Atypical teratoid rhabdoid tumor (prenatal US and neonatal MRI)

Case contributed by Dr Fabien Ho

Presentation

Uncomplicated standard singleton pregnancy with regular clinical and US follow-up. Physiological delivery at 38WG. At day 1, generalized hypotonia, lack of succion upon breastfeeding.

Patient Data

Age: Day 1, born at 38WG
Gender: Female
Ultrasound

US standard screening until 35WG - posterior fossa and cerebellum assessment

Normal posterior fossa scans at 26WG,32WG and 35WG. Cerebellum biometry and morphology were normal. Sylvian fissure were as according to term, normal cavum.

CT

Day 1 CT after transfontanellar echography showing hydrocephalus

Midline, vermis centered posterior fossa tumor bulging into the 4th ventricle, with obstructive hydrocephalus.
Tumor is heterogenous, with cystic CSF-like densities and spontaneous hemorrhage. No internal calcification. 
Round shape, no spreading through the foramen of Magendie nor the lateral foramens of Luschka.

MRI

MR at Day 1 after CT

Midline, vermis centered posterior fossa tumor bulging into the 4th ventricle, with obstructive hydrocephalus. Hemorrhage within the occpital horns of lateral ventricles due to external ventricular drains.
Tumor is heterogenous, with cystic CSF-like densities and spontaneous hemorrhage well seen on T2*. DWI is non contributive due to hemorrhage. No internal calcification on CT.
Round shape, no spreading through the foramen of Magendie nor the lateral foramens of Luschka.
Peripheral enhancement.

Case Discussion

This is a case of a rapidly progressive posterior fossa tumor diagnosed on day 1 in a term newborn, which narrows down the list of possible diagnoses by a long way. Molecular genetics on pathology were typical of an atypical teratoid rhabdoid tumor.

As always in tumors, the location and age at diagnosis are key features. Posterior fossa tumors in children usually lead to possible diagnoses:

  • pilocytic astrocytoma
  • ependymoma
  • medulloblastoma

AT/RT stands for atypical teratoid rhabdoid tumour. It mimics medulloblastoma with its round shape and midline location. However, medulloblastoma are usually found in older children around 10 years of age, with high cellularity, DWI restriction, and is rarely hemorraghic and heterogenous. On the other hand, AT/RT is almost exclusively found in newborns and neonates up to 2 years of age and is frequently heterogenous. Tumor progression is rapid, as expected from embryonal malignant tumors, and the prognosis is poor. This tumor is associated with rhabdoid tumor predisposition syndrome, a genetic autosomal dominant condition which is in most cases de novo.

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Case information

rID: 59091
Published: 20th Mar 2018
Last edited: 16th Jul 2018
Inclusion in quiz mode: Included

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