التفاصيل البيبلوغرافية
| العنوان: |
Neuropathology of Occipital Horn Syndrome. |
| المؤلفون: |
Palmer, Cheryl Ann, Percy, Alan K. |
| المصدر: |
Journal of Child Neurology. Oct2001, Vol. 16 Issue 10, p764. 3p. 4 Black and White Photographs, 1 Chart. |
| مصطلحات موضوعية: |
*EHLERS-Danlos syndrome, *NEUROLOGICAL disorders |
| مصطلحات جغرافية: |
UNITED States |
| مستخلص: |
Occipital horn syndrome, formerly known as Ehlers-Danlos syndrome type IX of X-linked cutis laxa, is an allelic variant of Menkes' syndrome. Although the clinical symptomatology and systemic pathology findings have been well described in occipital horn syndrome, the neuropathology has not previously been reported. A kindred affected by the X-linked occipital horn syndrome is followed at the Univesity of Alabama at Birmingham. A severely mentally retarded dysmorphic man, who died at the age of 26 years, never gained the ability to work or talk. Among other findings of autopsy, the patient had the skeletal anomalies previously described with vascularization and extreme reduplication of the cerebral arteries, in conjunction with cystic medial degeneration; bilateral cerebellar hypoplasia; focal cortical dysplasia, and cerebellar heterotopias. These findings are similar to those seen in the brains of patients with Menkes' syndrome, which is not surprising, given the known phenotypic overlap and the proven allelism of occipital horn syndrome with classic Menkes' syndrome. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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