Medical
Mystery – Can you guess the diagnosis?
Homo sapiens are arguably the oddest of the mammalian lineage. Practically
hairless, given to odd bursts of extreme emotion, prone to ingesting substances
that impair their chances of survival and transference of genetic code, and, speaking
of code, possessing a penchant toward cryptic messages of intentional and
unintentional consequences. From the forensic investigator to the elementary
school teacher and even the family doctor, these peculiar tendencies of the
human race generally serve to reduce the ennui at least.
I am not a forensic pathologist, nor am I a
teacher (thank goodness!) – I do see a fair number of sick people on a regular
basis – some more ill than others in spite of their opinions. As physician, it
is not always obvious what the precise problem is that ails a client seeking
medical attention. Part of the job of a physician is to question, to examine,
to explore and test the possibilities and come up with the diagnosis. On
occasion, if doctor and patient are fortunate, finding the problem or diagnosis
will help lead to the solution or cure. The difficulty typically lies in
determining the precise detail of the patient’s problem, physical, mental,
emotional… or all of the above? This process is not always as straightforward
as one might imagine, or read about in the standard medical textbook.
Humour me as I set forth a few recent examples
to illustrate my point.
Case
1: The Case of the Mysterious Stomach
Bump (part 1)
AC was a 17-year-old teenager. A typical schoolgirl.
On the examination table she fidgeted nervously and smiled awkwardly as I
reviewed her medical history and lab results with her.
“So, you’re here because you are having
irregular menses,” I read the chief complaint listed on her encounter form.
“Yes, doctor.” She waited for me to
continue.
I skimmed the rest of medical history and
summarised. “It looks like you missed your period in last month and now this
month but otherwise, you have no other problems.” I glanced in her direction.
She nodded in affirmation.
“Have you ever missed your period before?”
“No.”
“So prior to last month, your period came
every month?” I re-stated the question for clarification.
“Yes, doctor,” she replied and then hurried
to explain. “When I didn’t have my period, I did a pregnancy test. I’ve done
five tests.”
“And?” I waited for an answer.
“They were all negative but I still haven’t
seen my menses. It feels like it wants to come but it hasn’t come.”
I looked at the lab result in her book. The
nurse who had initially assessed her had already sent her to the lab and had
them check a urine pregnancy test.
“It says here in your book that your test
today was negative.”
She nodded.
I rose and came over to continue with the
physical examination portion of our visit. Eyes, ears, nose, throat… all
unremarkable. Heart sounds normal. Lungs were clearly working well with no
signs of asthma or pneumonia. There were no stigmata of HIV infection. Nothing
stuck out on the exam until I reached her stomach. My examining fingers
explored a large, firm mass in her stomach.
“How long have you had this [mass] in your
stomach?” As I palpated the smooth contours of the firm bulge in her abdomen
she did not appear to have any discomfort.
“For long, doctor. It’s been for long.”
“How long is long? A week, a month,
years…?” I probed for a more precise time period.
“Since I was little,” she answered.
“Your belly has been like this since you
were a little child?!” Her answer was rather unexpected.
“Yes, doctor,” she affirmed sincerely.
“You have had this lump,” I pushed on the
large abdominal bulge in the middle of stomach for emphasis and clarity, “since
you’ve been a child?”
“Yes, doctor.”
“And how long have you noticed your stomach
getting big like it is now?” I was not convinced.
“As long as I can remember, doctor.”
Now, you have your case. History. Physical
exam. Lab tests: Seventeen-year-old female. One month, almost two months, with
no menstrual period. Large stomach mass from infancy. Negative urine pregnancy
test.
Diagnosis?
Case
2: The Case of the Mysterious Stomach Bump (Part 2)
She came with her father. Chief complaint: ‘fever
and weakness and chest pain’.
“She’s not well,” her Father stated the
obvious as his daughter resignedly climbed onto the examination bed. I grabbed
her arm to steady her as she wobbled precariously a few times in her attempts.
“How long have
you been sick?” I asked.
