[LACHT association with hypoplasia of the upper airway. Clinical case]. / Asociación LACHT con hipoplasia de la vía aérea superior. Caso clínico.
Rev Chil Pediatr
; 88(6): 781-786, 2017 Dec.
Article
em Es
| MEDLINE
| ID: mdl-29546929
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Deformidades Congênitas dos Membros
/
Dedos
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Cardiopatias Congênitas
/
Pulmão
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Pneumopatias
Tipo de estudo:
Risk_factors_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
Es
Ano de publicação:
2017
Tipo de documento:
Article