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Case description:
29-years old female, hospitalized on and on in the last 5 years because of:
- breast nodules, enlarged axillary lymph nodes (histopathology: inflammation)
- abdominal pain in lower quadrant - department of gynaecology: hospitalized 4 times, operated 4 times, diagnoses on discharges: endometriosis, uterine pedunculated myoma, parametrial varices, policystical ovary (histopathology: in each samples there was an inflammation with autoimmunological cells, treated for 8 months with diphereline 245 SR.)
- multiple allergy for everything apart from mould, manifested with contact, respiratory and alimentary symptoms - the patient had 4 anaphilactic shocks, the severe asthma chronica was diagnosed. The patient doesn't follow the doctor's orders, takes inhalants only in "critical" situations, often breaks steroidotherapy arbitrarily, hospitalized because of asthmatic conditions many times
- removed left thyroid lobe - it grew very fast, going down alongside the sternum - TSH before and after the surgery within the norm.
Currently the patient came to a GP with following symptoms:
- huge fatigability, throbbing of the heart, increased sweating (the patient has been doing patient sports for many years - horse riding, yoga, dancing, volleyball)
- subfebrile body temperature maintaining for many months now, with periodical temperature increase.
Body temperature stays between 37,3 and 37,9 Celsius' degrees, independent from day of menstruation cycle
- she also complains about muscle weakness, visible dysfunctions in her left eye and arthralgia
- dry skin, hair loss and complexion deterioration
- the patient's weight increased
- she doesn't constantly use any drugs, sporadically she takes ketonal forte (Ketoprofenum) and anti-asthmatic inhalants
Physical examination:
body temperature - 37,4
heart rate - 168 bpm
blood pressure - 100/65
weight - 85 kg
- tachypnoea without auscultation pathologies, saturation - 96%
- hypotonia on left side, anisocoria - in darkness there is normal reaction for light
- palpable superficial trembles of muscles and closed eyelids
- legs and face with small edemas
- joints stiffness - none
- CBC and urine - normal
QUIZ questions: What will you start with and in what direction will you continue the diagnostic?
The Answer given by the author on:
16.12.2009
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Comments
For a good start we could do some tests:
CBC with smear
ionography, glucose levels
ECG
chest X-ray
TSH, FT4
a consultation form a optician as well
CT and MRI
It seems like a "House MD" kind of case but it's something autoimmunologic al or a STD - what say you about a HIV test?
If the patient would come to me with the same symptoms she'd go straight for a TSH, because the symptoms point to Graves' disease (lower limbs and face edemas, thymus surgery in the past.. what was it exactly??) but then again the TSH was within the norm... perhaps it's not right now ;>
dr. Fish, it is given that the CBC and urine are normal
for Graves' we can also associate fatiguability, sweating, temperature and increased metabolism
It doesn't fit that the symptoms are one-sided (I'd order CT of the head and neck) dry skin (dry skin and increased sweating??) and that weight gain.
Perhaps the patient stopped taking steroids again? Some kind of adrenal crisis? How long do the symptoms last?
We can suspect an autoimmunologic al disease, she was treated with steroids for asthma so the autoimmunologic al symptoms could be subdued, she stopped taking the steroids and the symptoms reappeared
Judging from the first info - the inflammatory tumors, we could, after the ruling out of previous ideas, do DNA tests to check for any predispositions to neoplasms
One more question, how can she do active sports while having a severe chronic asthma?? O_o
-patient gained weight
-slightly swollen legs and face
all those would fit into hypothyroidism (can't see anything about the eyes) although I won't argue, since there are other symptoms pointing to the exact opposite (fatiguability, sweating etc. given by patty) --> we'll know after the tests
Although I though that our patient could have some sort of immunological deficiency (she's young, but is being ill quite often for many years) in a (because of asthma and allergies) IgA and IgE fractions, perhaps some IgG fractions?
About those breast tumors, if they are inflammatory there is no sense in making neoplasm predisposition tests, since there is no correlation between the two. Although, if we're touching genetics we could take family history, any similar cases in relatives, any unexplainable diseases, are they suffering from anything at all? I have a feeling, that without any results we won't get any further, or perhaps she has several seperate diseases.
