Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism.
The most frequent cause of ventriculomegaly is spina bifida when associated with Arnold-Chiari type II malformation. We report on a prenatal diagnosis of severe ventriculomegaly in association with spinal dysraphism that was indicative of a Currarino syndrome (CS) due to a c.584delA, p.H195fsX28 truncated mutation within the HLXB9 gene. Physiopathology of the ventriculomegaly is discussed in reference to the fetopathological examination and CS embryopathology. In the present case, prognosis was poor and pregnancy termination was authorized. However, such a decision may be controversial in fetuses with less severe malformations on sonographic examination, since mutations in the HLXB9 gene can predict neither the severity nor the long-term prognosis of the disease. Due to a lack of genotype-phenotype correlation and the broad variability of phenotype in heterozygotes, clinical and genetic investigations among relatives are mandatory in all HLXB9 gene mutation cases, to detect asymptomatic CS cases and to prevent the occurrence of severe complications.
Crétolle
C
C
Département de Génétique, Hôpital Necker-Enfants Malades and INSERM U781, Paris, France.
Sarnacki
S
S
Amiel
J
J
Geneviève
D
D
Encha-Razavi
F
F
Zrelli
S
S
Zérah
M
M
Nihoul Fékété
C
C
Lyonnet
S
S
D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005817:Genetic Counseling; D005820:Genetic Testing; D006325:Heart Atria / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D011379:Prognosis; D016135:Spinal Dysraphism / Q000175:diagnosis*; D013577:Syndrome