© Borgis - Postępy Nauk Medycznych 6/2016, s. 410-413
Alicja Sapała-Smoczyńska1, 2, *Teresa Jackowska1, 2, Piotr Hartmann1, 2, Bartosz Siewert3
An ordinary infection, an extraordinary patient [ndash] X-Linked Agammaglobulinemia (Bruton disease) case report**
Zwykła infekcja, niezwykły pacjent – opis przypadku agammaglobulinemii sprzężonej z chromosomem X (Brutona)
1Department of Pediatrics, Centre of Postgraduate Medical Education, Warsaw
Head of Department: prof. Teresa Jackowska, MD, PhD
2Department of Pediatrics, Father Jerzy Popiełuszko “Bielański” Hospital, Independent Public Health Care Institution in Warsaw
Head of Department: prof. Teresa Jackowska, MD, PhD
3Student Research Circle, Department of Pediatrics, Centre of Postgraduate Medical Education, Warsaw
Head of Circle: Piotr Hartmann, MD
W pracy opisano przypadek pacjenta, który został przyjęty do oddziału pediatrii w trybie dyżurowym z powodu gorączki i wymiotów. W czasie hospitalizacji rozpoznano u niego agammaglobulinemię sprzężoną z chromosomem X (Brutona). W badaniach laboratoryjnych stwierdzono leukopenię z neutropenią, podwyższone stężenie wykładników stanu zapalnego, hipokaliemię. Stan chłopca poprawił się po nawodnieniu doustnym i dożylnym oraz suplementacji potasu. Jednak w badaniach kontrolnych wykładniki stanu zapalnego znacznie narosły. Empirycznie do leczenia włączono cefotaksym. Po kolejnych dwóch dniach z posiewu krwi wyhodowano Pseudomonas aeruginosa. Zmieniono leczenie na meropenem z amikacyną. W czasie hospitalizacji chłopiec skarżył się na ból podczas defekacji. W badaniu ultrasonograficznym jamy brzusznej uwidoczniono niewielką ilość płynu zapęcherzowo. Kontrolne badanie morfologii oraz wykładniki stanu zapalnego były prawidłowe. Ze względu na zakażenie uogólnione Pseudomonas aeruginosa, z obecnością ropnia okołoodbytniczego, wysunięto podejrzenie zaburzenia odporności humoralnej. Oznaczono poziom immunoglobulin, których stężenia były poniżej czułości metody. Chłopca przekazano do Poradni Immunologicznej z podejrzeniem agammaglobulinemii Brutona.
W przypadku zakażenia bakterią, która jest „nietypowa” dla dzieci bez zaburzeń odporności, konieczna jest dalsza diagnostyka celem wykluczenia zaburzeń odporności komórkowej i humoralnej.
In this article a case is presented in which a patient was admitted on an emergency basis to a paediatric department with fever and emesis. During hospitalization X-linked agammaglobulinemia (Bruton disease) was diagnosed. Laboratory testing revealed leukopenia with neutropenia, inflammatory markers elevation and hypokalemia. The general condition of the patient improved after performing oral and intravenous hydration, and potassium supplementation. However, control tests showed significant inflammatory markers elevation. Cefotaxime was included in the therapy on an empirical basis. After two subsequent days Pseudomonas aeruginosa was cultivated from blood culture. The treatment was switched to meropenem with amikacin. During hospitalization the boy complained about painful defecation. Abdominal cavity ultrasound examination revealed a slight amount of retrovesical fluid. The results of a full blood exam and inflammatory markers test were normal. Taking into consideration generalized Pseudomonas aeruginosa infection and the presence of perianal abscess, humoral immunity disorder was proposed. Immunoglobulins level were measured and their concentrations were below the sensitivity threshold of the method used. The patient was assigned to immunology outpatient clinic with the suspicion of Bruton agammaglobulinemia.
In the case of infection with the bacteria which is “unusual” for paediatric patients without immunity disorders, further diagnostics is necessary in order to rule out humoral and cellular immunity disorders.
