Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay

Long, Michelle T.; Abdeen, Nishard; Geraghty, Michael T.; Hogarth, Penelope; Hayflick, Susan; Venkateswaran, Sunita

doi:10.1542/peds.2015-0750

Cited by 27 publications

(27 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A serial MRI study demonstrated that SWI hypointensity in the GP and SN was observed after 2-7 years old, whereas T2 hypointensity after 4-7 years old (41). Here, the T1 hyperintense signal in the SN was detectable by early in the second decade of life (40,42,43). A characteristic halo sign appears later in the disease course, particularly as parkinsonism becomes evident in early adulthood (1).…”

Section: Substantia Nigra Halo Sign In Bpanmentioning

confidence: 83%

Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation

et al. 2020

Self Cite

View full text Add to dashboard Cite

Most neurodegeneration with brain iron accumulation (NBIA) disorders can be distinguished by identifying characteristic changes on magnetic resonance imaging (MRI) in combination with clinical findings. However, a significant number of patients with an NBIA disorder confirmed by genetic testing have MRI features that are atypical for their specific disease. The appearance of specific MRI patterns depends on the stage of the disease and the patient's age at evaluation. MRI interpretation can be challenging because of heterogeneously acquired MRI datasets, individual interpreter bias, and lack of quantitative data. Therefore, optimal acquisition and interpretation of MRI data are needed to better define MRI phenotypes in NBIA disorders. The stepwise approach outlined here may help to identify NBIA disorders and delineate the natural course of MRI-identified changes.

show abstract

Section: Substantia Nigra Halo Sign In Bpanmentioning

confidence: 83%

Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation

et al. 2020

Self Cite

View full text Add to dashboard Cite

show abstract

“…Cerebral atrophy was observed in four out of seven patients diagnosed with BPAN in their childhood (Table ). It has been reported that iron accumulation in the GP and SN is observed in patients with BPAN preceding neurological deterioration [Ohba et al, ; Okamoto et al, ; Abidi et al, ; Long et al, ]. In a patient reported by Ohba et al [], iron deposition was detected through conventional MRI in the GP and SN in an 11 years old.…”

Section: Discussionmentioning

confidence: 97%

Elevation of neuron specific enolase and brain iron deposition on susceptibility‐weighted imaging as diagnostic clues for beta‐propeller protein‐associated neurodegeneration in early childhood: Additional case report and review of the literature

Takano

Shiba

Wakui

et al. 2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a subtype of neurodegeneration with brain iron accumulation (NBIA). BPAN is caused by mutations in an X-linked gene WDR45 that is involved in autophagy. BPAN is characterized by developmental delay or intellectual disability until adolescence or early adulthood, followed by severe dystonia, parkinsonism, and progressive dementia. Brain magnetic resonance imaging (MRI) shows iron deposition in the bilateral globus pallidus (GP) and substantia nigra (SN). Clinical manifestations and laboratory findings in early childhood are limited. We report a 3-year-old girl with BPAN who presented with severe developmental delay and characteristic facial features. In addition to chronic elevation of serum aspartate transaminase, lactate dehydrogenase, creatine kinase, and soluble interleukin-2 receptor, she had persistent elevation of neuron specific enolase (NSE) in serum and cerebrospinal fluid. MRI using susceptibility-weighted imaging (SWI) demonstrated iron accumulation in the GP and SN bilaterally. Targeted next-generation sequencing identified a de novo splice-site mutation, c.831-1G>C in WDR45, which resulted in aberrant splicing evidenced by reverse transcriptase-PCR. Persistent elevation of NSE and iron deposition on SWI may provide clues for diagnosis of BPAN in early childhood.

show abstract

“…A total of 64 patients were included in the analysis, comprising 55 women (85.9%) and nine men (14.1%) (Tables and ) . Mean age at diagnosis was 27.6 ± 14 years (range 1–52), and mean age at deterioration was 27.2 ± 5.7 (range 13–39).…”

Section: Literature Reviewmentioning

confidence: 99%

Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature

Stige

Gjerde

Houge

et al. 2018

Clinical Case Reports

View full text Add to dashboard Cite

Key Clinical MessageBeta‐propeller protein‐associated neurodegeneration (BPAN) is a rare disorder, which is increasingly recognized thanks to next‐generation sequencing. Due to a highly variable phenotype, patients may present to pediatrics, neurology, psychiatry, or internal medicine. It is therefore essential that physicians of different specialties are familiar with this severe and debilitating condition.

show abstract

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay

Cited by 27 publications

References 8 publications

Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation

Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation

Elevation of neuron specific enolase and brain iron deposition on susceptibility‐weighted imaging as diagnostic clues for beta‐propeller protein‐associated neurodegeneration in early childhood: Additional case report and review of the literature

Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature

Contact Info

Product

Resources

About