Beta-Propeller Protein-Associated Neurodegeneration (BPAN) Detected in a Child with Epileptic Spasms.

Document Type

Article

Publication Date

8-16-2019

Publication Title

Cureus

Abstract

This report discusses a 13-year-old girl diagnosed with beta-propeller protein-associated neurodegeneration (BPAN). BPAN is an X-linked neurodegeneration disorder associated with a mutation in the WDR45 gene. It typically presents in childhood with encephalopathy, developmental delay, and seizures. Following an initial static phase, these symptoms then progress to dementia, dystonia, and parkinsonism in early adulthood. Our child initially presented with epileptic spasms, global developmental delay, speech delay, hypotonia, spasticity, scoliosis, and gait disturbance. While these symptoms remained unchanged in early childhood, they depicted accelerated deterioration at age 12-13 rather than in adulthood. Her diagnosis was made based on her clinical presentation and review of imaging that led to specific genetic testing confirming the condition. The imaging findings were of markedly low signal on gradient T2* sequences in the globus pallidus and substantia nigra and T1 hyperintensity in the substantia nigra, with associated diffuse brain volume loss. Unlike other cases reported in the literature, there was no classic area of central hypointensity on T1 imaging in the substantia nigra.

Volume

11

Issue

8

First Page

5404

Last Page

5404

DOI

10.7759/cureus.5404

ISSN

2168-8184

PubMed ID

31632858

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