All issues > Volume 35(3); 1992

Case Report

J Korean Pediatr Soc. 1992;35(3):390-394. Published online March 15, 1992.

A Case of Holoprosencephaly, Alobar Type

Kyu Sun KS CHoi¹, Kang Seo KS Park¹, Young Tack YT Jang¹, Wan Seob WS Kim¹

¹Department of Pediatircs, Presbyterian Medical Center, Jeonju, Korea

Abstract

A case of Holoprosencephaly, alobar type , was presented here and 13-month follow-up has been made. He had dyspnea, polikilothermia, frequent atypical seizures, hypernatremia & pitressinresponsive Diabetes insipidus as clinical manifeststions. Chromosome studies showed normal male karyotype (46XY). The diagnosis was confirmed by brain CT scan. A brief review of the related literature was made.

Keywords :Holoprosencephaly, Alobar type, Pitressine-responsive, Diabetes insipidus