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Re: Cataran's Disease From: Stephen A. Szabo (saszabo@sprintmail.com) Wed May 12 15:59:37 1999 Messages sorted by: [ date ][ thread ][ subject ][ author ] Next message: Bernard Cristalli: "Re: Cataran's Disease" Previous message: Garry E. Siegel, M.D.: "Re: Stenotic Vagina" In reply to: Geffrey H. Klein, MD: "Re: Cataran's Disease" Next in thread: ATB28@aol.com: "Re: Cataran's Disease" Thank You Stephen -- Stephen A. Szabo, MD, FACOG Pinehurst Surgical Clinic, P.A / Pinehurst, NC Obstetrics and Gynecology / Private Practice / 8 years saszabo@sprintmail.com <mailto:saszabo@sprintmail.com>    www.pinehurstsurgical.com <http://www.pinehurstsurgical.com> -----Original Message----- From: ob-gyn-l@obgyn.net [mailto:ob-gyn-l@obgyn.net]On Behalf Of Geffrey H. Klein, MD Sent: Tuesday, May 11, 1999 6:49 PM To: Multiple recipients of list OB-GYN-L Subject: Re: Cataran's Disease 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 > Disease. Is anyone familiar with this disease and is there any genetic > screening available? 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 Next message: Bernard Cristalli: "Re: Cataran's Disease" Previous message: Garry E. Siegel, M.D.: "Re: Stenotic Vagina" In reply to: Geffrey H. Klein, MD: "Re: Cataran's Disease" Next in thread: ATB28@aol.com: "Re: Cataran's Disease"

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