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Título

Infantile neuroaxonal dystrophy: report of two sisters

RESUMO

CASE PRESENTATION
We present a case report of sisters with infantile neuroaxonal dystrophy (INAD), one of them was diagnosed. Both are daughters of non-consanguineous parents and there were no complications during pregnancy and childbirth.
Case 1: female, 7 years and 7 months, the onset of symptoms at 9 months, with difficulty in crawling, convergent strabismus, and hyperopia. Progressive worsening of symptoms: at 2 and a half years she developed loss of cephalic support and at 5 years started clonus in all four limbs. Physical examination without interaction with the environment, the neck was in hyperextension, without cephalic support. She had nystagmus, temporal optic nerve pallor, muscle atrophy, reduced strength, and generalized spastic hypertonia. MRI revealed changes in cerebellar volume and subtle hyper signal on T2 and FLAIR. Molecular analysis by exome sequencing was performed and two heterozygous variants in the PLA2G6 gene were identified. The association of exams with the clinical picture confirmed the diagnosis.
Case 2: female, 3 years and 10 months, the onset of symptoms at 2 years, with difficulty in walking. Progressive worsening of the condition resulting in motor incoordination and speech impairment, and inability to walk and sit without support. Physical examination with interaction with the environment, nystagmus, convergent strabismus and no changes in the optic disc. She had muscle atrophy, generalized hypotonia, and appendicular and axial dysmetria. Absence of tremors and clonus. Laboratory tests without changes. The patient awaits exome performance to clarify the diagnosis but receives the same treatment as her sister.

DISCUSSION
INAD is an autosomal recessive neurodegenerative pathology associated with mutation of PLA2G6 gene. It is rare and has a poor prognosis, whose symptoms are marked by regression of neuropsychomotor development and neurological impairment, gait disorders, extrapyramidal symptoms, and ophthalmological abnormalities, with rapid and progressive evolution, usually fatal.
Both cases have characteristics like those found in the literature: onset of symptoms (average of 14 months, with a range of 12-22), characteristic clinical picture and progressive worsening, no type of complications during pregnancy and childbirth, and non-consanguineous parents.

FINAL COMMENTS
Even presenting similar characteristics to other reports, the cases bring important data that aggregate INAD study, in search of better prognosis and conduct.

Palavras Chave

Neuroaxonal Dystrophies