Alobar holoprosencephaly

Case contributed by Dennis Odhiambo Agolah
Diagnosis almost certain


Fetal anomaly scan.

Patient Data

Age: 40 years
Gender: Female

Viable single intrauterine pregnancy with the fetus in frank, breech presentation however, with multiple anatomical anomalies including: A large anechoic mono-ventricular anechoic fluid-filled expanse at the posterior cerebral hemisphere compressing the fused thalami bodies at the mid-line accompanied with abrupt termination of the falx cerebri at the thalami level; Tapered/ hypoplastic cavum septum pellucidum; Two small sized anechoic cystic structures at the bilateral choroid plexi; Diffusely elongated fetal skull/ calvarium vault with markedly reduced cephalic index at 58.43 (Normal range at this gestation = 70.00-86.00); Visible fetal upper lip and palate mid-line clefts; Enlarged symmetrically echogenic fetal kidneys with diffuse variable sized anechoic cystic foci areas and associated sub-optimally distended fetal urinary bladder. there is marked oligohydramnios (measurable pocket dept =1.02 cm).

Case Discussion

Multiple congenital fetal anomalies with features advocating for: Alobar holoprosencephaly; Fetal dolichocephaly (cephalic index = 58.43); Compressible/ depressed left upper fetal skull/occipital bone suggesting demineralization or partial ossification and/or with ipsilateral plagiocephaly; Small sized simple choroid plexi cysts; Hypoplastic fetal cavum septum pellucidum; Fetal upper mid-line cleft lip and palate; Bilateral fetal multicystic dysplastic kidney disease; Marked oligohydramnios. A discordance in the fetal biometrics (34 weeks 0 days) compared with the tabulated maternal last menstrual perioid (LMP) gestation (37 weeks 5 days) noted suggests asymmetric intrauterine growth restriction.

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