Dados do Trabalho

Título

INFANTILE NEUROAXONAL DYSTROPHY ASSOCIATED WITH SEIZURES IN A PATIENT FROM A TEACHING HOSPITAL IN SOUTHERN BRAZIL: CASE REPORT

Apresentação do caso

Male, 6 years old, only child of healthy and non-consanguineous parents. Born at term, weighing 3960 g, by cesarean delivery. Under neurological follow-up since 1 year and 4 months of age due to delayed neuro psychomotor development with motor regression between 6-8 months of age. At that time, he had incomplete head support and could not sit or stand. At 3 years of age, he was referred to the Pediatric Neurology service for investigation of tonic seizures that had started 3 months ago, with gaze lateralization to the left, for around 5 minutes, without crying or cyanosis, followed by a period of drowsiness and hypotonia for about 10 minutes. The seizures occurred 1-2 times a day, and phenobarbital was prescribed in external care. On physical examination, epicanthus, spontaneous horizontal nystagmus, tongue fasciculation, hypotonia and global muscle hypertrophy, hyperreflexia in upper and lower limbs, absence of abdominal reflex, bilateral Babinski were identified. He had grade 1 strength in lower limbs and 2 in upper limbs. The child did not sit with support and did not speak. Laboratory tests showed LDH 784, AST 76, ALT 18. The EEG presented alterations due to basal rhythm disorganization with loss of the anteroposterior gradient, in addition to epileptiform activity in the left temporoparietal region. A year later, an extremely disorganized grassroots activity was observed; with severe multifocal irritative activity and intense diffuse ictal activity. The brain MRI showed marked global cerebellar atrophy, cerebellar cortex volumetric reduction, cerebellar sulci and fissures enlargement, bilateral volumetric reduction of the middle cerebellar peduncles and brainstem, in addition to secondary basal cisterns enlargement and IV ventricle prominence. Diagnosis of Infantile Neuroaxonal Dystrophy (INAD) confirmed after identification of variant c.437dup; p.Cys146TrpfsTer19 in exon 4 of the PLA2G6 gene, in homozygosity, causing loss of reading frame from amino acid 146. Currently, the child is bedridden and has no verbal communication. He uses gastrostomy and presents refractory seizures due to an irregular use of anticonvulsants.

Discussão

Generally, the development of babies with INAD starts to slow down between the ages of 6 months to 3 years. The first symptoms are slowing of motor and mental development, followed by loss or regression of previously acquired skills.

Comentários finais

INAD is a rare neurodegenerative disease which significantly shortens a child's life expectancy.

Referências (se houver)

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

The authors report having no conflicts of interest.

Área

Neurogenética