Open AccessGross Motor Function of A Child With Neurodegeneration With Brain Iron Accumulation (NBIA)
Author(s) -
Rubia do Nascimento Fuentefria,
Franciane Barbieri Fiório,
Daniela Sposito Dias,
Alexandre Meneghello Fuentefría
Publication year - 2013
Publication title -
revista neurociências
Language(s) - English
Resource type - Journals
eISSN - 1984-4905
pISSN - 0104-3579
DOI - 10.34024/rnc.2013.v21.8153
Subject(s) - globus pallidus , psychology , physical medicine and rehabilitation , dystonia , cerebral palsy , movement disorders , medicine , basal ganglia , neuroscience , disease , pathology , central nervous system
. 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.