17 Year-old Girl with Unexplained Bruising

The patient is a 17 year-old girl whose first episode of bruising occurred after trauma sustained while playing soccer in March of 2018.  The middle child of three, she comes from a stable family.  She is an active varsity athlete.

For purposes of VGRD, the present illness consists of episodes of unexplained ecchymoses occurring every few months since March 19th, 2018.  This initial ecchymosis was tender and persisted for a month.  She has had three more episodes of bruising since then, not all related to antecedent trauma.

The patient has had poorly explained pelvic pain for two years, menometrothagia, and significant urinary retention necessitating self-catherization.  Extensive pediatric urologic evaluation at a major medical center found only a “lazy bladder.”

Other constitutional symptoms include nausea, vomiting and weight loss.  Over the past two years she has consulted multiple primary pediatricians, a pediatric endocrinologist, a neurosurgeon, a pediatric nephrologist, two pediatric urologists, a pediatric gastroenterologist, a pediatric gynecologist, a neurologist, and a pediatric hematologist. 

Thorough hematologic/coagulation workup was normal except for a minor platelet defect on electron microscopy that was felt insufficient to be causing the ecchymoses.

Two weeks ago she had another spontaneous episode of ecchymoses on her abdomen and neck, that are illustrated in photos.  Although her past ecchymoses have been tender, this most recent extensive bruise on the neck was very painful, and exquisitely tender to light touch.  Over the past two weeks these are slowly resolving.

On questioning both patient and her parents deny any adverse childhood experiences and nothing suggests a factitial etiology.

Clinical Photos:

Lab: Extensive laboratory studies have been normal.

An intradermal autoerythrocyte sensitization test has not been done yet.  Among the many studies done, an MRI showed a small pituitary microadenoma that was considered to be an incidentaloma.

Diagnosis:  The history and clinical appearance suggests Gardner Diamond Syndrome (Autoerythrocyte Sensitization Syndrome).

Questions:  GDS is a controversial diagnosis. 

1. What are your thoughts regarding this entity, especially in reference to this young woman?  She will see a pediatric rheumatologist and a pediatric  dermatologist and a pediatrician with a special interest in adolescent medicine. 

2. How can you tie together her disparate pelvic and urologic symptoms, as well as her unexplained nausea and vomiting with her bruising?

One can imagine how unsettling and scary the past two years have been for this young person and her family.  Your thoughts and suggestions will be appreciated.