Portuguese Version

Year:  2000  Vol. 66   Ed. 3 - (11º)

Relato de Casos

Pages: 273 to 276

Holoprosencephly with Proboscis A Clinical Report.

Author(s): Ney P. Castro Jr.*,
Lídio Granato*,
Marina S. Figueiredo**,
Oswaldo A. B. Rios***.

Keywords: holoprosencephaly, proboscis, brain stem electric response

Holoprosencephaly is a group of craniofacial derangement, from impaired midline cleavage of the embrionic forebrain. The midline facial developmental anomalies, mainly of the eyes and nose are variable and usually reflect the severiry of underlying brain malformation. The frequency of holoprosencephaly is about 1:15000 live births. A clinical report of holoprosencephaly is presented, with comments about the malformations of the nose, central nervous system and an audiologic evaluation by evoked otoacoustic emissons and brain stem electric response. The proband was a girl born after an uneventful pregnancy. The physical examination at birth showed moderate respiratory distress and congenital facial anomalies: hypotelorbitism associated with mild microphtalmia; a rudimentary nasal structure (proboscis) located under the midline orbit, with one nostril and a virtual nasal cavity, without expiratory air flow. Further examination showed no other abnormalities. A CT scan confirmed the holoprosencephaly associated with choanal. The cariotype of peripherical blood was normal: 46,XX. She was submitted to evoked otoacoustic emisson (EOA-DP) and brain stem electric response (BSER) in order to evaluate auditory dysfunction. The EOA-DP presented normal responses and the BSER showed waves P-I through P-III with increased interpeak latencies, with absenc e of P-IV and P-V waves. These responses suggest a severe auditory dysfunction at the 1 high level of brain stem. The patient described fulfills the clinical diagnosis of cebocephaly, accorging to DeMeyer's classification of holoprosencephalie disorders. Due to poor central nervous system function and prognosis, we have choosen a conservative treatment.






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