En nuestra profesión, la curiosidad científica es algo inherente y casi imprescindible para disfrutar de su ejercicio. El deseo de averiguar la causa de algo que no entra dentro de la normalidad, constituye el motor que nos permite abandonar nuestros límites, dispuestos a explorar y conocer más sobre el tema en busca de una respuesta.

 

El laboratorio nos ofrece la oportunidad de utilizar la curiosidad a modo de herramienta para encontrar respuestas y a la vez expandir el conocimiento y experiencia adquiridos a nuestro entorno.

Figure 1. Example of gout crystals (monosodium urate crystals) visualized (40x objective) under polarized light with red compensator (black arrow indicates the axis of the compensator).

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Synovial fluid (SF), is a dialysate of plasma that internally covers the cavities of synovial joints. It is formed by ultrafiltration of plasma in the synovial capillaries.

There are two types of cells on the synovial lining known as type "A" and "B" synoviocytes. The type A cells have phagocytic functions while the type B cells with secretion functions, add to the SF among other substances, mucopolysaccharides with high hyaluronate content that gives it the characteristic viscosity.

We present an image of a peripheral blood smear, stained with May-Grünwald Giemsa (Figure 1). This picture shows erythrocytes with multiple inclusions of bluish, small and irregular granules that occupy a portion of the red blood cell. The inclusions described are also observed in erythroblasts, adopting a perinuclear disposition. These granules, suggestive of Pappenheimer bodies, are morphologically different from other visible inclusions with the same type of staining (Howell-Jolly and basophilic stippling). This corresponds to intracellular iron deposits which were evidenced later by Perls staining (Figure 2).

Figure 1. Result of MLPA of the patient´s DNA with suspected AME type I. A homozygous deletion (exons 7 and 8) is observed of SMN1 gene (0 copies), as well as four copies for the SMN2 gene. Thus, the diagnostic suspicion is confirmed.

It is presented the diagnosis of Spinal Muscular Atrophy (AME in Spanish language) performed in the Molecular Genetics laboratory by means of an MLPA study (Multiplex Ligations Probe Amplification) by SALSA MLPA-P060-B2 (MRC-Holland®, Netherlands), furthermore SALSA MLPA-P021 is used to confirm the diagnosis(1). This method allows us to know the copy number of the survival genes of the motor neuron (SMN1 and SMN2) in a fast and reliable way (95% sensitivity and 100% specificity).

Figure 1. Scattergram WDF (WBC differential) (a) y WNR (white cell nucleated) (b) where the erythroblasts population is indicated.

We present the case of a 40-year-old male patient from Mali who routinely visits his health center.

In the complete blood count highlights a hemoglobin of 14.1 g/dL (Reference Value [RV]: 13.5-17.2) with an erythrocytosis (5.58 x106 RBC/ul, RV: 4-5) and a decreased Mean Corpuscular Volume [MCV](71.3 fL; RV: 80-100) and Mean Corpuscular Hemoglobin [MCH] (25 pg; RV: 27-33). Iron profile was normal.