“Four years,” her
father promptly replied.
“Four years?!” I
raised my eyebrows in surprise. “You’ve had fever for four years?” I tried to
clarify things a bit.
“No, doctor. The
problem is her stomach. It pains her,” her father corrected while his daughter
remained quietly exhausted on the exam table.
“Ah,” I nodded.
“So there are two problems – fever that’s been of recent and then the stomach
pains for four years.”
Her father gave
me an affirmative nod. “The stomach, it’s pained her for long. She is not well.
She drink plenty medicine but to no avail.” His palms turned upward in a
gesture of helplessness. “The stomach has too much pain, she’s not well….”
He continued to elaborate
on the severity of his daughter’s stomach while I perused her medical booklet. Hum… a blood transfusion? Haemoglobin 6.7 g/dl. That’s
interesting. Ciprofloxacin. Anti-malarial
medicine. Analgesics. Anti-spasmotics. The father was right – there was a
long string of antibiotics and other medications that she had taken.
“What kind of
problem with her stomach does your daughter have? What have you been told?”
“I don’t know,
doctor,” he shrugged.
“Has she ever had
a blood transfusion?”
“No.”
I asked a few
more questions as the picture of her past hospitalizations came to light
through my inspection of the various treatments and lab tests done. Somewhere
there was a line that read, ‘enlarged spleen.’
“Has anyone told
you that HF has a large spleen or mentioned the need for surgery?”
“No, doctor,”
HF’s father shook his head while his daughter did not add anything to the
contrary.
I stood up to do
the physical exam.
“How old are
you?” I addressed HF directly this time.
“Sixteen,” she
whispered.
I was puzzled.
The last entry in her book was over a year ago. Why wait until she had a high
fever to come to the doctor for an obviously chronic problem.
I looked down at
her abdomen. It was clearly bulging. On palpation, I felt a firm mass on the left
side where one normally feels only soft intestines. There was more mass filling
up her stomach below her naval too.
“Are your periods
regular?” I inquired.
She nodded, yes.
“Can you go to
school?”
“No. She cannot
even go to school because of her stomach,” her father interjected emphatically.
Interesting. 16
year old female with a mass in her stomach and too weak to continue her studies
in school.
One diagnosis or
multiple?
Case 3: The Case of the Mysterious Stomach Bump (Part
3)
Madam was a tired
34-year-old client. I called her name in the waiting area and found her
sleeping, stretched out on the patient bench getting a rest.
“You are having
fevers, weakness, headache, lack of appetite, back pain, and ‘something moving
in my stomach’?” I looked up from her medical book.
She nodded
wearily.
“Anything else?”
“Dizziness.”
I glanced over
her blood pressure, temperature, and pulse that were essentially normal. “When
was your last menses? It says here that it was in August (1 month ago). Are you
pregnant?”
She shrugged. “I
don’t know, doctor.”
“Have you been
pregnant before?”
“Yes, doctor. My
youngest is 1 year and 4 months.”
“And you feel
something moving in your stomach?”
She nodded.
“Like a baby
moving inside?” I noted her protuberant stomach and felt the rounded mass of
her uterus.
“I don’t think
your last period was in November.” Apparently this past week has attracted a
large number of ‘spontaneous’ pregnancies. I was getting used to the vague
answers and lumpy bellies now. No need for a pregnancy test this time! Besides,
Madam has just put to birth relatively recently. She wasn’t naïve to the signs
and symptoms of pregnancy.
Denial is a
powerful tool…
“I can’t be
pregnant. My baby is only one year and four months,” she repeated.
“Were you using
anything to prevent pregnancy, family planning, contraceptives…?”
She shook her
head.
I put the
ultrasound probe on her lower abdomen that bulged out at the naval.
Diagnosis?
Case
4: The Case of the Worried Man (for something different)
On average, the male species tends to avoid
hospitals, clinics, and doctors in general (unless they’re Hollywood actors
that play the role of doctor). When a man comes in without his woman, you can
be fairly certain that the problem is important to him.
