Oligoencephaly: A Complex Neurodevelopmental Disorder
Introduction
Oligoencephaly is a rare, complex neurological disorder characterized by a variety of abnormalities in the brain’s structure and function. This disorder is typically diagnosed in utero, during an ultrasound, and can present with a wide array of symptoms. Oligoencephaly can be caused by a variety of factors, including genetic mutations, environmental exposures, and unknown etiologies. While there is no current cure, various treatments are available to help improve the quality of life for those affected.
Etiology
The etiology of oligoencephaly is varied and can include genetic mutations, environmental exposures, and unknown etiologies. Genetic mutations associated with oligoencephaly include PAX6, SHH, and WNT3A (Kumar, 2017). Environmental exposures that have been associated with oligoencephaly include alcohol and drug use during pregnancy, as well as infection with cytomegalovirus (CMV), toxoplasmosis, and rubella (Kumar, 2017). It is important to note that in some cases, the exact cause of oligoencephaly cannot be determined.
Clinical Presentation
The clinical presentation of oligoencephaly often includes seizures, movement and coordination difficulties, developmental delays, and hydrocephalus (Kumar, 2017). Additional common features of oligoencephaly include microcephaly, encephalomalacia, and in some cases, contralateral hemineglect (Holland, 2015). In addition, those affected may experience visual and auditory deficits, as well as cognitive and behavioral impairments (Holland, 2015).
Treatment and Management
There is currently no cure for oligoencephaly. Treatment is centered around managing symptoms and helping to improve the quality of life for those affected. Management may include anticonvulsant medications to help control seizures, physical and occupational therapy to help with movement and coordination difficulties, and speech therapy to help with communication impairments (Holland, 2015). In addition, it may be necessary for those with hydrocephalus to undergo surgery to help reduce the buildup of fluid in the brain.
Conclusion
Oligoencephaly is a rare, complex neurological disorder that can be caused by a variety of factors, including genetic mutations, environmental exposures, and unknown etiologies. While there is currently no cure, various treatments are available to help improve the quality of life for those affected.
References
Holland, K. D. (2015). Oligoencephaly: Causes, Symptoms, and Treatment. Retrieved from https://www.healthline.com/health/oligoencephaly
Kumar, P. (2017). Oligoencephaly: Causes, Treatment, and Outlook. Retrieved from https://www.medicalnewstoday.com/articles/323146