Clinical Neuroscience

Analysis of IQ and genotype in duchenne and becker muscular dystrophy

LÁSZLÓ Aranka1, PÓR Erzsébet1, CSEPREGI Zsuzsa1, ENDERFFY Emőke1, RASKÓ István2

SEPTEMBER 20, 1997

Clinical Neuroscience - 1997;50(09-10)

The authors analysed the association of genotype and the intelligence quotient (IQ) examined with age dependent psychological methods (Wechsler, Vineland, Binet, Raven IQ tests) in 41 Duchenne (DMD), 2 intermediate MD, and 14 Becker type muscular dystrophic (BMD) patients (mean age2.5-37 y). ln 61.4% of the DMD/BMD exon deletion of dystrophin gene was found, while in 38.6% no deletion was detected. The assessment of the genotype was made by using multiple PCR method, examining the most frequent deletion of 18 exons and the muscle specific promoter. Among the deletion patients the distribution of mentol retardation was 28.5%, among patients with non deletion 22.7%. ln 21.4% of BMD patients and in 29.2% DMD patients mentol retardation was detected, the differences were not significant. Similar to the findings of other authors in 4 patients having exon deletions near the 5' end of the gene no mentol retardation was found, but in 14 of 30 patients having deletions near the 5' end of the gene there was. One patient with the largest deletion (exons 12-44) proved to be debil.

AFFILIATIONS

  1. Department of Paediatrics, Szent-Györgyi Albert Medical University, Department of Genetics
  2. Biological Research Centre, Hungarian Academy of Sciences, Szeged

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Details of neurosurgical management of four patients suffering from intractable epilepsy caused by cavernous angiomas of subcortical eloquent brain areas are presented. Two of four cavernomas were not visualized by CT or angiography but only by MRI. MRI or CT stereotactic image-guided key-hole craniotomy and resection of the lesion from the dominant anterior central gyrus (2 cases), from the dominant superior temporal gyrus or from the dominant supramarginal gyrus were performed without any morbidity. The postoperative hospital stay was 3-5 days and all four patients experienced improved seizure control. We conclude that stereotactic image-guided key-hole craniotomy and microsurgical resection offer significant advantages in the treatment of cavernous malformations. Surgical indications include medically refractory epilepsy, intracerebral haemorrhage and/or progressive neurological deficit.

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