Infantile Onset Alexander Disease
with Normal Head Circumference:
A Genetically Proven Case Report
Published: November 1, 2014 | DOI: https://doi.org/10.7860/JCDR/2014/.5200
Manisha Goyal, Sumit Mehndiratta, Mohammed Faruq, Manish Kumar Dwivedi, Seema Kapoor
1. Senior Research Officer, Division of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.
2. Junior Specialist, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.
3. Scientist, Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, (IGIB-CSIR), Mall Road, Delhi, India.
4. Project Fellow, Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, (IGIB-CSIR), Mall Road, Delhi, India.
5. Professor, Department of Pediatrics, Division of Genetics and Metabolism, Department Of Pediatrics, Maulana Azad Medical College, New Delhi, India.
Correspondence
Dr. Seema Kapoor,
M-439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi-110063, India.
Phone : 9968604313, E-mail : drseemakapoor@gmail.com
Alexander disease (AD) is an autosomal dominant leukodystrophy which predominantly affects infants and children. The infantile form comprises the most common form of AD. It presents before two years of age and characterized by macrocephaly, psychomotor regression, spasticity, pyramidal sign, ataxia and seizures. The diagnosis is based on magnetic resonance imaging (MRI) findings and confirmed by Glial fibrillary acidic protein (GFAP) gene molecular testing. We report an Indian case with normal head circumference
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