Dados do Trabalho

Título

FIRST CASE REPORT OF BROWN-VIALETTO-VAN LAERE ASSOCIATED WITH DYSTONIA AND CHOREA

Apresentação do caso único

A.E.G.A, 10 months old, female,
Born by caesarean section, full-term, with no perinatal complications, no need for prolonged
hospitalization, daughter of non-consanguineous parents from different cities;
She presented with intermittent and recurrent fever, which began at 25 days of age. Since the
first month of life, she has also shown significant irritability, which persisted until she was 2
months old, when she was admitted to continue the etiological investigation into the
aforementioned events associated with delayed neuropsychomotor development.
During her hospital stay, while still in the emergency department, she had a paroxysmal episode
with cyanosis and cephalic version lasting around 15 minutes during a high fever (40.5°C).
During the child neurology assessment, it was hypothesized that the irritability presented by the
child was actually cervical and appendicular dystonic episodes. An investigation was carried out
with an electroencephalogram and magnetic resonance imaging with no alterations.
After being discharged from the service, she again developed febrile episodes and was
readmitted to another pediatric reference service in the state for further investigation.
During the neurology assessment, with a minor at 4 months on this occasion, significant axial
and appendicular hypotonia was observed, with strength assessed at grade three in the bedside
maneuver (raising limbs only up to the body line), with persistence of batrachian posture at rest
and fall of the cephalic pole in the drag maneuver, dystonic head and limb movements, irritability
with manipulation and absence of a social smile, presence of intermittent tongue fasciculations,
bilateral cochleopalpebral reflex hypoactivity and absence of blinking on threat.

Discussão

An exome was performed which showed homozygosity of the SLC52A2
gene (2 copies), a result compatible with the diagnosis of Brown-Vialetto-van Laere 2 syndrome.
Gradual replacement of riboflavin was started, with an increase in the dose to a maximum of 50
mg/kg/day, with progressive improvement in symptoms, evolving with increased voluntary
movements and rolling to one side alone in bed, with no report of intolerance to the use of the
replacement.

Comentários finais

To our knowledge, this is the first case report in which the clinical manifestation of the disease is a movement disorder characterized by dystonia and chorea.

Referências

Allison T, Roncero I, Forsyth R, Coffman K, Pichon JL. Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature. J Child Neurol. 2017 May;32(6):528-532.

Palavras Chave

brown-vialetto; dystonia; chorea