Dados do Trabalho

Título

INFANTILE NEUROAXONAL DYSTROPHY (INAD): A CASE REPORT

Apresentação do caso

CASE REPORT: A previously healthy 3-year-old girl was admitted with a history of loss
of developmental milestones since 18 months of age. So far, only language delay had
been noticed. It evolved from then on, with frequent falls, incoordination, and truncal
hypotonia. Throughout the next year, she lost the ability to walk. During the same year,
she began to have episodes of tonic seizures, with partial control after the introduction
of levetiracetam. When examined, there was severe global hypotonia, with strabismus
and nystagmus. During the investigation, it was identified diffuse cerebellar atrophy in
the MRI. In addition, there was elevated aspartate aminotransferase (AST)/ alanine
aminotransferase (ALT) ratio and elevated lactate dehydrogenase (DHL). At the
moment of the initial investigation, there was no optic atrophy. The molecular genetic
testing showed biallelic pathogenic variants in PLA2G6 in homozygosis.

Discussão

DISCUSSION
Phospholipase A2 group VI (PLA2G6)- associated neurodegeneration (PLAN) is
associated with two childhood neurologic disorders: infantile neuroaxonal dystrophy
(INAD) and atypical neuroaxonal dystrophy (atypical NAD). The most common
presentation during the first years of life is infantile neuroaxonal dystrophy (INAD) which
usually begins between the ages of six months and three years with psychomotor
regression or delay, hypotonia, and progressive spastic tetraparesis. Commonly, there
is strabismus, nystagmus, and optic atrophy. Disease progression is rapid, leading to
loss of the ability to walk, progressive cognitive decline, and visual impairment.
Typically, there is an elevated AST/ALT ratio and increased levels of DHL. The
neuroimages can show cerebellar atrophy and a hypointense globus pallidus in T2 MRI,
indicating iron accumulation.
Before the onset of genetic testing, the establishment of the diagnosis was based on the
clinical features and tissue biopsy, with the evidence of dystrophic axons. Nowadays,
the use of molecular testing with the identification of biallelic pathogenic variants in
PLA2G6 confirms the diagnosis.

Comentários finais

CONCLUSION: This case describes INAD, one of the phenotypes of PLAN. It has been
associated with psychomotor regression, early truncal hypotonia, and visual
abnormalities. The knowledge about its evolution contributes to the development of
therapeutic possibilities in the future and the adequate management and orientation of
the child and its family.

Referências (se houver)

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Não há.

Área

Neurogenética