Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome. Cureus 2023 May;15(5):e38787
Date
06/12/2023Pubmed ID
37303350Pubmed Central ID
PMC10249999DOI
10.7759/cureus.38787Abstract
Neu-Laxova syndrome (NLS) is a rare lethal disorder with autosomal recessive inheritance and is characterized by multiple congenital anomalies. Our case of NLS presented with severe intrauterine growth restriction (IUGR), abnormal facial features, severe central nervous system malformations, skeletal muscle contractures, and the hallmark signs of NLS: ichthyotic skin and excessive subcutaneous tissue with edema. Additionally, testing amniotic fluid from a prior pregnancy with a fetus showing similar abnormalities revealed several regions of homozygosity; one of these regions involved chromosome 1p13.2-p11.2, where the PHGDH gene is located. Based on the pattern of findings on serial fetal ultrasounds, postmortem neonatal exams, gross and microscopic exams, radiographs, and genetic analysis in conjunction with the clinical history and the prior pregnancy with the above-described molecular alteration, a final diagnosis of NLS was made. This rare developmental disorder is characterized by heterogenous neuroectodermal defects. Fetal ultrasound in the second trimester can help diagnose it. It is postulated to be caused by loss-of-function mutations in the PHGDH (phosphoglycerate dehydrogenase), PSAT1 (phosphoserine aminotransferase 1), and PSPH (phosphoserine phosphatase) genes, which are responsible for de novo L-serine synthesis.
Author List
Jain PV, Maxey J, W Lawlor M, Parsons LNAuthors
Pragya Virendrakumar Jain MD Assistant Professor in the Pathology and Laboratory Medicine department at Medical College of WisconsinLauren Parsons MD Associate Professor in the Pathology and Laboratory Medicine department at Medical College of Wisconsin
