The presence of some radiological features in NBIA such as the "eye of the tiger" sign, (1,5) might be helpful in diagnosing a specific NBIA subtype.
Additionally, to the best of our knowledge, these are the first reported cases of genetically confirmed NBIA in Oman.
Although there are heterogeneous NBIA phenotypes due to different gene mutations, some clinical features remain consistent such as progressive dystonia, dysarthria, and rigidity.
Most of the genetically defined types of NBIA are inherited in an autosomal recessive manner.
Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).