Hydranencephaly

Case contributed by Raul Emilio Vleeschower Carvajal
Diagnosis certain

Presentation

Delayed psychomotor development, currently under study for seizures refactoring to treatment

Patient Data

Age: 7 years
Gender: Female
ct

There is generalized ectasia of the supratentorial ventricular system, showing occupation by liquid content obliterating encephalic parenchyma which looks scanty without adequate differentiation of gray and white matter, basal ganglia and thalamus are not visible, only the remnant of the cerebral falx.

Both cerebellar hemispheres with a prominence of their folds as evidence of atrophy at this level.

At the level of the cranial vault, frontal bone with a triangular disposition probably secondary to metopic fusion; dental arches with impaction of erupted teeth with altered occlusion at the level of central and lateral incisors as well as canines.

Case Discussion

Hydranencephaly is a rare brain malformation characterized by the total or partial cerebral absence of the cortex that specifically affects the cerebral hemispheres, leaving the skull and meninges completely intact.

Typically, the disease presents with developmental delay, drug-resistant seizures, spastic diplegia, severe growth deficit, deafness, and blindness.

The case presented of a seven-year-old patient who had not been adequately evaluated who was requested a simple skull tomography to rule out structural alterations and in which hydranencephaly was evidenced, as well as malformation of the bone cranial vault and the dental arch, that could suggest a genetic syndrome.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.