Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs.

Abstract:

:We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bilateral optic atrophy and the visual evoked potentials documented prolonged latencies. Further, motor and sensory conduction velocities were normal. Chromosomal examinations for the sibs and their parents showed normal results. The majority of cases are sporadic but rare reports of recurrence in siblings exist. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Our report adds more weight that brain stem dysgenesis could be associated with DWM, increasing the spectrum of heterogeneity of this malformation.

journal_name

Brain Dev

journal_title

Brain & development

authors

Abdel-Salam GM,Shehab M,Zaki MS

doi

10.1016/j.braindev.2006.01.009

keywords:

subject

Has Abstract

pub_date

2006-09-01 00:00:00

pages

529-33

issue

8

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(06)00050-7

journal_volume

28

pub_type

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