Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency

Abstrakt

Transmembrane protein 70 (TMEM70) deficiency has been delineated as a distinct mitochondrial disease less than a decade ago. Hallmarks of the disease include hypotonia, developmental delay, hypertrophic cardiomyopathy, facial dysmorphism, microcephaly, hypospadia, lactic acidosis and 3-methylglutaconic aciduria.

Congenital diaphragmatic hernia (CDH) has been described only in one patient with this disease, so far. We report herein the second case of unique association of TMEM70 deficiency and CDH.

Klíčová slova

• Late-presenting
• congenital
• diaphragmatic
• hernia
• child
• with
• TMEM70
• deficiency