becomes available.
  • Use the internet and primary research articles as a supplemental resource for data analysis.
  • Understand how diagnostic tests can be employed to elucidate cellular defects.
Keywords: Lysosomal storage disorder; hypothesis derivation; endomembrane system; analysis; Niemann-Pick; lysosome; endosome; NPC1; NPC2; Gaucher; differential diagnosis
Topical Area: N/A
Educational Level: Undergraduate lower division
Formats: PDF
Type/Method: Interrupted
Language: English
Subject Headings: Biology (General)   Cell Biology   Molecular Biology  
Date Posted: 3/4/2019
Date Modified: N/A
Copyright: Copyright held by the National Center for Case Study Teaching in Science, University at Buffalo, State University of New York. Please see our usage guidelines, which outline our policy concerning permissible reproduction of this work.

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