Background and Aims

Acute lymphoblastic leukemia (ALL) is the most common childhood malignant disease. The definitive diagnosis is frequently delayed when it is mistaken with juvenile idiopathic arthritis (JIA).

Methods

Through our case reports we aim to emphasizes the importance of early bone marrow examination if there are any atypical features of JIA.

Results

We would like to present three cases with ALL, initially diagnosed as JIA. First case, a girl 4 years old, presented with talocrural articulation pain. Her hematological variables were normal. No improvement with AIJS. The rheumatologist of adults thinking for atypical JIA treated her with corticotherapy and methotrexate. After 10 months clinical situation worsened and her hemograme presented severe pancytopenia.

Second case, a girl 2 years old presented to the orthopedist with limb pain. Good answer initially with AIJS, but relapse in three months. The work-up shows severe thrombocytopenia, leukocytosis, lymphocytosis and LDH elevation.

Bone marrow examination established diagnosis of ALL for all cases. For the first case, it was necessary bone marrow transplantation, because of the resistance to chemotherapeutic agents.

Conclusions

A paediatric rheumatologist should be involved early in the assessment of children with arthritis. Hematologic malignancies must be excluded before initiation of therapy for atypical JIA. Thrombocytopenia, anemia, lymphocytosis and increased LDH are suggestive for malignancy.

Background and Aims

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the gene for Bruton tyrosine kinase, resulting in an increased susceptibility to a variety of infections. Vaccine-associated paralytic poliomyelitis (VAPP) is a rare adverse event of Oral Polio Vaccine (OPV) due to mutation or reversion of the vaccine virus to a more neurotropic form.

Methods

Through our case report we would like to highlight that VAPP may be a first presentation of X-linked agammaglobulinemia.

Results

A 5 month old boy presented at our hospital with fever, irritability, generalized hypotonia and abdominal breathing fifteen days after the second dose of OPV. No previous infections before the vaccination. The initial cerebrospinal fluid examination showed pleocytosis (196mm3); lymphocytosis 95% and neutrophils 5%. The electro-diagnostic (ENG) examination of the right leg indicated remote distal axonal neuropathy of the deep peroneal nerve. No abnormalities were observed in the brain and spinal MRI. His first faecal specimen was positive for Sabin type 3 strains. Laboratory evaluation revealed low levels of IgM, IgA. CD19+B and CD20+B cells were less than 1% of the lymphocyte population. The BTK gene analysis of the patient’s DNA revealed the presence of the mutation c.[1922G>A] p.[R641H].

Conclusions

A negative history for recurrent infections does not exclude the presence of a primary defect in the immune system. VAPP may be the first presentation of some primary immunodeficient patients. Introduction of neonatal screening programs for some immune deficiency states, such as SCID and XLA, could help in preventing an inadvertent exposure of affected patients to OPV.