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January-March 2017 | Vol. 10 | Issue 1 | Page No 2-4
An Unexpected Cause of Macrocephaly in a Child with Leukodystrophy
Karthik Tallapaka 1, 2, Jamal Md Nurul Jain 2, Ashwin Dalal 2 and Prajnya Ranganath 1, 2
1Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India 2Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India
Address for Correspondence Email: prajnyaranganath@gmail.com
Leukodystrophies are a heterogeneous group of genetic disorders predominantly involving the white matter of the brain, which are characterised by progressive psychomotor regression and abnormal neuroimaging findings. Macrocephaly is an important clinical finding which helps to considerably narrow down the differential diagnoses one has to consider in a patient with suspected leukodystrophy. However, macrocephaly may sometimes be a co-incidental finding or related to a co-existing condition in a patient. Here we describe one such patient with leukodystrophy and macrocephaly, wherein parental examination provided a vital clue to the diagnosis (father had Neurofibromatosis type I). This clinical report highlights the importance of a detailed family history and parental examination in clinical genetic evaluation. It also reiterates the fact that more than one genetic disease may exist in a family and the resultant phenotype of affected individuals in such families may be a combination of the individual disease manifestations.
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