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NBIA-5 with WDR45 gene mutation - Clinical and Neuroimage Findings

RESUMO

Presentation of the case:
We report the case of a female 33 years old who developed seizures at eight months of age, being treated with anticonvulsants suspended at one year and eight months of life. In the past pathological history, she had delayed development, gait, and speech. At school, presented cognitive development delay without other motor alterations. At 32, she complained of sleep disorders and significant bilateral parkinsonism, treated as a Dandy-Walker variant with parkinsonism. Initially, she had an excellent response to levodopa. In the following months, she developed headaches, psychiatric involvement with depressive mood, and a worsening of the neurodegenerative condition with an intensification of parkinsonism, cervical dystonia, cognitive deterioration, and disturbances in sleep cycles. The Complete Exome sequencing identified a heterozygous mutation in the WDR45 gene, confirming the diagnosis of neurodegeneration with brain iron accumulation type 5 (NBIA5). The patient was submitted to a brain MRI that was considered normal. However, a posterior neuroimaging analysis revealed a hypersignal on T1 and hyposignal on T2 in the substantia nigra, typical findings of NBIA5. The patient still has progressive balance worsening, difficulty in gait, cognitive decline, parkinsonism, and cervical dystonia.
Discussion:
NBAI5 is a group of inherited neurodegenerative diseases characterized by iron deposition in the basal ganglia. Patients with mutations in the WRD45 gene are characterized by delayed development in early childhood, mainly in language and motor skills, followed by a period of stability and later neurodegenerative manifestations. As in the literature, the patient showed an excellent response to levodopa in the initial adulthood period, but these effects were of short duration. NBIA5 syndrome still lacks data in the literature on the subject.
Comments:
Based on the case presented and the literature review, it is suggested that NBIA5 be inserted as a differential diagnosis for neurological disorders in patients with developmental delay in childhood and parkinsonism in early adulthood. We present the typical neuroimage findings that must bring to mind this rare diagnosis.

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