Coexistence of Neonatal Bartter Syndrome and Congenital Cutis Laxa, in which a new mutation in SLC12A1 was identified

Abstract

Introduction: Neonatal Bartter Syndrome (NBS) is an extremely rare congenital chronic renal tubular transport disorder characterized by preterm birth, polyhydramnios, polyuria, salt wasting, and severe dehydration. Congenital Cutis Laxa (CCL) is a rare disease characterized by loss of skin flexibility and laxity, and atypical facial appearance.
 Case Presentation: A 1290-gram female baby at 30+6 weeks of gestation was hospitalized due to premature birth and respiratory distress. During physical examination, an atypical facial appearance, wrinkles on the forehead, skin laxity, and philtrum were visible as well as a small chin and arachnodactyly in the fingers and toes. The patient displayed metabolic alkalosis in her blood gases. The patient, with an atypical face and current findings submitted her exome for genetic diagnosis. Genetic analysis revealed the presence of homozygous NM_001184832.2:c.2485+5G>A (rs749269268) in SLC12A1, and NBS Type 1 was diagnosed. A novel heterozygous NM_000501.4:c.352G>T, p.Val118Phe (rs781922544) variant was detected in ELN, and CCL syndrome with autosomal dominant inheritance was diagnosed.
 Conclusions: The rare co-occurrence of NBS and CCL syndrome in our patient was seen as a mere coincidence. Since this is the first reported case in the literature, it was deemed appropriate to present this case.