Stories about: Challenging Cases

Challenging case: Diagnosing thyroid cancer

thyroid-cancer

The Thyroid Program at Boston Children’s Hospital is one of the first and largest centers in the United States exclusively devoted to the care and treatment of children with thyroid diseases. The expertise of a comprehensive, integrated team — including endocrinology, radiology, surgery, nuclear medicine, oncology and pathology, as well as oncologists from the Rare Tumors Program at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center — attracts patients from across the country and around the world. …Read More

Challenging cases: Managing chronic lung disease after stem cell transplant

Helping our patients survive and thrive after stem cell transplant.It’s Donate Life Month, and at Boston Children’s Hospital’s Division of Pulmonary and Respiratory Diseases, we’re focused on helping our lung transplant recipients survive and thrive year-round.

We give these most critically ill children the best chance by working across disciplines to develop a long-term care plan, using new and innovative therapies when available. We are one of the few pediatric centers to offer photopheresis, a therapy that has been beneficial in treating graft vs. host disease (GVHD) and graft rejection in lung transplantation.

Craig Gerard, MD, PhD and team manage a challenging case.
Craig Gerard, MD, PhD

“As many stem cell transplant (SCT) patients later battle chronic lung disease, they are well served by our integrated team approach involving specialists in pulmonology, endocrinology and dermatology as well as experts in oncology from Dana Farber/Boston Children’s Cancer and Blood Disorders Center,” says Craig Gerard, MD, PhD, chief of the Division of Respiratory Diseases and the Leila and Irving Perlmutter Professor of Pediatrics.

Read the case of a patient treated with a bilateral lung transplant for pulmonary complications after SCT for refractory acute lymphoblastic leukemia who is now thriving.

…Read More

Challenging cases: Managing chronic kidney disease using genetic research

kidney disease

It’s World Kidney Day, and at the Boston Children’s Hospital Hildebrandt Lab, we’re focused on improving the lives of patients with chronic kidney disease (CKD) year-round. Our discoveries about the genetic causes of CKD have a direct impact on patient care. Worldwide, one in five cases of CKD in patients under age 25 is caused by one of 220 genes.

“To date, our research has identified over 80 of these genes. On average, we’re identifying one new gene every six weeks,” says Friedhelm Hildebrandt, MD, chief of nephrology at Boston Children’s Hospital and professor of pediatrics at Harvard Medical School. By pinpointing the exact cause of CKD, doctors can adjust the management of the disease and make appropriate recommendations to patients and their families that lead to better long-term outcomes. …Read More

Challenges cases: Disorders of sexual differentiation and the ethics of gender assignment

Urology-gender assignmentBoston Children’s Urologist-in-Chief and Associate Clinical Ethicist, David A. Diamond, MDshares three complex cases of ambiguous genitalia in which optimal gender assignment was unclear. These case studies discuss patient history, the process of investigation, subsequent dialogue with each family and decisions made in each case.


Children with disorders of sexual differentiation can present complicated management problems. The most challenging aspect of these cases occurs when optimal gender assignment is unclear. For some conditions, outcomes with regard to gender assignment along a male or female pathway are well established. For other conditions the outcomes are far less clear. Over the past two years, we have encountered three complex cases of ambiguous genitalia in which optimal gender assignment was unclear and a complex process of investigation of these children and a lengthy dialogue with each family was undertaken. Subsequently, a pathway was elected for each case that represented a balance between parental preference and patient self-determination. …Read More