mcas diagnose
Challenge Yourself: Diagnose This Rare Case
Please direct your response to: contact@rarediseasesindia.org
March 24, 2014. The following information is provided by the patient/guardian and is reproduced with minor edits for clarity.
Seven years old male child based in Chembur, Mumbai has been having moderate to acute peri-umbilical pain and has following symptoms and tests done.
Repeated USG / CT (Plain) has shown only mild Splenomegaly (always) and sometimes mild Hepatomegaly.
Its 4 years (remission for nearly a year in 2013 -- with mild symptoms which went away with carminatives -- though he did have a whole lot of episodes of insect-bite eruptions & 3 episodes of flat-red-itchy patches in response to some insect bite – 1 antihistamine dose cleared it- local applications – no effect) Otherwise, the pain is bearable to ACUTE (it does vanish sometimes)
Does NOT have Abdominal Migraine or Abdominal Epilepsy
1) very High Vit B12 (1522 pg/ml)
2) High IgE levels ( 317 U/L)
3) High Eosinophil counts (9%)
4) Mild Splenomegaly has been CONSTANT in all ultrasound images & on clinical examination too)
5) off-&-on USG shows mild Hepatomegaly too !
6) Alkaline Phosphatase : HIGH (189 U/L)
7) RBC :sometimes reported as microcytic & hypochromic
8) Serum Amylase : HIGH ( 100 in a ref range of 21-100)
9) 25-OH-D3 levels : LOW : 12.3 ng/ml
10) Glycosylated HbG (Hb1Ac) : LOW ?? ( 4.7%)
11) His blood counts are wonky :
WBC : 6.980 (ok)
Neutrophils : 47%
Eosinophils : 9%
Lymphocytes : 37% (LOW)
Monocytes : 9% (HIGH)
Basophils : Nil
Urine reports : Protein : trace & & WBC occasional
Stool Reports : Pus cells range between 0 to 6-to-8
Macrophages 0 to occasional
Mucous : sometimes "present"
There is NO fever, NO Vomiting, No Diarrhoea.
His Liver Function test Panel : only shows High Alk Phosphatase (189 U/L), rest = Normal
Sr. LEAD : levels = normal ( 2.17 mcg/dL)
Iron studies, Ferritin, Sr. Iron, TIBC, Transferrin Saturation & reticulocyte counts , Hb studies (by HPLC) for sickle cell, Thallasemia, etc., Thyroid tests for T3, T4, TSH, ESR, LDH, C-reactive Protein, Electrolytes, Sr. Creatinine Sr. Ca ALL = NORMAL
ANA = -ve, Porphobilnogen studies : Ur. PBG, Ur. MMA, delta Amino Levulinic Acid : -ve
(a) Paul Bunnel & (b) Brucella IgG & (c) G6PD = -ve
Widal, Mantoux, Malarial Parasites = -ve (repeatedly)
Appetite = GOOD, steadily increased in ht & wt (not as much he should have) : is generally skinny now. Down from 95 %ile in Ht & Wt to 45 %ile Wt & 70 %ile in Ht
High IgE levels ( 317 U/L ) : Serum based allergy tests show allergies to Dust Mites (HIGH), Milk & Cassein ( Moderate Class-2) and Fig & Egg white (mild--Class-1).
Milk, Cassein incld. Milk solids stopped Now.
1. Could it be Mast Cell Activation Syndrome/Disorder ?
2. S. TRYPTASE to be done?
3. C1-Esterase Inhibitor deficiency tests & C1, C2, C4 Complements?
Pedriatician : suggested Antihistamines + H2 receptor antagonists (eg. Ranitidine) --is looking at Mast Cell Membrane stabilizers (Cromolyn ??)
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The patient is based at Chembur, Mumbai, India
There is no familial incidence but at the time of his birth (by C-section) his mother had acute allergy at the site of the incision/sutures (attributed at that time to allergy to latex or Betadine i.e. Povidone Iodine) -- this lasted about 7 days.
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Please direct your response/diagnosis to: contact@rarediseasesindia.org