Stephanie M. Morris, MD
People with neurofibromatosis type 1 (NF1) can develop a broad spectrum of features, ranging from benign and malignant tumors to cognitive impairment, motor delays and autism. This degree of variability presents a significant challenge for physicians caring for individuals with NF1, since it is not currently possible to predict which medical problems will arise in a given patient, or whether these problems will require treatment.
Macrocephaly (‘macro’ meaning ‘large’; ‘cephaly’ meaning head’) is one of the most commonly observed manifestations of NF1, and has been proposed as a predictive factor for development of optic pathway gliomas (OPG) in children with NF1. The use of macrocephaly as a marker for OPG would represent a useful predictive tool and could reduce the need for repeated neuroimaging to identify these brain tumors in young children.
In a report recently published in the Journal of Child Neurology, Dr. Stephanie Morris and her colleagues demonstrated that macrocephaly is neither a reliable predictor of OPG development, nor is it an indicator of subsequent vision loss in those with NF1-related OPG.
Current studies spearheaded by Dr. Morris are aimed at discovering new markers for specific NF1-related medical problems, including autism and attention deficit.
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Morris SM, Monroe CL, Gutmann DH. Macrocephaly Is Not a Predictor of Optic Pathway Glioma Development or Treatment in Neurofibromatosis Type 1. Journal of Child Neurology. 2016 Aug 31. doi:10.1177/0883073816664659 [Epub ahead of print]