Neurodegeneration With Brain Iron Accumulation Disorder Mimics Autism

Abstract

This 15-year-old Thai girl who was diagnosed with autism by a child psychiatrist at 3 years of age. She was born to healthy, nonconsanguineous parents. Pregnancy, labor, and delivery were normal, and her neonatal period was uneventful. The patient had normal development until 3 months of age and had a global delay of 12 months compared with normal milestones. When she was one year old, she began to crawl. Her parents noticed her walking on the tips of her toes with ataxia and frequent falls. At 18 months, she spoke only a few words. When she entered the prekindergarten level, her teacher reported that she had a poor attention span, remarking that she could finish her work quickly but that the work was filled with mistakes. The child often played by herself and demonstrated repetitive and stereotypic behavior without imaginative play. Her speech development was slow. She began talking in broken sentences with poor pronunciation and comprehension. At age 3 years, a child psychiatrist diagnosed autism. Six months later, a pediatric neurologist diagnosed autism with spastic diplegia as spasticity increased in her lower extremities. Normal investigations included electroencephalography, auditory brainstem responses, and thyroid function tests. She received physical, occupational, and speech therapy and along with botulinum toxin injections for spasticity. Her first in a series of magnetic resonance imaging (MRI) examinations was performed 18 months after her presentation; it demonstrated abnormally low signal intensity in the globus pallidus, posterior limb of the internal capsule, substantia nigra, and pontine corticospinal tract (Fig 1). The findings were consistent with iron deposition in the brain. The diagnosis of neurodegeneration with brain iron accumulation (NBIA) was made in spite of a lack of the “eye-of-the-tiger” sign. At 5 years 10 months, her spasticity increased, and she lost her ability to walk. Two years later, she lost her sitting balance and developed dysphonia and dysphagia. At 10 years of age, she developed dystonic movements and tonic seizures. At 14 years, her condition FIGURE 1. The initial T2 brain magnetic resonance imaging demonstrated abnormal low signal intensity in globus pallidus and posterior limb of internal capsule.