JJ was 28 years old. He worked in the
construction business and helped to build all the local cement multi-storey
structures that are popping up locally in Buea and the surrounding area. He was
short and stocky and strong.
He entered the consultation room
hesitantly. “Please, sit down.” I indicated the chair opposite mine.
He glanced around, scoped out his
surroundings, and finally seated himself.
“What brings you to the hospital today?”
He was quiet for a few moments. I waited.
His medical booklet noted that he had “left testes pain”.
JJ gathered his thoughts together and
began, “I have pain here.” He pointed to his groin. “It’s not all the time,” he
assured me.
“Ok…” I waited from him to continue.
Awkward silence.
“That’s all.”
That was all from his perspective. I still
had questions. Starting with his concern over the pain, I asked all the other
usual medical questions that can help narrow the problem. He answered them all
very succinctly.
His exam was, not surprisingly,
unremarkable. “No hernia,” I reassured him. “Everything on exam is normal so
far.”
He nodded.
Given the topic of the day, I seized the
opportunity to do his STI (sexually transmitted infection) labs: syphilis, gonorrhoea,
Chlamydia, HIV. He agreed.
“Oh, doctor,” he paused as he gathered his
briefcase, “I forgot to mention that my leg,” he touched his left leg,
“sometimes it feels numb, like it wants to die inside.”
I nodded as I added this random factoid to
his review of systems. JJ then went off to the lab for his tests.
An hour later, the tests were complete. I
looked at the results. I had a diagnosis. Do you?
Case
5: The Case of the Mysterious Stomach Bump (Part 4)
I briefly reviewed the initial history of
KC before inviting her back to the consultation room. “Abdominal swelling” –
could be interesting or not. Nothing else jumped out at me from the notes.
“So, you’re here because you are worried
about the swelling in your stomach?” I queried when KC had seated herself across
from me?
“Yes, doctor,” she twisted her scarf
between her fingers and lowered her gaze.
“Can you tell me more this problem?”
“My stomach, it’s swelled.”
“Anything else?”
She shook her head.
“Can you tell me how long your stomach has
been swollen?”
“For long, doctor.”
“And have you been to the hospital for this
problem in the past?”
She nodded but did not elaborate.
I resorted to reading the details in her
medical book. There were the usual suspects: typhoid, malaria, and stool
analyses along with their respective treatments. I didn’t see anything that
would explain her swelling.
I stood up and addressed KC again who’d
been sitting patiently while I sifted through loose papers and tattered pages.
“Come up to the exam bed and we’ll examine your stomach, ok?”
She acquiesced. “Any pain?” I prodded her
stomach.
“No,” she answered easily.
No big spleen. No big liver. No masses,
actually. Lying supine on the bed, her stomach didn’t appear impressively
swollen. I decided to do a small ultrasound. I’m not an expert in the nuances
of deciphering abdominal pictures but sometimes problems can be rather obvious.
This happened to be one of those cases. Diagnosis?
Case 6: The Case of
the Mysterious Stomach Bump (Part 5)
LL was an energetic young 25 year old
woman. She practically bounced into my consultation room, leaping up with
enthusiasm when I called her name in the waiting area. (Of course, part of this
could have been the rather extended time she was waiting…)
“Welcome. Come, sit over here.” I invited
LL to situate herself on the blue examination table in front of me.
“How was your Christmas?” I looked up from
glancing over her medical book.
“Fine, doctor.” She smiled.
“You already did a pregnancy test, I see.”
I noted the red ink indicating a negative urine pregnancy test this morning.
“Yes, doctor.”
“How come?” Her last period was just under
a month ago.
She shrugged. (Not the most helpful answer)
“Ok. Any other complaint?”
“My stomach’s too big, doctor.”
“Does it pain you? Are you having any
problems with your stool?” I wondered if there was a hidden concern within her
statement.
She shook her head. “No, it doesn’t pain.”
“Was your last menses normal?”
“Yes.”
“Are you menses regular – you see them
every month?”
“Yes.”
Still unsure of her real reason for
consulting, I continued with the examination. “Why do you think you might be
pregnant?”
“I don’t know, doctor.” She gave a
half-embarrassed shrug and smile.
“Is there a chance you could be pregnant?”
“I don’t know.”
“Do you feel pregnant?”
She shrugged.
“Do you want to be pregnant?”
“I don’t know, doctor.”
Again, not the most revealing of answers!
I finished my physical exam. There was
nothing remarkable. Her stomach soft, squishy, and lump-free. There was nothing
to indicate anything to contradict her negative pregnancy test.
“Well, I don’t think you’re pregnant,” I
finally concluded. “Your test today was negative for pregnancy and when I
examine you there is nothing to say you might be pregnant.”
LL sat up. “But, doctor, why is my belly
getting bigger?”
“What do you mean?”
“I’m not eating too much but my stomach is
still coming out.”
She did have a point. Her abdomen did have
a small, rounded bulge to it’s contours.
I shook my head. “Well, it’s not getting
big because you’re pregnant,” I reassured her.
“Then why, doctor?” She insisted.
“Um… maybe you’re eating more and it’s
fat?” There was nothing to indicate anything was abnormal. I re-examined her
stomach and placed the ultrasound probe on her belly to pacify her persistence.
At the end of my second exam, I made my
final diagnosis. What do you think?
Answers:
Case 1: Remember how humans are a strange species given to cryptic messages? ... the ultrasound on 17 yo girl with abdominal mass since childhood and no menses for over a month showed a single baby. She was 5 1/2 months pregnant. Yes, I do believe she'd missed more than one period!
Case 2:Young girl with fever and large abdominal mass and weakness... massive splenomegaly with malaria and an Hb of 9.6 (not pregnant!)
Case 3: Pregnant, 5 months + malaria. As my clever friend, Laura, pointed out -- "a parasite and parasites".
Case 4: The worried man with the testicular pain (sometimes) and occasional numbness in the leg -- well, can't really explain the pain in his groin but it's good he did his STI work up - HIV positive. Sometimes the doctor finds more than they want wrong.
Case 5: Ultrasound revealed ascites -- fluid in the abdominal cavity. Not sure why she had ascites since she was otherwise generally healthy.
Case 6: Excess Adipose Tissue - fat. This energetic 25 yo female was quite healthy, actually. She was not pregnant. She did not have a big spleen or a big liver. She did not have ascites or a uterine fibroid. In fact, she didn't have anything IN her belly. She had just gained a bit of weight - belly fat - nothing more :-)
Answers:
Case 1: Remember how humans are a strange species given to cryptic messages? ... the ultrasound on 17 yo girl with abdominal mass since childhood and no menses for over a month showed a single baby. She was 5 1/2 months pregnant. Yes, I do believe she'd missed more than one period!
Case 2:Young girl with fever and large abdominal mass and weakness... massive splenomegaly with malaria and an Hb of 9.6 (not pregnant!)
Case 3: Pregnant, 5 months + malaria. As my clever friend, Laura, pointed out -- "a parasite and parasites".
Case 4: The worried man with the testicular pain (sometimes) and occasional numbness in the leg -- well, can't really explain the pain in his groin but it's good he did his STI work up - HIV positive. Sometimes the doctor finds more than they want wrong.
Case 5: Ultrasound revealed ascites -- fluid in the abdominal cavity. Not sure why she had ascites since she was otherwise generally healthy.
Case 6: Excess Adipose Tissue - fat. This energetic 25 yo female was quite healthy, actually. She was not pregnant. She did not have a big spleen or a big liver. She did not have ascites or a uterine fibroid. In fact, she didn't have anything IN her belly. She had just gained a bit of weight - belly fat - nothing more :-)
I enjoy reading your posts! Are you going to post the diagnoses because I am now drawn into their stories and very curious? :)
ReplyDeleteUpdated with answers! Thanks for following along.
DeleteThank you!
DeleteNice post. Well what can I say is that these is an interesting and very informative topic on medical stomach problems
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