The symptoms intensified about 3 weeks ago. Beforehand, besides for respiratory tracts infection, she
didn't have any steroid therapy.
glucose levels - 96
ionography - K = 5,87, others within the norm
CBC:
WBC 8.82 G/L
NEU 6.10 / 69.2 %
LYM 1.19 / 13.5 %
MONO 0.969 / 11.0%
EOS 0.486 / 5.51 %
RBC 4.33 T/L
HGB 8.57 mmol/L
RDW 14.6 %
PLT 342
OB 7
CBC after 5 days:
WBC 8.26 G/L
NEU 3.34 / 40.4 %
LYM 3.44 / 41.06 %
MONO 0.726 / 8.79 %
EOS 0.0691 / 8.37 %
RBC 5.03 T/L
HGB 11.87 mmol/L
RDW 16.7 %
PLT 392
OB 6
- tests made in the same lab.
ECG and X-rays don't bring any info to the diagnostic.
MRI of the head - without contrast - no evidence of mass effect. The fluid spaces within the norm. There is a .. present in a right maxillary sinus (14mm)
TSH didn't give any profile, the dimensions of a goitre after excretion: 8,5 x 5,3 x 7,6. After histopatology: autoimmunologic al goitre, with numerous nodules, the biggest one: 2,5cm. After the operation, because of a normal TSH the drugs were not administered
Holter ECG:
mean rhythm value 55 at 9;54am. Max 248 at 1:28pm. Pauses longer than 2,5s = 0. During the day: periods of sinus tachycardia,inc reasing steadily. Currently, episodes of slower pace (from 140 to 50 with a sudden start)
Regarding the sports. It's certain that the patient is exercising regularly - the condition training instead of being progressive is regressive
The genetic tests regarding neoplasms were not made - of little diagnostic importance at the moment ;-)
There is no asthmatic state. After the thyroid surgery the patient was not complaining of dyspnea, she says that the fatiguability is of another character, because when she was having breathing difficulties she couldn't say a complete sentence. (hypothesis: it's possible that there is no asthma ;-) From the history we know that the breathing difficulty is allergenic and related to exercises, the alergologist stands by his previous diagnosis) Now days, without any respiratory problems the patient is getting tired a lot. In the meantime the allergic reactions intensified. In the history there were no major diseases. The mother is completely healthy.
dr Fish - good remark, the patient is having more hypothyroidism symptoms, but the TSH result points out at slight hyperthyroidism ;-)
Regarding what matter was the question about the sports??
I'm adding another pieces to the puzzle ;-):
The patient is admitted to a cardiological-thyroid ward because of the rhythm problems and TSH levels cannot be controlled within the ED. She could not climb a few steps without resting. She starts to have losses of consciousness, with increased thirst and drowsiness after waking up - glucose levels normal, EEG clean, tilt test negative - there is a rhythm increase from 75 to 160 bpm. After a collapse there was an increase of temperature to 38,2C (no infection)
On the ward a functional cardiomyopathy:
isoptin 120 1x2 (verapamili hydrochloridum)
Thyrozol 20 2x1 (thiamazolum)
were suggested - not sure if the patient takes them
After 3 months the patient came to a GP. She told the doctor that she didn't take Thyrozol, she felt bad after taking it.
TSH - 3,75
weight 87 kg
The patient complains of:
- fatiguability
-swelling of the legs, shin and arms pain
-skin itch by night and morning stiffness of the body
- loss of hair
- frequent temperature jumps reaching 38 degrees C
- feels like a wreck (flu-like)
What's the direction??
:-)
P.S. The case is not made-up for this portal ;-)
I have a copy of medical documentation in my house :-))
Hint - think outside the stereotypes.. I'm trying to steer you in the right direction.. I can add that as you can see.. in this case - the obvious becomes unclear ;-)
Good luck :-)
Allergic/immunological reaction, high eozynophil and IgE levels, muscle fatiguabliity, high temperature... perhaps it's a parasite infection? Trichinella spiralis? After all, it can be present in the nervous system, in the eye, in the heart, everywhere where a lot of blood vessels are present, the patient got swollen (hence the weight increase)... Anything regarding uncooked meat, game or anything unknown in the history? Any stomachaches? diarrhea? digestive problems in past weeks. If so we check for CK levels and the antibodies eventually, if not it could be some other worm
Although the increased temp and periodic spikes are present for a year and a half now, in clinical measurements some pattern emerged:
if the morning temp is around 37,2C it stays like this for a whole day (measurements taken every 4h, with different thermometers ;P)
but if the morning temp was below 36,6C then, around 4pm it spiked above 38C, never reaching higher than 38,5C
the increase above 37,6 without reaching 38 caused a noticeable worsening of the patients' condition:
bone, joints, muscle pain, apathy, drowsiness and heavy sweating.
