LACHT association with hypoplasia of the upper airway. Clinical case

• Published in: Revista chilena de pediatria Vol. 88; no. 6; p. 781
• Main Authors: Ardila Gómez, Iván José, Ruiz Rodríguez, Diana Alejandra, Pardo Carrero, María Rosalba
• Format: Journal Article
• Language: Spanish
• Published: Chile 01.12.2017
• Subjects: Abnormalities, Multiple - diagnosis; Fatal Outcome; Female; Fingers - abnormalities; Heart Defects, Congenital - diagnosis; Humans; Infant; Limb Deformities, Congenital - diagnosis; Lung - abnormalities; Lung Diseases - diagnosis
• ISSN: 0717-6228
• DOI: 10.4067/S0370-41062017000600781

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. 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. 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. 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.