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1.
Pediatr Rheumatol Online J ; 19(1): 104, 2021 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-34193201

RESUMEN

BACKGROUND: H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 (SCL29A3) gene. It has a variable clinical presentation and little phenotype-genotype correlation. The pathognomonic sign of HS is cutaneous hyperpigmentation located mainly in the inner thighs and often accompanied by other systemic manifestations. Improvement after tocilizumab treatment has been reported in a few patients with HS. We report the first patient with HS who presented cardiogenic shock, multiorgan infiltration, and digital ischemia. CASE PRESENTATION: 8-year-old boy born to consanguineous parents of Moroccan origin who was admitted to the intensive care unit during the Coronavirus Disease-2019 (COVID-19) pandemic with tachypnoea, tachycardia, and oliguria. Echocardiography showed dilated cardiomyopathy and severe systolic dysfunction compatible with cardiogenic shock. Additionally, he presented with multiple organ dysfunction syndrome. SARS-CoV-2 polymerase chain reaction (PCR) and antibody detection by chromatographic immunoassay were negative. A previously ordered gene panel for pre-existing sensorineural hearing loss showed a pathological mutation in the SCL29A3 gene compatible with H syndrome. Computed tomography scan revealed extensive alveolar infiltrates in the lungs and multiple poor defined hypodense lesions in liver, spleen, and kidneys; adenopathy; and cardiomegaly with left ventricle subendocardial nodules. Invasive mechanical ventilation, broad antibiotic and antifungal coverage showed no significant response. Therefore, Tocilizumab as compassionate use together with pulsed intravenous methylprednisolone was initiated. Improvement was impressive leading to normalization of inflammation markers, liver and kidney function, and stabilising heart function. Two weeks later, he was discharged and has been clinically well since then on two weekly administration of Tocilizumab. CONCLUSIONS: We report the most severe disease course produced by HS described so far in the literature. Our patient's manifestations included uncommon, new complications such as acute heart failure with severe systolic dysfunction, multi-organ cell infiltrate, and digital ischemia. Most of the clinical symptoms of our patient could have been explained by SARS-CoV-2, demonstrating the importance of a detailed differential diagnosis to ensure optimal treatment. Although the mechanism of autoinflammation of HS remains uncertain, the good response of our patient to Tocilizumab makes a case for the important role of IL-6 in this syndrome and for considering Tocilizumab as a first-line treatment, at least in severely affected patients.


Asunto(s)
Cardiomiopatía Dilatada/fisiopatología , Enfermedades Autoinflamatorias Hereditarias/fisiopatología , Isquemia/fisiopatología , Insuficiencia Multiorgánica/fisiopatología , Choque Cardiogénico/fisiopatología , Anticuerpos Monoclonales Humanizados/uso terapéutico , COVID-19 , Cardiomiopatía Dilatada/diagnóstico por imagen , Cardiomiopatía Dilatada/terapia , Niño , Glucocorticoides/uso terapéutico , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Enfermedades Autoinflamatorias Hereditarias/genética , Enfermedades Autoinflamatorias Hereditarias/terapia , Humanos , Isquemia/terapia , Enfermedades Renales/diagnóstico por imagen , Enfermedades Renales/fisiopatología , Enfermedades Renales/terapia , Hepatopatías/diagnóstico por imagen , Hepatopatías/fisiopatología , Hepatopatías/terapia , Enfermedades Pulmonares/diagnóstico por imagen , Enfermedades Pulmonares/fisiopatología , Enfermedades Pulmonares/terapia , Linfadenopatía/diagnóstico por imagen , Linfadenopatía/fisiopatología , Linfadenopatía/terapia , Masculino , Metilprednisolona/uso terapéutico , Insuficiencia Multiorgánica/terapia , Proteínas de Transporte de Nucleósidos/genética , Quimioterapia por Pulso , Respiración Artificial , SARS-CoV-2 , Choque Cardiogénico/terapia , Enfermedades del Bazo/diagnóstico por imagen , Enfermedades del Bazo/fisiopatología , Enfermedades del Bazo/terapia , Dedos del Pie/irrigación sanguínea , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
2.
Lab Med ; 51(4): 423-425, 2020 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-31860089

RESUMEN

Benign pancreatic hyperenzymemia, also known as Gullo's syndrome, is a little-known syndrome first described in 1996 in patients studied for an elevation of pancreatic enzymes while otherwise being asymptomatic. We describe the case of a 2-year-old patient who was found to have significant elevation of amylase and lipase levels while he was asymptomatic. Blood tests and imaging tests were performed to determine the etiology, but they gave normal results. The enzyme elevation can even be 10 times the normal value of the enzyme, and only 1 enzyme may elevate, although most often all pancreatic enzymes are elevated. The etiology is not known, although several hypotheses have been suggested. This enzyme elevation is described both in adults and children and also sporadically or with a familial pattern. Knowledge of it can limit the performance of the multiple complementary test, some of which are very invasive in patients who have elevated pancreatic enzymes while they are asymptomatic. It knowledge allows us to confirm a benign prognosis about it and reassure the family about this disease and that in the end it will not require aggressive treatments such as surgery or chemotherapy.


Asunto(s)
Amilasas/sangre , Lipasa/sangre , Enfermedades Pancreáticas/enzimología , Amilasas/orina , Enfermedades Asintomáticas , Preescolar , Humanos , Lipasa/orina , Masculino , Enfermedades Pancreáticas/sangre , Enfermedades Pancreáticas/diagnóstico , Enfermedades Pancreáticas/orina
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