ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation.

Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye syndrome chromosome region candidate 1 (CECR1) gene, currently named ADA2. The disease has a wide clinical spectrum encompassing early-onset vasculopathy (targeting skin, gut and central nervous system), recurrent fever, immunodeficiency and bone marrow dysfunction. Different therapeutic options have been proposed in literature, but only steroids and anti-cytokine monoclonal antibodies (such as tumor necrosis factor inhibitor) proved to be effective. If a suitable donor is available, hematopoietic stem cell transplantation (HSCT) could be curative. Here we describe a case of ADA2 deficiency in a 4-year-old Caucasian girl. The patient was initially classified as autoimmune neutropenia and then she evolved toward an autoimmune lymphoproliferative syndrome (ALPS)-like phenotype. The diagnosis of ALPS became uncertain due to atypical clinical features and normal FAS-induced apoptosis test. She was treated with G-CSF first and subsequently with immunosuppressive drugs without improvement. Only HSCT from a 9/10 HLA-matched unrelated donor, following myeloablative conditioning, completely solved the clinical signs related to ADA2 deficiency. Early diagnosis in cases presenting with hematological manifestations, rather than classical vasculopathy, allows the patients to promptly undergo HSCT and avoid more severe evolution. Finally, in similar cases highly suspicious for genetic disease, it is desirable to obtain molecular diagnosis before performing HSCT, since it can influence the transplant procedure. However, if HSCT has to be performed without delay for clinical indication, related donors should be excluded to avoid the risk of relapse or partial benefit due to a hereditary genetic defect.

Telemedicina no diagnóstico de doença linfoproliferativa num contexto de recursos limitados / Telemedicine in the diagnosis of lymphoproliferative disease in a context of limited resources

Os autores reportam um caso de Leucemia Linfoblástica Aguda - L1 da classificação Francesa ­ Americana ­ Britânica, numa criança moçambicana cujo diagnóstico específico foi confirmado através de consulta por via electrónica,realizada por um hospital rural em Moçambique e por um oncologista pediátrico num outro continente. A criança de 7 anos foi admitida ao hospital com um quadro grave de anemia, descompensação cardiorrespiratória secundária, febre, diarreia, linfadenopatias cervicais, hepatoesplenomegalia e leucócitemia de 120 x 103/mm3 (84.4% linfócitos). Apesar de o Hospital Rural em Moçambique dispor de recursos limitados, foi feito um diagnóstico definitivo e célere graças a troca de imagens do esfregaço de sangue periférico do paciente, sistematicamente gravadas com recurso a uma câmara fotográfica. As consultas à distância utilizando meios electrónicos permitiram para além do diagnóstico, a formação em serviço, do pessoal local através das orientações sobre condutas essenciais para correcta estabilização clínica do paciente. Este caso sugere a telemedicina como um mecanismo potencial de apoio dos hospitais especializados aos hospitais rurais, ajudando jovens profissionais no manejo de casos complexos. A sua aplicação deve ser estudada para orientar o seu uso correcto, informado e extensivo.

Thisis a report of a case of acute lymphoblastic leukemia - L1 French-American-British classification, in a Mozambican child, whose specific diagnosis was possible and confirmed through electronic consultation by a pediatric oncologist from another continent. The 7 year old child was admitted to hospital with severe anemia, secondary cardiac decompensation, fever, diarrhea, cervical lymphadenopathy, hepatosplenomegaly and white blood cells of 120 x 103/mm3 (84.4% lymphocytes). Despite the fact that rural hospitals in Mozambique have extremely limited resources, a specific diagnosis was made through exchange of systematically recorded pictures of patient's peripheral blood smears. The consultation by distance also allowed in-service training of local staff by sharing guidelines on essential conducts for proper clinical stabilization of the patient. This case suggests a potential means to deliver support from specialized hospitals to rural hospitals, helping young professionals in management of complex cases. Its application should be studied to guide proper, informed and possibly an extensive use.