Dados do Trabalho

Título

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION RELATED TO THE WDR45 GENE: A CASE REPORT WITH EARLY SYMPTOMATOLOGICAL MANIFESTATION AND ATYPICAL IMAGING FINDINGS

Apresentação do caso único

The case presentation involves a 15-month-old female patient with delayed neuropsychomotor development, sleep difficulties, and a history of focal seizures. Born small for gestational age and initially breastfed, she transitioned to formula and solid foods. Developmental milestones included rolling over at 8 months, sitting independently at 15 months, and babbling at 10 months, but speech delays persisted. Physical examination revealed a café au lait mark, reduced head circumference, signs of extreme thinness, and muscular weakness in the lower limbs. Laboratory tests indicated elevated liver enzymes initially, subsequently normalized, and positive CMV serology.

Discussão

An MRI at 15 months revealed reduced myelin in the corona radiata, posterior subcortical white matter, and cerebellar white matter, suggesting neurodegeneration due to iron accumulation (NBIA 5, WDR45 gene mutation). This rare genetic disorder affects iron metabolism, impacting neurological development. The WDR45 gene, implicated in autophagy and iron homeostasis, results in neurodegeneration when mutated. Clinical symptoms typically progress from early neurological signs to later parkinsonism and dementia.

Comentários finais

The patient receives multidisciplinary care including neurology, gastroenterology, physiotherapy, speech therapy, and psychiatry. Treatment focuses on symptom management due to the absence of curative therapies. This case contributes novel insights, as the MRI findings deviated from typical NBIA patterns, highlighting diagnostic challenges and expanding the literature on early presentations of the disease.

Referências

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Fonte de Fomento (se houver)

Palavras Chave

WDR45; Neurodegeneration with Brain Iron Accumulation; Pediatrics