BRUTONS AGAMMAGLOBULINEMIA-A RARE AND CHALLENGING
DIAGNOSIS IN ROMANIA
Milea J, Andreica M, Pop V
Pediatric Clinic II, Cluj-Napoca, Romania
Objective:
We present the case of a 6 year old boy
admitted in our hospital in June 2000 for the elucidation of the cause of
repeated respiratory and otic infections. At 4 months he was diagnosed with
bronchial asthma, and although he continued to present extremely frequent
episodes of bronchiolitis, pneumonia, otitis media, at least one episode
each month, the diagnosis of an immune deficiency was not suspected until
the admission in our hospital.
Methods: The clinical examination revealed a child with
ponderal and statural deficiency (weight:15 kg, ponderal index 0.78,
height:100cm),signs of bronchopneumonia, purulent otitis media, vitiligo.
The superficial lymph nodes were not palpable. The bronchopneumonia was
confirmed by radiological imaging. The bone age was delayed at 2.5 years.
We suspected an immune deficiency and we performed quantitative
determination of immunoglobulins (Ig G:0 mg%, IgA:0 mg%, IgM:0mg%,
IgE:0.07UI/ml), total proteins: 5.5g%(Albumins:69, a1=4,a2:14,β1:10,β2:3,γ:0%). For the
differential diagnosis we performed HIV
antibodies: negative, Cl in sweat: 12.3 mEq/l, IDR Mantoux negative.
Results: The examinations led to the diagnosis of
Brutons agammaglobulinemia with typical manifestations of repeated
infections especially of the respiratory tract.
Conclusion: Being a rare disease, Brutons
agammaglobulinemia is sometimes not suspected by physicians even in the
settings of multiple infections. Even without possibilities of genetic
determinations the diagnosis can be established and proper treatment leads
to very good results.