Fatal leukodystrophy in Costello syndrome: a case report.

ABSTRACT:

Background

Costello syndrome (CS) is a rare genetic condition characterized by dysregulation of the signaling pathway, phenotypic alteration due to fetal macrosomia or growth retardation, facial abnormalities, loose skin, cardiovascular abnormalities, and a variable degree of intellectual disability.

Case presentation

We describe the case of a 20-month-old male patient with fetal macrosomia and polyhydramnios, presenting psychomotor development delay and growth limitation during the first months of life. CS was diagnosed at four months of age after detecting a variant of the HRAS gene c.35G > C (p.G12A). A clinical description of his condition was recorded throughout his life, including cardiovascular diseases, endocrine disorders, and recurrent infections. At 20 months of a

SUBMITTER: Failoc-Rojas VE 

PROVIDER: S-EPMC10364348 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature