Gross Motor Function of A Child With Neurodegeneration With Brain Iron Accumulation (NBIA)

Resumen

Introduction. Neurodegeneration with brain iron accumulation (NBIA) involves a group of progressive extrapyramidal disorders characterised by iron accumulation in the brain. Objective. to de­scribe the gross motor function of a child with clinical diagnosis of NBIA. Method. This is a case report involving a 7-year-old child and clinical diagnosis of NBIA. This study evaluated the history of the disease and the neuromotor functions of the child using a neurological physiotherapy evaluation form. The GMFM - Gross Motor Function Measure, a system of quantitative assessment of gross motor function in five broad dimensions, was applied. Case Presentation. Magnetic resonance imaging (MRI) showed the eye-of-the-tiger sign in the me­dial globus pallidus. Clinical examination presented extrapyramidal signs like dystonia, choreoathetosis, dysarthria and visual impairment. In this case, the combination of clinical and MRI findings was con­sistent with NBIA. Results. In the A dimension (down and roll) of GMFM, the child achieve a score of 39 points (76% of the gross mo­tor function); in the B dimension (sit) she achieve a total score of 60 points (30% of the function); in the C dimension (crawl and kneel) she achieve a score of 1 point (2% of the function); in the D dimen­sion (standing position) and in the E dimension (walk, run and jump) she did not score in any item. Conclusion. The significant deficit in proximal stability and frequent extensor dystonic spasms affected the child’s functional performance.