ABSTRACT
INTRODUCTION: Haemophagocytic syndrome (HS) is a common manifestation of several congenital disorders characterised by a disruption of lysosomal secretion, interrupting the cytolytic pathway and triggering a dysfunction in the immune synapse. In this situation, the recognition of certain extra-immunological manifestations may help in the diagnostic process. PATIENTS AND METHODS: We describe the clinical and biological features present in two brothers with familial haemophagocytic lymphohistiocytosis type 3 (FHL-3), two patients with Griscelli syndrome type 2 (GS-2) and one patient with Chédiak-Higashi syndrome (CHS). RESULTS: Mutational assays at UNC13D were carried out on two brothers after diagnosing an early onset HS in the first one, yielding a positive result in both cases with a consequent diagnosis of FHL-3. The diagnosis of GS-2 was supported by positive results of mutational Rab27A studies in one patient with HS and abnormal pigmentation, and in her cousin who was affected by a similar abnormal pigmentation. The diagnosis of CHS was established in one patient with HS, abnormal pigmentation and atypical granules on cytological examination of a bone marrow smear. Diagnosis was confirmed in this patient by the finding of a homozygous LYST mutation. CONCLUSIONS: We point out the importance of recognising the presence of typical extra-immunological manifestations of certain congenital disorders of lysosome secretion in patients diagnosed with HS. The association of albinism and immunodeficiency has played a critical role in the recent identification of the molecular mechanism involved in these disorders.
Subject(s)
Chediak-Higashi Syndrome , Immunologic Deficiency Syndromes , Lymphohistiocytosis, Hemophagocytic , Lysosomal Storage Diseases , Piebaldism , Antigen-Presenting Cells , Chediak-Higashi Syndrome/diagnosis , Chediak-Higashi Syndrome/genetics , Chediak-Higashi Syndrome/immunology , Child , Child, Preschool , Humans , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/genetics , Immunologic Deficiency Syndromes/immunology , Infant , Lymphocytes , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/genetics , Lymphohistiocytosis, Hemophagocytic/immunology , Lysosomal Storage Diseases/diagnosis , Lysosomal Storage Diseases/genetics , Lysosomal Storage Diseases/immunology , Piebaldism/diagnosis , Piebaldism/genetics , Piebaldism/immunology , Primary Immunodeficiency DiseasesABSTRACT
Community Acquired Pneumonia (CAP) is a common childhood disease, involving several paediatric subspecialties in its diagnosis and treatment. This has prompted the Spanish Society of Paediatric Pulmonology (SENP) and the Spanish Society of Paediatric Infectious Diseases (SEIP) to prepare a consensus document on the diagnosis of CAP, assessing the practical aspects by means of evidence-based medicine. It discusses the aetiology and epidemiology, with the current changes and the validity of certain laboratory tests, such as acute phase reactants, microbiological and imaging techniques, guiding the paediatricians in the real value of these tests.
Subject(s)
Pneumonia/diagnosis , Pneumonia/microbiology , Adolescent , Child , Child, Preschool , Community-Acquired Infections/diagnosis , Community-Acquired Infections/microbiology , Female , Humans , Infant , MaleSubject(s)
Hepatitis A Virus, Human/immunology , Hepatitis A/diagnosis , Hepatitis A/physiopathology , Lung/immunology , Animals , Autoimmunity , Child , Diagnosis, Differential , Disseminated Intravascular Coagulation , Exanthema , Hepatitis A/immunology , Hepatitis A/pathology , Hepatitis A Virus, Human/pathogenicity , Humans , Hypoproteinemia , Lung/diagnostic imaging , Lung/virology , Male , Pleural Effusion , Radiography , Thrombocytopenia , UltrasonographyABSTRACT
Tuberculosis due to Mycobacterium bovis is a common disease in developing countries, due to its reservoir and most common forms of transmission. Extrapulmonary cases are not uncommon. This fact and the exceptional nature of this mycobacterium, make the diagnosis difficult in our environment. The arrival of migrants from developing countries, where affected cattle and ingestion of contaminated products are frequent, we must be on the alert for an early diagnosis and adequate treatment. We report three cases diagnosed in our region, both with extrapulmonary presentations (cervical lymphadenitis and abdominal tuberculosis), and analyze the present situation of this illness in Spanish livestock, and the influence of immigration on it.
