immunodeficiency

One year old boy referred as a case of wiskott aldrich syndrome for work up .
He was first born child to young muslim parents .
Elder brother of mother died at seven years ,the details of which mother doesn't know, Her younger
brother started having recurrent infections and bleeding since early months. He survived up to 13 year
Her work up was done in CMC vellore . He was diagnosed as a case of wiskott aldrich syndrome. Bone marrow
transplantation planned but not done as they didn't get a donor. By that time he succumbed to
non hodgkin lymphoma . With this history parents thought the elder brother also had the same illness
retrospectively.
One important point is genetic studies of this patient case was negative for Wiskott aldrich syndrome
Our one year old boy was born at term normal delivery with 2.8kg birth weight . His postnatal period
normal and was perfectly normal up to six months. At six months he was hospitalised for fever cough
with mild dyspnea which was not sever. He had one more episode this month which responded to
oral antibiotics, but the pediatrician referred to our institution as he noticed some skin lesions on his
back and there was a strong family history of wiskott aldrich syndrome .He was already put on
long term co trimoxazol.
No history of ear discharge,persistent purulent nasal discharge ,loose stools oral lesions..
No bleeding manifestations . Umbilicus fell normally and he had intramuscular injections
during immunisation without undue bleed or welling .
He was fully immunised.

On examination

this boy was thriving well ,normal development in all fields .

General examinations

Vitals stable.Weight and length adequate for age
Focus of infections bacterial ,fungal were not there.
Examination for stigmata suggestive of primary immunodeficiency were looked for. (Like hair changes.
Telangiectasia ,nail changes. Dysmorphism. In short he is just a normal boy
He had skin lesions on the back ,and abdomen. Please have a look at the photo now .This showed
hypopigmented lesions with vague margins . No scaling .Skin was intact. No itching. Skin in between
was normal .

System examinations 

were within normal limits.

To sum up ..Here is a kid referred as a case of immunodeficiency , parents anxious as there is a
strong family history of two maternal uncles affected with immunodeficiency and bleeding which are
well known features of an entity with immunodeficiency.So there is every reason for their worry.
But as a physician we have to go systematically
Here we were discussing the case both for and against to decide about the further plan.
Decisions are double edged

On one side

 If we take a decision to workup it involve lot of money which the parents can't afford .

( of course few of the basic investigations which are simple may give a very useful clue and we may
narrow down the possibility and we can ask for specific investigation to confirm which ll help to cut
down the cost. But this is not the case in most of the cases )
Few of the investigations are invasive.Nowadays  most of us like to remain on the safer side and over
investigate .Should we do  just to prevent allegation or satisfy our academic enthusiasm ?

Other side. 

If we take a decision not to investigate and miss the diagnosis allegations likely and he

may develop some complications in between like a serious bleed infection or malignancy .
Are we dealing with a case of immunodeficiency . Only if the answer is yes we need to proceed
beyond the basic investigations to the costl ones.
There is other side of argument. There is strong family history of bleed, skin lesion and recurrent
infections and he died of lymphoma. The case was worked up in an institute with world class facilities
and experts. Wiskott aldrich was diagnosed and planned to do Bone marrow. One more uncle died
almost same history .This boy is having skin lesions and two episodes of respiratory infection.
What more do you want to support the diagnosis of Wiskot aldrich ?

Here we go forward unbiased

First question is. If we ignore the family history , rest of the history or examinations support the possibility of immunodeficiency.?
He was perfectly normal up to six months.
Only one significant pneumonia at six months .
Now he is thriving well.
No bleeds ,
No infection other sites.
No stigmata suggestive any inherited immunodeficiency
The skin lesion, is not eczema.The skin lesion is seen commonly in normal kids which
disappear without any treatment Pityriasis most likely
One more argument which support our view was, genetic study of the uncle died with clinical
diagnosis did nt support wiskott aldrich.What is the chance of false negativity of a molecular genetic
study ?

Counter argument ..

OK , may be it is not wiskott aldrich. I agree genetic diagnosis to be given more weightage.
But how can we ignore the strong positive family history. The sex linked recessive pattern.
Recurrent infection ,bleed and malignancy developing ?
Again the other view.
“ Ok agreed. But our patient so far didn't have bleed, infections does nt seem to be significant.
He is thriving perfect ..
With these  opposing views we decided to do just the basic investigations. Blood count and peripheral
smear
We didn't ask for estimation of antibodies , they are costly , and reserved for next level
Peripheral smear . please see the photo
The platelet number is normal and morphology is normal,
Now with the investigation. Which of the above opposing arguments weighs more ? which way to
move.?
We gave more weight for the clinical features and the basic investigations.
Reviewing the history ,the infections were not significant enough to brand it as immunodeficiency.
Baby did nt have significant bleed so far
Investigations the platelet number and morphology seemed normal according to pathologist

So what did we decide ?

1. We Stopped cotrimoxazol

2. We decided to follow up the patient

Like to hear your views