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Occurrence of cyclopia, myelomeningocele, deafness, and abducens paralysis in siblings
Insights
Holoprosencephaly without chromosomal defects can cause various CNS anomalies. This family study highlights diverse malformations across generations, suggesting a common underlying cause for these developmental disorders.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Holoprosencephaly (HPE) is a spectrum of brain malformations.
- Non-chromosomal HPE is linked to diverse central nervous system (CNS) anomalies.
- Understanding genetic and environmental factors is crucial for HPE.
Observation:
- A family presented with multiple affected members across generations.
- Affected individuals exhibited varied congenital anomalies, including myelomeningocele, hypotelorism, cerebral palsy, and deafness.
- One fetus displayed cyclopia, a severe form of HPE.
Findings:
- The family's presentation suggests a potential inherited or familial predisposition to HPE and associated malformations.
- The diverse phenotypes indicate a possible shared etiology despite varied clinical manifestations.
- This case series underscores the complex genetic underpinnings of HPE.
Implications:
- Further research into the genetic basis of non-chromosomal HPE is warranted.
- Early diagnosis and genetic counseling are vital for families with a history of HPE.
- Identifying the common cause could lead to improved understanding and potential interventions for HPE spectrum disorders.
Abstract:
As holoprosencephaly without chromosome defect may be associated with other CNS-related anomalies such as mental retardation, mental illness, facial paralysis, endocrine disorders, deafness, spina bifida, and myelomeningocele, we present a family in which one girl had a myelomeningocele, a brother had orbital hypotelorism, facial and cerebral asymmetries, cerebral palsy, abducens paralysis, and inner ear deafness. A 3rd pregnancy was terminated at 16 weeks; the fetus had cyclopia. A common cause is discussed in these cases and in those families in which holoprosencephaly and additional malformations occur among different generations.