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Título

Labrune Syndrome: Case Report of an rare genetic encephalopathy

RESUMO

Our patient is a young man with a normal development and previously healthy until 30 years old, when he presented a clinical picture of a subacute intracranial hypertension characterized by progressive headaches, vomiting, gait difficulties and papilledema. At the time, he was seen by a neurosurgery team at another hospital, and after going through a CT scan and a brain MRI, was suspected to have an intracranial tumor of the right frontal lobe. He underwent surgery for drainage of the lesion and a biopsy was performed, that later came inconclusive. He responded well to the procedure and was relieved of his symptoms.
2 months later, he came to our hospital after having two episodes of a focal to generalized tonic clonic seizure. While doing the workup for the seizure disorder, our team reviewed the images and noted an aspect of diffuse leukoencephalopathy with cysts, and asked our pathology team to look at the biopsy, noting and chronic gliosis with Rosenthal fibers. The patient underwent and genetic testing that excluded COATS syndrome. Overall, the findings were consistent with Labrune Syndrome, an extremely rare form of genetic encephalopathy.
The patient remained asymptomatic with seizures controlled by low doses of antiepileptic drugs for 7 years, when he again presented with a clinical picture of intracranial hypertension and imaging exams revealed formation of new cysts over the cerebral hemispheres, cerebellum and brainstem. The neurosurgery team at our hospital decided to place a ventriculoperitoneal shunt this time, for which the patient responded well. At the same time, the family agreed to do genetic testing specific for Labrune Syndrome, which confirmed the diagnosis.

Labrune Syndrome is a rare genetic disorder that is characterized by the triad of encephalopathy, brain cysts and calcifications. It was described first by Labrune et al. in 1996, and was for a while though to be related to the syndrome of cerebroretinal microangiopathy with calcifications and brain cysts, but later the genetic mutation specific for Labrune was discovered to be the SNORD 118 mutation, and these patients, as our own, do not have retinal telangiectasias as would be expected in the COATS syndrome.
Due to its rarity, there are no large studies that give information about natural history, life expectancy and prognosis of the syndrome.

Palavras Chave

LABRUNE LEUCOENCEFALOPATIA

Área

Neurogenética