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.
