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Revista Mexicana de Pediatría

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2005, Number 6

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Rev Mex Pediatr 2005; 72 (6)

X-Linked hydrocephalus. A case report

Rey ULC, Ríos FBA, Ibarra PJM, Olivas PE
Full text How to cite this article

Language: Spanish
References: 0
Page: 301-304
PDF size: 149.38 Kb.


Key words:

X chromosome hydrocephalus, L1CAM gen, adducted thumbs, L1 syndrome.

ABSTRACT

Male preterm born by cesarean at 32 weeks of gestation. The patient’s history was significant for a brother with hydrocephalus which died in the neonatal period. The physical exam revealed macrocephaly, suture diastasis and adducted thumbs. The cerebral magnetic resonance showed severe dilation of the ventricular system, scarce cortical mantel, and encephaloatrophy. A peritoneal ventricle derivation was done and at the present time the hydrocephalus is under control but their psychomotor development not improve. Reports about similar cases are review made and comments about the genetic advice are done.





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Rev Mex Pediatr. 2005;72