Amit Bhadu, Naren Amin, Chetan Shah, Prakash Mehta, Kamlesh Patel, Prema Ram Choudhary.
Mental retardation with complex partial seizure in a case of Crouzon syndrome.
J Pak Psych Soc Jan ;10(1):53-6.

Crouzon’s syndrome is a rare autosomal dominant skeletal disorder caused by multiple mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Two genes are known to be associated with Crouzon syndrome, FGFR2 and FGFR3. FGFR stands for fibroblast growth factor receptor. These genes are involved in the growth of the skull bones. The FGFR2 gene is the most common gene associated with Crouzon syndrome. (1) Since human skull is made up of many bones, joined by sutures. The fusion of sutures takes place after the complete growth of the brain. If any of these sutures closes early, it may interfere with the normal growth of the brain and results in various syndromes, even though most people with Crouzon syndrome (97%) do not have mental retardation or learning problems. Only in 3% cases fusion of sutures in early life before the development of brain exerts pressure on the skull as well as on the developing brain itself and May results in an abnormal development and functioning of growing brain. We found such a rare case of Crouzons syndrome having the symptoms of headache, convulsions (complex partial seizures) associated with mental retardation which is not commonly seen in this syndrome.

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