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