Related Experiment Videos
Unilateral schizencephaly and contralateral polymicrogyria associated with umbilical cord mass
1Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Lucile Packard Children's Hospital at Stanford, California 94305-5235, USA. jhahn@stanford.edu
Insights
A rare brain malformation in an infant, characterized by unilateral separated-lip schizencephaly and contralateral polymicrogyria, was identified. This condition, likely caused by umbilical cord issues, highlights the impact of early brain development disruptions.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatric Neurology
Background:
- Congenital brain malformations present significant diagnostic and therapeutic challenges in pediatric neurology.
- Schizencephaly and polymicrogyria are rare cortical developmental disorders with diverse clinical manifestations.
- Understanding the etiology of these malformations is crucial for predicting outcomes and guiding interventions.
Observation:
- A 6-month-old male infant presented with diffuse hypertonia and global developmental delay.
- Neuroimaging revealed unilateral separated-lip schizencephaly and contralateral polymicrogyria.
- The polymicrogyria was accompanied by an incomplete clefting in the affected hemisphere.
Findings:
- The observed bilateral brain lesions, schizencephaly and polymicrogyria, suggest a common underlying cause affecting early brain development.
- An umbilical cord hamartoma was identified and presumed to be the causative factor.
- Hypoperfusion to the developing brain secondary to the umbilical cord anomaly is the proposed mechanism for the observed malformations.
Implications:
- This case underscores the potential impact of umbilical cord pathology on fetal brain development, leading to complex malformations.
- The findings contribute to the understanding of the spectrum of central nervous system anomalies associated with vascular insults during gestation.
- Further research into the relationship between placental and umbilical cord abnormalities and neurodevelopmental outcomes is warranted.
Abstract:
We report a 6-month-old boy with diffuse hypertonia and developmental delay who had unilateral separated-lip schizencephaly and contralateral polymicrogyria. The contralateral polymicrogyria was associated with an incomplete clefting in that hemisphere. An umbilical cord hamartoma is presumed to have caused hypoperfusion to the early developing brain, resulting in bilateral lesions.