What question did this study set out to answer?

To describe a pediatric presentation of Brown–Vialetto–Van Laere syndrome 2 featuring severe erythroid hypoplasia and erythroblast vacuolation that was misdiagnosed as Diamond Blackfan anemia.

May 2, 2023Pediatric Blood & CancerOpen Access

Severe erythroid hypoplasia and erythroblast vacuolization in a male with Brown–Vialetto–Van Laere syndrome 2 misdiagnosed as Diamond Blackfan anemia

View Full Paper

Ask AI

Bookmark

Authors

YCYanxia ChenSouthern Medical University Shenzhen Hospital JZJiwei ZhaoUniversity of Wisconsin–Madison AMAidan Patrick McLindenEmory University

Discussion

Member takes

Implication

Case report demonstrates reversible erythroid hypoplasia and erythroblast vacuolization in a child with Brown–Vialetto–Van Laere syndrome 2, highlighting the diagnostic value of bone marrow...

Key Points

To describe a pediatric presentation of Brown–Vialetto–Van Laere syndrome 2 featuring severe erythroid hypoplasia and erythroblast vacuolation that was misdiagnosed as Diamond Blackfan anemia.
A longitudinal clinical, morphological, and genetic analysis was performed for a male presenting at 11 months of age with severe normochromic anemia (hemoglobin 43 g/L) and later progressive neuromuscular decline at 4.5 years.
Workup included bone marrow aspiration cytology, targeted anemia gene panels, neuromuscular next-generation sequencing, and therapeutic trial of oral riboflavin supplementation (20–30 mg/day).
Next-generation sequencing identified compound heterozygous pathogenic variants in the SLC52A2 gene (c.350T>C, p.Leu117Pro and c.1135_1137delTGG, p.W379del), establishing riboflavin transporter deficiency after 3.5 years of misdiagnosis.
Targeted riboflavin therapy increased hemoglobin concentration from 43 g/L to 139 g/L within 2 months, resolved bone marrow erythroid hypoplasia and vacuolization at 3 months, and restored deep tendon reflexes and unassisted walking at 2-year follow-up.

Cite This Study

Chen et al. (2023) studied this question.

synapsesocial.com/papers/6a734d1803bfdad20fc67831 https://doi.org/10.1002/pbc.30396

View Full Paper

Ask AI

Bookmark

Implication

Case report demonstrates reversible erythroid hypoplasia and erythroblast vacuolization in a child with Brown–Vialetto–Van Laere syndrome 2, highlighting the diagnostic value of bone marrow...

Severe erythroid hypoplasia and erythroblast vacuolization in a male with Brown–Vialetto–Van Laere syndrome 2 misdiagnosed as Diamond Blackfan anemia

Discussion

Member takes

Implication

Key Points

Cite This Study

Severe erythroid hypoplasia and erythroblast vacuolization in a male with Brown–Vialetto–Van Laere syndrome 2 misdiagnosed as Diamond Blackfan anemia

Discussion

Member takes

Implication

Key Points

Cite This Study

Also Consider

Also Consider