Re: microcephaly

From: Wayne Persutte (wpersutte@brown.uhcolorado.edu)
Thu May 13 08:45:16 1999


On 12 May 99 at 23:33, James S Smeltzer MD wrote:

>I STILL maintain that you know the bad actors
> by the company they keep and that it is a rara avis that has
> ISOLATED microcephaly (by any measure) that has a problem.
>
> I've been wrong before (but not often). Vide supra! Semper fi!
> Show me the data of low school performance with ONLY microcephaly
> (perhaps from the british birth cohort project or the Collaborative
> perinatal project - which showed NO increased problems above the 1st
> %ile unless multiple problems other than hat size, as I recall. Is
> there anything from the Dutch Famine?

I know anecdote doesn't count for much, but we reported a case in 1990 with pathologic 'autosomal dominant" microcephaly(1). This infant had several developmental delay without ventriculomegaly. Since then, I have been following this issue closely. In my opinion, one can have significant neurological maldevelopment without ventriculomegaly (represented by gyral maldevelopment and abnormalities in frontal lobe neural migration). The following reports provide supportive evidence of the existance of pathologic microcephaly without ventirculomegaly (3, 4, 5, 6). In fact, the Bromley study was limited to microcephalic fetuses without coexisting brain pathology.

(!) Persutte WH. Kurczynski TW. Chaudhuri K. Lenke RR. Woldenberg L. Brinker RA. Prenatal diagnosis of autosomal dominan microcephaly and postnatal evaluation with magnetic resonance imaging [see comments]. Prenatal Diagnosis. 10(10):631-42, 1990

(2) Persutte WH. Microcephaly--no small deal. Ultrasound in Obstetrics & Gynecology. 11(5):317-8, 1998 May.

(3) Thibaud D. Ploussard JP. Vaquant PO. Chemouny S. Kleitz T. Diagnosis of phenylketonuria in a 35-year-old mother in relation to prenatal diagnosis of intrauterine growth retardation with microcephaly Archives de Pediatrie. 5(11):1229-31, 1998 Nov.

(4) van der Burgt I. Chrzanowska KH. Smeets D. Weemaes C. Nijmegen breakage syndrome. Journal of Medical Genetics. 33(2):153-6, 1996 Feb.

(5 Levy HL. Lobbregt D. Platt LD. Benacerraf BR. Fetal ultrasonography in maternal PKU Prenatal Diagnosis. 16(7):599-604, 1996

(6) Bromley B. Benacerraf BR. Difficulties in the prenatal diagnosis of microcephaly. Journal of Ultrasound in Medicine. 14(4):303-6, 1995 Apr.

Wayne.

(o o) -------oOO--(_)----------- Wayne H. Persutte, B.S., R.D.M.S. Assistant Professor Department of Obstetrics and Gynecology University of Colorado Health Sciences Center, Denver, CO <<WPersutte@Brown.UHColorado.Edu>> Telephone (303) 372-1026 FAX (303) 372-1816 ----------------oOO--------




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