Postnatal progressive microcephaly with seizures and brain atrophy is a condition linked to a small head size (microcephaly), seizures, and brain development issues.
Babies with this condition seem normal at birth, but between 4 to 9 weeks, they face challenges like difficulty swallowing, trouble gaining weight, and problems focusing their eyes. They also experience seizures, increased muscle tone, and stiffness. Developmental milestones stop progressing after 4-9 weeks, and a small head becomes noticeable by 9 months. In extremely rare cases, some individuals may have a milder form of the disease without seizures, microcephaly, or poor weight gain. Yet, they still encounter vision problems and severe developmental delays, struggling with tasks like sitting, speaking, or using their hands. Unfortunately, there is currently no cure or treatment for this condition.
This condition is caused by pathogenic (disease-causing) variants in the MED17 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
Online Catalog of Human Genes and Genetic Disorders
Revised November 2023
