Solver:WEITINGLIN
Case
I
General data
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Age:53
Gender: Female
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Chief Complaint
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Epigastric pain for 1 week with blackish formed stool
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Presence illness
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53-year-old female
suffered from epigastric pain for 1 weeks with tarry stool.She went to LMD,
taking the examination of EGD showed only superficial gastritis. However, the
patient had blackish stool again and came to our hospital.
After admission,
normocytic anemia was noted. EGD revealed tiny erosions at the
duodenal bulb, and then colonoscopy exhibited lots of
blood clots retained at cecum and no blood clots could be seen at the
terminal ileum. Because of no obvious bleeder, double-balloon endoscopy was
done via the oral route, and one ill-defined mucosal nodular lesion was noted
in the jejunum.
The patient has no
systemic disease and she has the history of GI bleeding with unknown origin 9
year ago.
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1. What is your
tentative diagnosis?
My tentative diagnosis is Inflammatory bowel
disease(IBD),especially may be Crohn’s disease.
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The 53-female-old patient in menopause age has the
presentation of the tarry stool and abdominal pain. According to the
description, it seems not a active GI bleeding situation without the unstable
vital sign and specific physical finding. The normocytic anemia showed the
fact of blood loss. Furthermore. the EGD and colonoscopy roughly rule out some
of the upper GI problem such as Peptic ulcer, Varices , Erosive
esophagitis/ulcer, Mallory-Weiss tear, Vascular lesions, Diverticular
hemorrhage, Angiodysplasia.the finding by EGD and double-balloon show the two
lesions at duodenal bulb and the ill-defined mucosal nodular lesions. The
image show nodular thickening of mucosa which may look like the appearance of
cobblestone.
Under the
impression of the Inflammatory bowel disease. The pattern of the disease more
like Cronh’s disease, which non-bloody stool, lesions mainly were found in
the intestine, uncontinous(one in the duodenal bulb, the other in the
jejunum),the endoscopy finding of the cobblestone appearance nodular
thickening lesions.
The biopsy of the
lesions and serology examination (pANCA，ASCA) can be worked out.
The cross-section CT and MRI can evaluate the luminal narrowing or
extra-luminal complications(abscess and fistula).
The possibility of
TB infection and Tumor still should be ruled out by Chest X ray, Tuberculin
test and pathology report.
Also need to take
the complete history about drug usage(NSAIDS,Aspirin,alcohol),contact history。
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2. Could
other exams be done for survey obscure GI bleeding except EGD, colonoscopy, and
double-balloon enteroscopy?
If other exams could be done before double-balloon enteroscopy?
If other exams could be done before double-balloon enteroscopy?
1.There are also survey such as Small bowel series
,Radionuclide scanning and Angiography can be done to evaluate the obscure GI
bleeding
-Small bowel series
>ingestion of diluted Barium to obtain the information
of the small bowel image such
Stricture
>not good at detecting ulcer
- enteroclysis
>injection Barium, methylcellulose and air in the
proximal small bowel to obtain image
>patient feel uncomfortable
-Radionuclide scanning(Tc 99m RBC bleeding scan )
>high sensitive and noninvasive
>can not localize very specific
-Angiography
>unless the patient have severe bleeding
>can do intervention
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2.Before the double-balloon endoscopy, if we want to
evaluation the small intestine. The small bowel Barium series and Tc-99m RBC
bleeding scan. Both examinations are well to survey the condition of the
small bowel. Another alternative way is to have wireless video capsule
endoscopy. It is very sensitive to detect the blood loss of the
intestine
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Refernece: 1.長庚大學醫學六內科上課講義
2. MGH pocket medicine 4th ,3-3,3-10
3.The Washington manual of Medical therapeutics 33rd,P577-583
4.UpToDate,”Differential diagnosis of abdominal pain in adults”
“Evaluation of obscure gastrointestinal bleeding”
2. MGH pocket medicine 4th ,3-3,3-10
3.The Washington manual of Medical therapeutics 33rd,P577-583
4.UpToDate,”Differential diagnosis of abdominal pain in adults”
“Evaluation of obscure gastrointestinal bleeding”
CASE
II
General Data
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Age:16
Gender: female
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Chief complaint
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Intermittent abdominal dull pain in LUQ > 1 month
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Present illness
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This 16-year-old female suffered from intermittent
abdominal dull pain in LUQ for more than 1 month. There were no nausea,
vomiting,
diarrhea, constipation, bloody stool, fever, and skin
rash, and no relationship to food intake or posture change was noted. Because
abdominal pain persisted, she was admitted for further survey.
