| Autor: |
Fernández-Torre JL; Department of Clinical Neurophysiology, University Hospital Marqués de Valdecilla (IFIMAV), Avenida Valdecilla, s/n, 39008 Santander, Cantabria, Spain. jlfernandez@humv.es, Teja JL, Castellanos A, Figols J, Obeso T, Arteaga R |
| Jazyk: |
angličtina |
| Zdroj: |
Brain & development [Brain Dev] 2008 Oct; Vol. 30 (9), pp. 599-602. Date of Electronic Publication: 2008 Apr 01. |
| DOI: |
10.1016/j.braindev.2008.02.005 |
| Abstrakt: |
We report the case of a neonate with spinal muscular atrophy type I (SMA type I or Werdnig-Hoffman disease) who was initially misdiagnosis as having critical illness neuropathy. Electromyography (EMG) showed a moderate loss of voluntary and motor unit potentials of both neurogenic and myopathic appearance. Nerve conduction studies revealed the presence of a severe sensory-motor axonal neuropathy. Finally, a biopsy of quadriceps was compatible with the diagnosis of SMA type I. A genetic study confirmed the existence of a homozygous absence of exons 7 and 8 of the telomeric supervival motoneuron gene (SMN1 gene). |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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