Bruton agammaglobulinemia is a disease linked to the X chromosome which belongs to the wide group of primary immunodeficiencies, which includes more than 240 diseases (1). The most common disease of this group is immunoglobulin A (IgA) deficiency, which appears, depending on the region, in 1/223 to 1/3230 cases, and more often in Caucasian race (1). X-Linked Agammaglobulinemia (XLA) was described for the first time in 1952 by Bruton (2), and for this reason, it is commonly referred to as Bruton agammaglobulinemia. XLA occurs very rarely [ndash] in 1/200 000 of live births (1).
A patient aged 2 years and 4 months was admitted in an emergency to a paediatric department with fever and emesis, lasting for seven days. The patient complained about pain in the anus region which was linked to suppositories administration. Moreover, the boy had symptoms of upper respiratory tract infection, which was treated ambulatory and symptomatically. According to the patient’s mother, there were symptoms of gastroenteritis among house-dwellers at the time.
The paediatric patient was born as a first child in 38th week of pregnancy with weight of 2640 g, length of 50 cm and rated 10 points in Apgar score. In the first year of life the patient was vaccinated according to obligatory protective vaccination program. In the second year of life the patient was not vaccinated against measles, mumps and rubella due to the fact that he was disqualified by a neurologist. According to the patient’s mother, the reason was six cafe-au-lait spots on his trunk. Among the obligatory vaccinations, the patient received rotavirus, pneumococcus and varicella vaccinations. The patient has been hospitalized twice. The first hospitalization took place in the 6th week of life due to axillary and cervical lymph nodes enlargement, and anaemia. At the time only anti-anaemia treatment was recommended. Afterwards, the patient was hospitalized at the age of 1.5 years due to gastroenteritis. At that time high levels of inflammatory markers were observed. Due to the suspicion of infection of Salmonella etiology, a treatment with third-generation cephalosporin was performed. Also, a hard to heal skin lesion on the right shin was described, which was linked to an insect bite.
During the described (third) hospitalization, the paediatric patient was admitted in an average general condition. He was anxious, tearful and had fever with the temperature up to 38.9°C. Physical examination revealed redness inside the throat, enlarged palatine tonsils with mucous residue and large amount of mucous secretions in the nose. The skin in the anus region was reddened. On the skin of the left wrist a single cafe-au--lait lesion was noted as well as the scar on the right shin. Psychomotor development of the patient was found to be proper, as well as a family medical survey which showed no burden.
Laboratory testing performed at the admission day revealed leukopenia (3.0 thousands/μl) with neutropenia (0.13 thousands/μl), without anaemia and thrombocytopenia as well as increased concentration of acute phase protein (CRP – 74.2 mg/l) (laboratory standard) and procalcitonin (PCT – 3.64 ng/ml) (laboratory standard). After performing oral and intravenous hydration, the general health condition of the pediatric patient rapidly improved. Fever subsided and the patient became more lively.
In the second day of hospitalization performed control tests showed significant increase in inflammatory markers (CRP – 235.98 mg/l; PCT – 6.50 ng/ml). The blood sample taken at the admission showed growth of the bacteria which cause granulomas. Generalized infection was diagnosed and because of the presence of gastroenteritis symptoms among the house-dwellers of the patient, there was a Salmonella infection suspicion. Third generation cephalosporin (cefotaxime) was included in the treatment regimen.
A full blood exam performed in the third day of the hospitalization enabled to diagnose leukocytopenia and granulocytopenia (leukocytes – 12.0 thousands/μl; neutrophiles – 2.84 thousands/μl) and lowered level of inflammatory markers (CRP – 97.32 mg/l; PCT – 3.39 ng/ml). Bacteria cultured from the blood sample was identified as Pseudomonas aeruginosa (P. aeruginosa). A decision was made with regard to changing the antibiotic prescribed to cephalosporin with bactericidal effect against P. aeruginosa (ceftazidime). On the same day the paediatric patient began to report pain in the anus area during defecation. An ultrasound examination of the abdominal cavity confirmed the presence of perianal abscess (fig. 1).
Fig. 1. A slight amount of retrovesical fluid, up to 10 mm
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