After admission,
microcytic anemia (Hb 6.3 g/dL; MCV 66.3 fL) were noted. EGD showed some
small (0.2-0.3 cm) polyps in the stomach and duodenum, and colonoscopy
revealed no abnormal finding. Small bowel series showed some small bowel
polyps, and double-balloon enteroscopy disclosed a big (3-4 cm) wide based
polyp at proximal jejunum (about 50 cm away from the bulb) and piecemeal
resection was done.
The patient has history
of (1) gastric polyp, status post polypectomy, and
(2) intussusception, status post resection.
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1. What is your
tentative diagnosis?
My tentative diagnosis in this case is Peutz-Jeghers
syndrome
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This is a
16-year-old female with multiple polyps in her gastrointestinal tract. The
patient’s chief complaint is the symptom of the intermittent LUQ abdominal
pain. There were no nausea, vomiting. It may not like the disease associated
with hepato-biliary system. There were no diarrhea and fever, it may not like
microbiology infection. There is no constipation, it may no be obstruction or
bowel motion problem. There is no bloody stool, it may not like GI bleeding.
There is no skin rash, and no relationship to food intake or posture change.
It may not like pancreas disease.
It’s very rare that the presentation of the multiple polyps in gastrointestinal tract in this young age. It may be the clinical manifestation in Familial adenomatous polyposis,MYH-associated polyposis , Peutz-Jeghers syndrome, Juvenile polyposis. Because the colonoscopy revealed no abnormal finding, the disease will look more like Peutz-Jeghers syndrome. And the patient has the history of intussusception, which have 43% possibility to be happened in the patient of Peutz-Jeghers syndrome.
The patient also have microcytic anemia. It may be
connected to the disease. Because the polyps in the intestinal tract may
affect the normal iron absorption which may lead to iron deficiency anemia.
The biopsy of the polyps , physical examination and the family history will be very important to do the differential diagnosis in this patient. Also need to have the evaluation of the complete blood count and iron studies.
If needed, can do STK11
gene testing to check whether or not mutate.
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2. If
something important could be acquired in the history and physical examination?
What the risk should we take care in the patient’s
future life?
The family history
of this patient need to be taken carefully. Because this disease is autosomal
dominant disease, there must be also the same disease existed in her family.
If the patient’s parents or relative have such relation disease, it need to
know that the onset, clinical manifestation of the relation disease.
If the patient have the Peutz-Jeghers syndrome, the physical examination may have the finding of the pigmented spots in lip and perioaral region, hand. |
The patient with Peutz-Jeghers syndrome is
associated with an increased risk of gastrointestinal and nongastrointestinal
malignancies.
The risk of gastrointestinal cancer in this patient was between 38-66 percent.The most common sites were Colorectal(38%), Stomach(29%), Small bowel(13%) ,Pancreas(11-36%)。
In female, the
patient have an increased incidence of gynecological cancer(13-18%)。The
most common sites are breast(32-54%), ovary(21%), and cervix(10%).
There are some surveillance
we can do to follow up this patient. First, Regular endoscopy examination
should be done. The endoscopic polypectomy should be performed , if the sizr
of the polyps > 1cm。The video capsule endoscopy can do
every three years.
Monthly breast
self-examination are advised.And between the ages of 25-50 years can follow
up with annual breast NRIs.
Besides the follow
up for the patient, there are advised to do first degree relatives screening
with an history, physical examination, evaluation for melanotic spots.
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Refernece:
1.UpToDate,”Overview
of Peutz-Jeghers syndrome”
“Clinical manifestations and diagnosis of familial adenomatous polyposis “Peutz-Jeghers syndrome and juvenile polyposis: Screening and management of
“Clinical manifestations and diagnosis of familial adenomatous polyposis “Peutz-Jeghers syndrome and juvenile polyposis: Screening and management of
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