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.
From Brian Maurer, Connecticut: In general terms one thinks about some sort of coagulopathy or recurrent vasculitis. That would certainly tie in with the menorrhagia and pelvic pain. Although the previous hematologic work up was reportedly negative, I would consider von Willibrand’s high on the list. There are any number of subtypes with varying degrees of expression. Another separate diagnosis apropos the pelvic pain and menstrual issues might be endometriosis.
ReplyDeleteFrom Professor Sharquiek Baghdad: The spontaneous ecchymosis is not a rare skin problem seen among females without any other obvious complaints .It is usually recurrent over a period of time and then disappear and rarely severe ecchymosis.The auto erythrocytes sensitization theory should not be accepted easily as inflammatory reaction always precede ecchymosis.Accordingly there should be inflammation first that cause rupture of blood vessels then followed by ecchymosis???
ReplyDeleteSo the etiology till now could not be explained by the auto erythrocytes sensitization as such? Further thoughts might be helpful
Richard Sontheimer, Salt Lake City: Interesting case. Except for the absence of overt psychological/psychiatric problems which a high percentage of such patients display, this clinical context would be consistent with the Gardner-Diamond syndrome except for the gynecologic and bladder problems. The recent Mayo Clinic series reported a positive “autoerythrocyte sensitization test” in less than half of patients meeting the other clinical criteria for the Gardner-Diamond syndrome. The current recommendations concerning management of Gardner-Diamond syndrome include a complete psychiatric evaluation and any such needed treatment. Treatment of any underlying mental health issues can help mitigate the painful bruising.
ReplyDeleteThe other thing that came to mind in this case of cyclic ecchymosis/bruising was cyclical thrombocytopenia. Has this girl's platelet count been checked during her menses which is the time point at which the platelet count is typically lowest in this curious hematologic condition? Cyclical thrombocytopenia could explain one component of this girl’s gynecologic history, menometrothagia.
From Dato Cheng Leng, Malaysia: Instead of GDS, I would think of a more common condition in a young lady, like a connective tissue disease, especially Systemic Lupus Erythematosis which can be associated with antiphospholipid syndrome and or, leukocytoclastic vasculitis, which causes her bruising.
ReplyDeleteThe nausea and vomiting signifies the underlying systemic disease rather than innocent bruising.
Her pelvic pain may be due to intermittent thrombosis of the iliac veins, possibly associated with her ‘lazy bladder’.
Please add the following which I’ve forgotten at 2:30 am in the early morning:-
1. The irregular and excessive menstrual flow can be explained by antiphospholipid syndrome.
2. Leucocytoclastic vasculitic bruises are typically tender.
from A.R. Pito, Norfolk Island: When I was in practice in Melbourne I saw an occasional case that was similar. These are patients with multiple somatic symptoms. Most of their complaints remain "medically unexplained." This suggests a functional somatic illness. Rheumatologic disease and bleeding diathesis needs to be ruled out; but a careful and sensitive psychiatric evaluation must to be performed. The prognosis for these young people is better than for older individuals. They may be reluctant to discuss personal issues, and their reticence should be respected.
ReplyDelete