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| CASE REPORT |
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| Year : 2012 | Volume
: 58
| Issue : 4 | Page : 294-295 |
Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: Unusual genetic mutation leading to unusual manifestation?
D Maiti, M Bhattacharya, S Yadav
Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
Correspondence Address:
M Bhattacharya
Department of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0022-3859.105451
Proximal spinal muscular atrophy (SMA) or type 1 SMA is a fatal autosomal recessive disorder usually caused by homozygous deletion of exons 7 and 8 in the survivor motor neuron (SMN) gene. Additional deletion of the neuronal apotosis inhibitory protein (NAIP) gene exacerbates the clinical severity. Isolated exon 8 deletion has been reported in a single case series of SMA types 2 and 3 and never with SMA type 1. While extraocular muscles are typically spared, there are a few case reports documenting associated external ophthalmoplegia. Optic atrophy is a hitherto unreported association of SMA. We report a 10-month-old male infant with SMA type 1 with optic atrophy due to isolated deletion of exon 8 of the SMN gene with intact exon 7 and NAIP gene.
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