ABSTRACT
Relato de caso: as malformações congênitas pulmonares são raras e variam quanto à sua forma de apresentação clínica e gravidade, podendo manifestar-se em qualquer idade. A anamnese e o exame físico foram instrumentos essenciais, além, da entrevista com os familiares para que o diagnóstico de agenesia pulmonar e dextrocardia fossem confirmados de forma rápida e as intervenções de enfermagem e médicas implementadas em tempo recorde e o paciente recebesse alta sem sequelas além das consequências já deixadas pela doença desde sua infância. Conclusão: compreender o diagnóstico é um processo permeado por inquietudes e requer uma avaliação minuciosa dos pacientes a fim de minimizar danos irreversíveis. Sendo assim, a sistematização da assistência de enfermagem é um recurso ímpar que viabiliza a organização da assistência pelo enfermeiro e possibilita utilizar sistemas de classificação da prática de enfermagem, planejamento e avaliação da assistência além de detectar indicadores clínicos, gerando melhora no prognóstico do paciente.
Case report: congenital pulmonary malformations are rare and vary in their clinical presentation and severity and may manifest at any age. Anamnesis and physical examination were essential tools, as well as interviews with family members so that the diagnosis of pulmonary agenesis and dextrocardia could be confirmed quickly and nursing and medical interventions implemented in record time and the patient was discharged without sequelae beyond the consequences already left by the disease since its childhood. Conclusion: understanding the diagnosis is a process permeated by concerns and requires a thorough evaluation of patients in order to minimize irreversible damage. Thus, the systematization of nursing care is a unique resource that enables the organization of care by the nurse and enables the use of nursing practice classification systems, planning and assessment of care, as well as detecting clinical indicators that improve patient's prognosis.
Subject(s)
Lung , Nursing Care , Tri-Ponderal Mass IndexABSTRACT
Resumen Introducción: La asociación Mardini-Nyhan o LACHT es una condición clínica de baja prevalência que cursa con alteraciones pulmonares, cardíacas y de las extremidades. Su etiología no está clara mente documentada hasta la fecha. Objetivo: Describir el caso de una niña de 4 meses y realizar una revisión de la literatura de los casos reportados sobre esta asociación, con el propósito de exponer las alteraciones encontradas y de esta forma orientar el diagnóstico temprano de esta entidad. Caso clínico: Niña de 4 meses de edad que ingresa a cuidado intensivo en insuficiencia respiratoria mixta, con alteraciones pulmonares, cardíacas y de extremidades que cumplen criterios para la asociación LACTH, se documenta adicionalmente hipoplasia de la vía aérea superior, que empeora la evolución, aumenta la dificultad en la ventilación mecánica y favorece el desenlace fatal a los 7 días de hospitali zación. Conclusiones: La asociación LACTH es una patología poco prevalente en la cual los hallazgos clínicos permiten sospechar el diagnóstico. Es caso clínico sería el primer caso diagnosticado en el continente americano y el caso número 11 descrito en la literatura mundial, aportando como nuevo hallazgo la asociación con hipoplasia de la vía aérea superior.
Abstract Introduction: The Mardini-Nyhan or LACHT association is a clinical condition of low prevalence that presents with pulmonary, cardiac and limb abnormalities, in which genetic etiology is not clearly documented to date. Objective: To describe the case of a 4-month-old child and the literature review of cases reported on this association, with the purpose of exposing the alterations found and thus gui de the early diagnosis of this entity. Clinical case: 4 months old girl, who admitted to intensive care in mixed respiratory failure, with pulmonary, cardiac and limb disorders that meet criteria for LACHT association, additionally documents hypoplasia of the upper airway, which worsens the evolution, increases the difficulty in mechanical ventilation and favors the fatal outcome at 7 days of hospita lization. Conclusions: LACTH association is a rare pathology in which the clinical findings make it possible to suspect the diagnosis, this is the first case diagnosed in the Americas and the number 11 case in the world literature and brings as a new finding the association with hypoplasia of the upper airway.
Subject(s)
Humans , Female , Infant , Abnormalities, Multiple/diagnosis , Limb Deformities, Congenital/diagnosis , Fingers/abnormalities , Heart Defects, Congenital/diagnosis , Lung/abnormalities , Lung Diseases/diagnosis , Fatal OutcomeABSTRACT
La agenesia pulmonar es una alteración poco frecuente, con predominio en el sexo femenino y sin preferencia por la lateralidad. Reportamos el caso de un recién nacido masculino con diagnóstico prenatal de hernia diafragmática. Al nacer, se descartó esta patología y se hizo una impresión diagnóstica de malformación adenomatoide quística (malformación congénita de la vía aérea pulmonar) vs. agenesia pulmonar. El paciente falleció a los seis días de vida y la necropsia confirmó una agenesia pulmonar.
Pulmonary agenesis is an infrequent pathology which occurs predominantly among females with no lateral preference. We report on the case of a newborn male diagnosed with prenatal diaphragm hernia though at birth seemed more likely either to be a congenital cystic adenomatoid malformation (congenital pulmonary airway malformation) or pulmonary agenesis. The patient died six days after birth and necropsy confirmed pulmonary agenesis.