I admit I have been waiting for a long time for a parasite sugestion ;-)
given that the patient spends 80% of her free time in stables.
You're poor with asking about occupational/enviroment history
Hint: there are a coule of elements from the life of the patient worthy of asking about - and it's not about disiseases within the family ;-)
In the matter of paracites - paracyte testing negative ;-)
but there is a progress when excluding things ;-)
On the sidenote.. the patients is getting weaker, has constant problems with functioning... the pain is often depressing.
I'm hoping I'm not falling asleep... that's because of the anesthesiology exam tomorrow.
Perhaps tomorrow the mind will be clearer ;-)
Good luck on the exam ;-))
Let's ask if the patient traveled in the past
How is she eating, how ofter, what's her appetite like... does she have aversion to some things (e.g. boiled carrots :P)
Does she work? If so, where?
We know horses are her hobby and she spends a lot of time in stables, any other hobbies?
How does she live, with whom, does she have a good contact with people overall..
And what does the sight disorder mean? blurred image, darkened image or stupor? or field of view impairment.. During such long diagnostic there was an optician consultation, what were the results of that?
I think that her organism is fighting with itself.. producing antibodies against various tissues and now it's attacking the nerves. therefore we have impaired sight, twitching eyelids, limp hypotonia.. The dyspnea could also be caused by nervous disorders.
By the way, perhaps a highly specific ASST test was made?
The patient is very touchy about her weight, but doesn't use any rigoristic diets. Because of her allergies, her diet is very restricted, she can't eat most of the fruits, but doesn't have cow milk's allergy nor isn't gluten intolerant. From what i know, she isn't hungry very often. She used to say that she doesn't feel hunger and has an appetite only for what she likes regardless of hunger. She drinks a lot of fluids - mainly tea. She works as a child therapist and is a horse riding instructor. She lives with her mom, grandmother and a dog.
The problems with sight were caused by the loss of focus - they were periodic. The fundoscopic examination found no abnormalities. Astigmatism was diagnosed, hyperscopia was found in the left eye - the patient doesn't wear glasses. No changes in the OP.
The patient did not complain of any headaches, even during the eyesight disorders.
Because of the allergic hypersensitivit y the ASST test was not made, since there are no alarming changes on the skin and the test could be not competent.
During summertime, because of the sun exposure, the skin reactions and itch worsened.
aniamos - i think that in your reasoning you're going in the right direction..
I suggest that you piece together the previous information, since tomorrow I'll describe another visit of "our patient" ;-) - It'll be a visit after a month of not seeing her.
and i think it could rearrange a current eventual order of reasoning..
Hint:
aniamos - very good direction, but remember.. we're looking for the source.. because judging from the successive symptoms we could think that "this disease" is progressing.. and plays with our minds ;-)
I'd suggest a psychiatric consultation (hmm.. the patient could be healthy, but for the sake of ruling out a psychosomatic disease)
was it stated that the CT scan didn't find anything? I'm getting a bit lost.. A thymoma could cause an auto aggression.
If we're not going to find the cause the disease could attack the liver - autoimmune hepatitis and God knows what else.
Oh, and did she have a viral infection in the last 5 years (not a common flu but EBV perhaps, or other uncommon one) A viral infection could trigger a start of an autoimmune disease.
BINGO
The diagnosis: paraneoplastic syndrome.
Further diagnosis - THYMOMA - persistant thymus with expansion tendencies, expansive tumor of an anterior mediastinum.
Heh.. Seems so simple.. it's a shame that the unexplainable is often referred to a psychiatrist. The patient was also getting such referrals from the specialists.. when they couldn't give an answer.
When you're solving a puzzle, sometimes a final piece can give you the picture - imagine you're putting together elements from colorful lines.. the last element is black.. at that time you realize that the picture is of an eye = and that the fitted pupil completed the picture.
I wish you determination in solving diagnostic puzzles :-)
Thank you for participation, the patient - I'm 29 years old and I didn't give up solving the puzzle... And now I can hang the picture on the wall - the changes are too extensive to control, but fortunately it's a slow domino...
Therefore I wish you all COURAGE TO THINK OUTSIDE OF THE BOX :-)
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