QUIZ: Doctor, what's wrong with my son? *solved*

Thursday, 19 November 2009 19:54

Case description: A mother comes to a pediatric outpatient clinic with her 7,5 years old son, who's been having weak for a week, doesn't want to go to school (although he likes it much), has pain in his right leg, especially his knee. Temperature - 36,8 C (measured under his arm), the throat is clear. In the tension is increased in the area of a right knee , enlarged liver, small petechiae on his cheeks and chest .

The mother says that her son has never suffered from any serious diseases, also nobody suffers from any serious disease in their family. She asks you if something serious is happening with her son?

Quiz questions: What should you tell the mother? What are your suspicions? What tests should you order to confirm your diagnosis? What are differential diagnoses?

Comments

0 #1 Anna Kamińska 2009-11-20 17:13

I'd ask some more question, was there a knee injury, infections, ask about temperature etc. I understand that the child is not taking any medicines. Does the child have any changes in his throat (the surface of the tonsils, deposits, aphthous ulcers, candidiasis etc.) And does the child have dyspnoea or any auscultation changes? I'd tell the mother that I have to make some tests first. I'm suspecting a leukemia (won't tell her that) because petechiae (decrease of platelets) and weakness (decrease of erythrocytes) and hepatomegaly. From what I remember joint pain can also be present. I'd order a CBC with smear, I'd tell the mother to come back with the results tomorrow or even today. I'd throw in CRP levels for a good measure.

0 #2 aniamos 2009-11-22 18:48

Does anyone have other ideas?

What diseases do we differentiate in this case?

dr Fish: All abnormalities in physical examination and all essential things in the history have been given, there are no abnormalities upon auscultation.

0 #3 Patty 2009-11-22 22:38

All in all, the leukemia fits best to the above picture. A CBC is necessary, with a manual smear.
The history points at an acute lymphoblastic leukemia (most common in children)

We differentiate leukemia with:
Acute viral infections (the temperature is too low in this case)
Acute thrombopenia
Aplastic anemia
Neuroblastoma (we should test the catecholamines in urine)

We could do a X-Ray because the pain could be caused by an avascular necrosis, common among teenage boys, before puberty. (Osgood-Schlatter disease)

I'm also asking for a CBC with a manual smear, catecholamines levels in urine and a X-ray of the painful knee. We could also do an USG of the abdomen, look for changes in the liver and in the spleen, lymph node packet.

0 #4 darkh 2009-11-22 23:30

I'm betting on Henoch?Schönlein purpura. A complication after a previous disease. It's given that he didn't undergo any serious diseases, but what about e.g. tonsillitis. Tonsillitis could be accompanied by abdomen pain and joint edemas.

The petechiae could be caused by a heavy physical exercise, e.g. if the child started lifting heavy loads at the age of 7 ;-)

On a side note, until the USG won't confirm hepatomegaly, the petechiae are the only symptom which isn't common in young boys.

The unwillingness towards school could be psychological e.g. incoming exam, poor grades, first contacts with girls, some bully etc.

The knee pain is common in boys of that age because of the fast growth of the bones.

Back to diagnosis, I'd prescribe Calcium, Rutinoscorbin (Acidum ascorbicum, Rutosidum) and order urine tests (the disease could damage the kidneys) and a blood smear.

0 #5 Anna Kamińska 2009-11-23 18:17

I'd get into a small polemic with darkh...
The petechiae could be caused by the dyspnoea, it doesn't mean that the child is
It could be Henoch?Schönlein purpura, but since there were no other diseases...
Don't know how does it work over at your university but in mine they teach us that the USG is not used for confirming hepatomegaly but rather to look for changes in the liver, measuring different flows etc.
There is no relative fast growth at the age of 7 it's rather an age of decreased growth before the puberty (the child is gaining weight at that age)

Regarding the differential diagnosis:
autoimmune thrombopenia? Iron/vit. B12 deficiency anemia, viral infections (hence my earlier questions about other symptoms) - especially EBV (but there is a knee pain and he doesn't have a fever, the throat is clean as well so I'm staying with my previous diagnosis)

0 #6 darkh 2009-11-23 22:25

:-) in my university they teach the anatomy of the computers, not humans, I'm not a med student but a polytechnic one :P Don't know much about your magic but it's fun to pretend, no? :D

I still think I'm right though.

0 #7 Patty 2009-11-24 14:12

aniamos... We're stuck without a CBC, our ideas don't cover all of the patients' symptoms. About the autoimmune thrombopenia, it should have manifested earlier perhaps, but we cannot exclude splenomegaly (USG!) or decreased platelets production. We can wonder on and on but the discussion would really go forward if we'd find any leukemia characteristics in a CBC or we'd exclude leukemia after a marrow biopsy. ALL fits perfectly. We should tell the mother that we need to do a couple of tests first and after the results are in we could tell her more. And here's a question... Should we tell the mother in such cases about our suspicions? Everything points to ALL, should we tell that we have to exclude a leukemia first??

0 #8 aniamos 2009-11-24 21:35

Patty.. Yes, a CBC with a manual smear would clear things up, hence I wouldn't give you the results until now.

CBC with a manual smear:
RBC 4 000 000 /mm3
Hb 9,5 g%
WBC 30 000/mm3
PLT 35 000/mm3
MCV 85fl

Reticulocytes 0,1%
smear - 40% undifferenciate d cells.

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The solution
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The most possible cause for all this is Acute lymphoblastic leukemia (ALL)
The symptoms pointing at ALL:
Weakness (very likely because of anemia - correctly pointed out by dr. Fisch - present in 91% of the patients with ALL)
Limb pain - bone pain, present in 23% of the patients, due to lymphocyte infiltration to the bones.
Hepatomegaly (needs a USG confirmation) - 63% of the patients
Petechiae - 43% of the patients

The most common age for developing ALL - 4 years old
More common in boys

Increased temperature - 61% of the patients

The first test - obviously a CBC with manual smear (if possible) an ESR is also helpful (that's what the question was about)
Additional tests:
ionography, uric acid levels, liver enzymes tests, kidney function, blood coagulation, chest x-ray, USG of the abdomen.
Bone marrow biopsy for confirmation

Differential diagnoses:
(what all of you wrote)

Henoch?Schönlein purpura - usually after a bacterial throat infections. Characterized by pain and edemas in the joints, especially in the knees and ankles; skin changes mostly in ankles, on buttocks and on the thighs (In our case - no previous infections, skin changes in the upper body)

autoimmune thrombopenia (ITP) - a common cause of petechiae and hematoma as a result of lower platelets number. It occurs often after minor infections of the upper respiratory tracts, the liver is not generally enlarged. Platelets are decreased, RBC, Hb, and the % in WBC in norm. Reciculocytes increased to around 20%

Infectious mononucleosis - skin changes after antibiotics administration (in patients' history - no drugs) Hb regular, WBC regular; around 20% neutrophils in smear, additionally absolute lymphocytosis with no undifferentiate d cells

Splenomegaly would explain the skin changes, perhaps even the pain in the knee (effusions)

Juvenile idiopathic arthritis - pain, weakness (anemia)

All and all, the CBC with smear solves the case, on the basis of this test we could rule out the above mentioned differential diagnoses.

dr Fish made a good comment about making the CBC and coming with the result as soon as possible.

Thank you all for participating in this quiz, everyone made some good comments, sorry for not posting the results earlier, but that would give out the answer straight away :-)