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  • Title: Holoprosencephaly with Dandy-Walker cyst. Rare coexistence of two major malformations.
    Author: Kurokawa Y, Tsuchita H, Sohma T, Kitami K, Takeda T, Hattori S.
    Journal: Childs Nerv Syst; 1990 Jan; 6(1):51-3. PubMed ID: 2178775.
    Abstract:
    A case of holoprosencephaly associated with Dandy-Walker cyst is reported. The patient was a male baby whose mother had normal serum titers for toxoplasma, syphilis, rubella and hepatitis B. She had no history of diabetes mellitus, administration of drugs or irradiation during the pregnancy. At the 8th month of gestation, fetal hydrocephalus was diagnosed by ultrasonic imaging. He was delivered by caesarean section at 34 weeks and 4 days, weighing 2,644 g. His head circumference was 42 cm; the anterior fontanel was not distended and its tension was normal. The chromosomal karyotype was a normal 46 XY. X-ray CT showed a large dorsal sac cyst in the supratentorial space and a hypoplastic cerebellum with a large cyst in the posterior fossa. He received a cyst-peritoneal shunt 24 days after birth. After this procedure, his head enlargement was arrested. We discuss the etiology of this rare coexistence of two major malformations.
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