Unilateral Schizencephaly and Contralateral Polymicrogyria Associated With Umbilical Cord Mass

Abstract

We report a 6-month-old boy with diffuse hypertonia and developmental delay who had unilateral separated-lip schizencephaly and contralateral polymicrogyria. The contralateral polymicrogyria was associated with an incomplete clefting in that hemisphere. An umbilical cord hamartoma is presumed to have caused hypoperfusion to the early developing brain, resulting in bilateral lesions. (J Child Neurol 2003; 18: 232—234).

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References

Hayashi N. , Tsutsumi Y. , Barkovich AJ : Morphological features and associated anomalies of schizencephaly in the clinical population: Detailed analysis of MR images. Neuroradiology 2002;44:418—427.

Barkovich AJ : Pediatric Neuroimaging, 3rd ed. Philadelphia, Lippincott Williams & Wilkins, 2000.

Haverkamp F. , Zerres K. , Ostertun B. , et al: Familial schizencephaly: Further delineation of a rare disorder. J Med Genet 1995;32:242—244.

Hilburger AC , Willis JK , Bouldin E. , Henderson-Tilton A. : Familial schizencephaly . Brain Dev 1993;15:234—236.

Hosley MA , Abroms IF , Ragland RL : Schizencephaly: Case report of familial incidence. Pediatr Neurol 1992; 8: 148—150.

Robinson RO : Familial schizencephaly. Dev Med Child Neurol 1991;33:1010—1012.

Granata T. , Farina L. , Faiella A. , et al: Familial schizencephaly associated with EMX2 mutation. Neurology 1997; 48:1403-1406.

Faiella A. , Brunelli S. , Granata T. , et al: A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2. Eur J Hum Genet 1997;5:186—190.

Brunelli S. , Faiella A. , Capra V. , et al: Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 1996;12:94—96.

10.

Hayashi N. , Tsutsumi Y. , Barkovich AJ : Polymicrogyria without porencephaly/schizencephaly. MRI analysis of the spectrum and the preval e n c e o f m a c r o s c o p i c f i n d i n g s i n t h e c l i n i c a l population. Neuroradiology 2002; 44:647-655.

11.

Barkovich AJ , Kjos BO : Schizencephaly: Correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol 1992;13:85—94.

12.

Craven C. , Ward K. : Embryology, fetus, and placenta: normal and abnormal, in Scott JR , DiSaia PJ , Hammond CB , Spellacy WN (eds): Danforth's Obstetrics and Gynecology, 8th ed. Philadelphia, Lippincott Williams & Wilkins, 1999, 29—46.