Síndrome de microdeleción 22q11: manifestaciones cardiorrespiratorias y utilidad de la fibrobroncoscopia / 22Q11 microdeletion syndrome: cardiorespiratory symptoms and fibrobronchoscopy

La microdeleción 22q11 es una deleción genética frecuente con variabilidad fenotípica amplia. Engloba una serie de síndromes, entre los que destaca el síndrome de DiGeorge. Las manifestaciones clínicas más frecuentemente descritas son malformaciones cardiacas, una facies característica, malformaciones palatinas, hipoparatiroidismo, inmunodeficiencia secundaria a hipoplasia tímica, retraso psicomotor y alteraciones psiquiátricas. Dentro de los signos producidos por la enfermedad, es frecuente la insuficiencia respiratoria de causa multifactorial. Las malformaciones de la vía aérea son frecuentes, aunque en la mayoría de los pacientes son leves, por lo que no suelen producir sintomatología. Sin embargo, en algunos casos pueden condicionar clínica respiratoria grave. Los casos clínicos presentados ilustran la importancia de la valoración precoz de la vía aérea mediante fibrobroncoscopia en pacientes con microdeleción 22q11 que presentan dificultad respiratoria recurrente(AU)

The 22q11 deletion syndrome is a frequent contiguous-gene deletion syndrome. This disorder has a broad spectrum of phenotypic manifestations. It includes various syndromes such as DiGeorge syndrome. The most frequent clinical manifestations are congenital cardiac defects, characteristic facies, palate malformations, hypoparathyroidism, immunodeficiency due to thymic hypoplasia, growth retardation, and behavioural and psychiatric problems. Among the symptoms observed, many patients suffer from respiratory insufficiency or failure. The origin is often multifactorial. Structural airway abnormalities are frequently found in this syndrome. In many of these patients the malformation is mild or non-existent, and remains asymptomatic. However, in some cases it can cause a severe respiratory insufficiency, being diagnosed when other disorders are ruled out. These cases illustrate the importance of early visualisation of the airway by fibrobronchoscopy in the management of the patient with 22q11 deletion syndrome who has recurrent respiratory difficulties(AU)

[22Q11 microdeletion syndrome: cardiorespiratory symptoms and fibrobronchoscopy]. / Síndrome de microdeleción 22q11: manifestaciones cardiorrespiratorias y utilidad de la fibrobroncoscopia.

The 22q11 deletion syndrome is a frequent contiguous-gene deletion syndrome. This disorder has a broad spectrum of phenotypic manifestations. It includes various syndromes such as DiGeorge syndrome. The most frequent clinical manifestations are congenital cardiac defects, characteristic facies, palate malformations, hypoparathyroidism, immunodeficiency due to thymic hypoplasia, growth retardation, and behavioural and psychiatric problems. Among the symptoms observed, many patients suffer from respiratory insufficiency or failure. The origin is often multifactorial. Structural airway abnormalities are frequently found in this syndrome. In many of these patients the malformation is mild or non-existent, and remains asymptomatic. However, in some cases it can cause a severe respiratory insufficiency, being diagnosed when other disorders are ruled out. These cases illustrate the importance of early visualisation of the airway by fibrobronchoscopy in the management of the patient with 22q11 deletion syndrome who has recurrent respiratory difficulties.

Terlipresina como tratamiento de rescate de las crisis hipoxímicas en la tetralogía de fallot / Terlipressin as rescue therapy in hypercyanotic spells of fallot tetralogy

Las crisis hipoxémicas, especialmente frecuentes en la tetralogía de Fallot, son una emergencia médica, que pueden originar secuelas neurológicas o incluso la muerte. Se producen por una disminución drástica del flujo pulmonar, con aumento de shunt derecha-izquierda y caída de la saturación arterial sistémica. Su tratamiento incluye α-agonistas (como metoxamina, fenilefrina), que incrementan las resistencias periféricas, forzando la entrada de sangre por el infundíbulo. Sin embargo, en nuestro medio no están comercializados. Una alternativa no descrita aún podría ser terlipresina, un potente vasoconstrictor. Se presenta un lactante de 3 meses de edad, con tetralogía de Fallot e hipoplasia de ramas pulmonares, que desarrolló crisis hipoxémicas graves durante el postoperatorio de cirugía paliativa (Blalock-Taussig), sin respuesta al tratamiento habitual. La administración de terlipresina, hasta en 3 episodios, consiguió revertir las mismas, con un incremento significativo de la saturación arterial. Aunque no existe evidencia actualmente, la terlipresina podría ser una alternativa a los α-agonistas en estos pacientes (AU)

Hypercyanotic spells, very common in Fallot tetralogy, are a medical emergency and can cause neurological damage or even death. They are produced by a dramatic decrease in pulmonary blood flow, with increased right-left shunt and a drop in systemic arterial saturation. Treatment includes α-agonists (such as methoxamine or phenylephrine), which increase peripheral resistance, forcing the entry of blood through the infundibulum. However, they are not available in our environment. An alternative, still not described, could be terlipressin, a potent vasoconstrictor. We report a three months old infant, with Fallot tetralogy and hypoplastic pulmonary branches, who developed a severe hypoxaemic crisis during postoperative palliative surgery (Blalock-Taussig), no responsive to standard therapy. The administration of terlipressin in three hypercyanotic spells, was effective and reversed them, with a significant and sustained increase in arterial saturation. Although there is still no evidence, terlipressin may be an alternative to α-agonists in these patients (AU)

[Terlipressin as rescue therapy in hypercyanotic spells of Fallot tetralogy]. / Terlipresina como tratamiento de rescate de las crisis hipoxémicas en la tetralogía de fallot.

Hypercyanotic spells, very common in Fallot tetralogy, are a medical emergency and can cause neurological damage or even death. They are produced by a dramatic decrease in pulmonary blood flow, with increased right-left shunt and a drop in systemic arterial saturation. Treatment includes alpha.-agonists (such as methoxamine or phenylephrine), which increase peripheral resistance, forcing the entry of blood through the infundibulum. However, they are not available in our environment. An alternative, still not described, could be terlipressin, a potent vasoconstrictor. We report a three months old infant, with Fallot tetralogy and hypoplastic pulmonary branches, who developed a severe hypoxaemic crisis during postoperative palliative surgery (Blalock-Taussig), no responsive to standard therapy. The administration of terlipressin in three hypercyanotic spells, was effective and reversed them, with a significant and sustained increase in arterial saturation. Although there is still no evidence, terlipressin may be an alternative to alpha.-agonists in these patients.