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Enlarged cerebral ventricular system in infant achondroplastic dwarf
Neurology
|July 1, 1980
Insights
The enlarged head in achondroplasia may stem from megalencephaly in infants, with enlarged brain ventricles becoming a factor later. This study tracks head and ventricle size in an infant dwarf.
Area of Science:
- Pediatric Neurology
- Medical Genetics
- Skeletal Dysplasias
Background:
- Achondroplasia is a common skeletal dysplasia characterized by disproportionate dwarfism.
- The etiology of macrocephaly (enlarged head) in achondroplasia has been a subject of debate.
- Understanding head size progression is crucial for managing achondroplasia.
Observation:
- A case study of an infant with achondroplasia was conducted.
- The infant presented with significant head enlargement (90th percentile) at 2 months of age.
- Cerebral ventricles were not enlarged at 2 months but showed dilation by 10 months.
Findings:
- Megalencephaly (abnormally large brain) is proposed as the primary cause of macrocephaly in newborns with achondroplasia.
- Progressive ventricular dilation contributes to head enlargement in later infancy.
- This suggests a biphasic process in head size development in achondroplasia.
Implications:
- The findings suggest that megalencephaly is a key factor in early head enlargement in achondroplasia.
- Monitoring for ventricular dilation is important in older infants with achondroplasia.
- This research aids in understanding the neurodevelopmental aspects of achondroplasia.
Abstract:
The cause of the enlarged head found in achondroplastic dwarfs has been disputed. We studied an infant achondroplastic dwarf who had an enlarged (90%) head at age 2 months without enlarged cerebral ventricles. At age 10 months, her head size further enlarged (95%) and the cerebral ventricles were dilated. Megalencephaly may be the major factor contributing to the enlarged head in newborn achondroplastic dwarfs. Later, enlarged cerebral ventricles also contribute.