Pediatric Annals

Case Challenges 

A 13-year-old Girl with a History of Weight Loss and Fatigue

Robert Listernick, MD

  • Pediatric Annals. 2007;36(8)
  • Posted August 1, 2007

Abstract

This 13-year-old girl was admitted for evaluation of a 6-month history of weight loss and fatigue. Despite a normal food intake, she has been losing weight and stopped menstruating several months earlier. Most recently, she had been complaining of weakness. She previously had been able to walk to school carrying her bag, but she was rapidly becoming unable to do so. She now complains of diffuse pain in all of her extremities and is unable to walk secondary to weakness and pain. Several days earlier, she noted the appearance of multiple masses in her breasts, which prompted medical attention.

Key Learning Points

  1. Children who have slipped capital femoral epiphysis (SCFE) typically are heavy and between 10 and 16 years.
  2. Children who have atypical presentations of SCFE (eg, thin or outside the classic age range) are more likely to have an underlying condition such as hypothyroidism, growth hormone deficiency, or chronic renal failure.
  3. Multiple endocrine neoplasia (MEN) type 1 is characterized most commonly by tumors of the pituitary gland, parathyroid glands, and pancreas.
  4. MEN2A is caused by an activating mutation of the RET proto-oncogene and is characterized by medullary carcinoma of the thyroid, parathyroid hyperplasia, and pheochromocytoma. Despite the activating mutation of RET in MEN2A, some of the patients have hypoproliferation of ganglion cells leading to the development of Hirschsprung’s disease.
  5. MEN2B is caused by an activating mutation of the RET proto-oncogene and is characterized by the early onset of medullary carcinoma of the thyroid, as well as pheochromocytomas. Because of an overproliferation of ganglion cells, these people may develop multiple ganglioneuromas throughout the gastrointestinal tract. They generally have a marfanoid body habitus.

ABOUT THE AUTHOR

Dr. Listernick is professor of pediatrics at Feinberg School of Medicine, Northwestern University, and director of the Diagnostic and Consultation Service, Division of General Academic Pediatrics, Children’s Memorial Hospital, Chicago, IL.

Abstract

This 13-year-old girl was admitted for evaluation of a 6-month history of weight loss and fatigue. Despite a normal food intake, she has been losing weight and stopped menstruating several months earlier. Most recently, she had been complaining of weakness. She previously had been able to walk to school carrying her bag, but she was rapidly becoming unable to do so. She now complains of diffuse pain in all of her extremities and is unable to walk secondary to weakness and pain. Several days earlier, she noted the appearance of multiple masses in her breasts, which prompted medical attention.

Key Learning Points

  1. Children who have slipped capital femoral epiphysis (SCFE) typically are heavy and between 10 and 16 years.
  2. Children who have atypical presentations of SCFE (eg, thin or outside the classic age range) are more likely to have an underlying condition such as hypothyroidism, growth hormone deficiency, or chronic renal failure.
  3. Multiple endocrine neoplasia (MEN) type 1 is characterized most commonly by tumors of the pituitary gland, parathyroid glands, and pancreas.
  4. MEN2A is caused by an activating mutation of the RET proto-oncogene and is characterized by medullary carcinoma of the thyroid, parathyroid hyperplasia, and pheochromocytoma. Despite the activating mutation of RET in MEN2A, some of the patients have hypoproliferation of ganglion cells leading to the development of Hirschsprung’s disease.
  5. MEN2B is caused by an activating mutation of the RET proto-oncogene and is characterized by the early onset of medullary carcinoma of the thyroid, as well as pheochromocytomas. Because of an overproliferation of ganglion cells, these people may develop multiple ganglioneuromas throughout the gastrointestinal tract. They generally have a marfanoid body habitus.

ABOUT THE AUTHOR

Dr. Listernick is professor of pediatrics at Feinberg School of Medicine, Northwestern University, and director of the Diagnostic and Consultation Service, Division of General Academic Pediatrics, Children’s Memorial Hospital, Chicago, IL.

This 13-year-old girl was admitted for evaluation of a 6-month history of weight loss and fatigue. Despite a normal food intake, she has been losing weight and stopped menstruating several months earlier. Most recently, she had been complaining of weakness. She previously had been able to walk to school carrying her bag, but she was rapidly becoming unable to do so. She now complains of diffuse pain in all of her extremities and is unable to walk secondary to weakness and pain. Several days earlier, she noted the appearance of multiple masses in her breasts, which prompted medical attention.

Key Learning Points

  1. Children who have slipped capital femoral epiphysis (SCFE) typically are heavy and between 10 and 16 years.
  2. Children who have atypical presentations of SCFE (eg, thin or outside the classic age range) are more likely to have an underlying condition such as hypothyroidism, growth hormone deficiency, or chronic renal failure.
  3. Multiple endocrine neoplasia (MEN) type 1 is characterized most commonly by tumors of the pituitary gland, parathyroid glands, and pancreas.
  4. MEN2A is caused by an activating mutation of the RET proto-oncogene and is characterized by medullary carcinoma of the thyroid, parathyroid hyperplasia, and pheochromocytoma. Despite the activating mutation of RET in MEN2A, some of the patients have hypoproliferation of ganglion cells leading to the development of Hirschsprung’s disease.
  5. MEN2B is caused by an activating mutation of the RET proto-oncogene and is characterized by the early onset of medullary carcinoma of the thyroid, as well as pheochromocytomas. Because of an overproliferation of ganglion cells, these people may develop multiple ganglioneuromas throughout the gastrointestinal tract. They generally have a marfanoid body habitus.

ABOUT THE AUTHOR

Dr. Listernick is professor of pediatrics at Feinberg School of Medicine, Northwestern University, and director of the Diagnostic and Consultation Service, Division of General Academic Pediatrics, Children’s Memorial Hospital, Chicago, IL.

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