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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.
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Kurtz I. Molecular pathogenesis of Bartter's and Gitelman's syndromes. Kidney Int. 1998 Oct;54(4):1396-410.
Heffernan A, Steffensen TS, Gilbert-Barness E, Perlman S. Bartter syndrome presenting as poor weight gain and abdominal mass in an infant. Fetal Pediatr Pathol. 2008;27(4-5):232-43.
Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat. 2011 Apr;32(4):445-55.
Dereure O. Cutis laxa autosomique récessive : de nouveaux gènes identifiés [Autosomal recessive cutis laxa: New genes identified]. Ann Dermatol Venereol. 2018 Aug-Sep;145(8-9):554-555.
Lee BH, Cho HY, Lee H, Han KH, Kang HG, Ha IS, Lee JH, Park YS, Shin JI, Lee DY, Kim SY, Choi Y, Cheong HI. Genetic basis of Bartter syndrome in Korea. Nephrol Dial Transplant. 2012 Apr;27(4):1516-21.
Amirlak I, Dawson KP. Bartter syndrome: an overview. QJM. 2000 Apr;93(4):207-15.
Duz MB, Kirat E, Coucke PJ, Koparir E, Gezdirici A, Paepe A, Callewaert B, Seven M. A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review. Clin Dysmorphol. 2017 Jul;26(3):142-147.
Berk DR, Bentley DD, Bayliss SJ, Lind A, Urban Z. Cutis laxa: a review. J Am Acad Dermatol. 2012 May;66(5):842.e1-17.