Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.

ABSTRACT:

Rationale

Periventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neuronal migration during neurogenesis in cortex development caused by pathogenic variants in the NEDD4L gene.

Patient concerns

We report the case of a polystigmatized 2-year-old boy having significant symptomatologic overlap with PVNH7, such as delayed psychomotor and mental development, seizures and infantile spasms, periventricular nodular heterotopia, polymicrogyria, cleft palate, 2 to 3 toe syndactyly, hypotonia, microretrognathia, strabismus, and absent speech and walking. The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sclerae, hydronephrosis, transversal palmar creas

SUBMITTER: Pecimonova M 

PROVIDER: S-EPMC8183750 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature