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Re: Cataran's DiseaseFrom: Geffrey H. Klein, MD (gklein@icsi.net)Tue May 11 17:48:07 1999
At 3:13 PM -0500 on 5/11/99, Stephen A. Szabo wrote:
> I have a patient now 10 weeks pregnant who has a family history of Cataran's Maybe she means Canavan disease: CANAVAN DISEASE CLINICAL SYNOPSIS Neuro : Atonia of neck muscles Hyperextension of legs Flexion of arms Severe mental retardation Head : Megalencephaly Eyes : Blindness Misc : Onset in early infancy Death usually by 18 months Lab : Pathology shows spongy degeneration of the white matter Abnormal mitochondria of astrocytes Increased urinary, spinal fluid and plasma N-acetylaspartic acid (NAA) Aspartoacylase (aminoacylase-2) deficiency Inheritance : Autosomal recessive
-- Geffrey H. Klein, MD geffrey.klein@obgyn.net 17448 State Hwy 3 Suite 200 Webster, Texas 77598 (713) 741 2273 ext 2628
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