Bipolar disorder with Melnick-Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature.

ABSTRACT:

Background

Melnick-Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenotypes of F-actin-binding cytoskeletal phosphoprotein Filamin-A mutations. Melnick-Needles syndrome is a rare X-linked condition that is lethal in males and shows great phenotypic variability in affected females. It is caused by mutations in Filamin-A gene, which encodes the protein Filamin A. Defects of the human Filamin-A gene also cause X-linked periventricular nodular heterotopia, a malformation of neuronal migration characterized by nodules of neurons in inappropriate location adjacent to the walls of the lateral ventricles.

Case presentation

We report on two Caucasian adolescent females, sisters, diagnosed with Melnick-Needles syndrome and bilateral perive

SUBMITTER: Riccio MP 

PROVIDER: S-EPMC8504088 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature