Diagnosis of Immunodeficiency syndrome. ( Bruton’s agammaglobulinemia ) Child.

 

 

History of Present illness

Patient : Tuhin sarkarAge €” 4.5 year DOB €” 25th Jan 2003Sex €” MalePlace –
India

Symptomatic €” Since 7th month of life developed fever with loose stools, diagnosed as UTI with SEPSIS ( Ecoli Sepsis & UTI ) another episode of fever with loose stool 15 days back. Same episode repeated given i/v antibiotics. 1 month later again the same episode got repeated, This time he was diagnosed Immunodeficiency syndrome. ( Brutons Ds).

 

Since then child started receiving regular IVIG infusions ( 5 gms per month ) along with Uroprophylesis ; now about two years back May 06 child started having symptoms of failure to thrive & persistent cough. Child had multiple visits to hospital treated with oral as well as I/V antibiotics. Along with that for moderate degree of GERD. In view of persisting Symptoms further work up was done which revealed growth hormone deficiency in year 2007 as probable cause for failure to thrive. Growth Harmone Supplement was started – Pfizer Genotropin. (1iu 6/7 )

 

Now child has been admitted since 1/8/07 with increasing chest symptoms, unlike previous episode in once per month lasting for 3 -4 days and subsiding on oral augmentin & nebulization , this admission had rapid downhill course from significant oxygen requirement to ventilation with respiratory paralysis. Currently he is being ventilated at moderate pressures with FiO2 ~ 50%.

 

Birth History & Development €” SIB Death at 1.5 year well thriving child died of ? Encephalitis .

Important Investigation €”

19/01/2004 7.5.2005 3/3/2007 20.2.2007

IgG

5.525 g/L

< 2.9 g/ L

< 237 mg%

IgA

< 0.221 g/L

< 0.2 g/L

< 37 mg%

IgM

< 0.168 g/L

< 0.23 g/L

< 20 mg%

 

20 €” 27 /2/ 2007 13.6.07

DMSA

Bilaterally good cortical function and no evidence of cortical scarring

Bilaterally good cortical function and no evidence of cortical scarring

DTPA

Bilaterally good cortical with unobstructed drainage

MCU

Normal Study

GER

Scintigraphic findings are suggestive of presence of mild GER in the study

HRCT

Normal Study

 

 

 

Date 3.3.07

Sweat Chloride

47 mEq/lt

Mutational Analysis

Stool for Fats ( Fat Globules)

> 200 / HPF

 

Deuodenal Biopsy

 

T3 / T4 / TSH

1.92 / 134.1 / 1.72

 

USG

Normal Study

 

Please suggest course of medication and medicines