Multiple brain abscesses in an extremely preterm infant and a 12-year follow up: a case report

Abstract Background Brain abscesses are uncommon but life-threatening in extremely preterm (EP, Gestational Age &lt; 28 weeks) infants. The information of long-time follow-up is rare, but very few cases presented almost intact neural function after injury. Case presentation We report the clinical course and the outcome of a 27-week preterm infant with multiple brain abscesses. The brain abscesses were detected by cranial magnetic resonance imaging (MRI) and were treated with surgical aspiration twice and a 7-week course of intravenous antibiotics. The patient had two episodes of seizure like activities at 8 and 11 years old respectively, whereas she had normal results of electroencephalogram (EEG). MRI showed encephalomalacia and periventricular leukomalacia. Otherwise, she had no obvious neurological deficits based on multiple physical examination and her intellectual quotient (IQ) was in normal range in the long-time follow-up. Conclusions Early diagnosis of brain abscesses and appropriate therapy can improve the prognosis. Furthermore, this case report provides an example of the possible neuroplasticity of brain in EP infants. </jats:sec

Multiple Brain Abscesses in an Extremely Preterm Infant and a 12-Year Follow Up: A Case Report

Abstract Background: Brain abscesses are uncommon but life-threatening in extremely preterm (EP, Gestational Age&lt;28 weeks) infants. The information of long-time follow-up is rare. And very few cases presented almost intact neural function after injury. Case presentation: We report the clinical course and the outcome of a 27-week preterm infant with multiple brain abscesses. The brain abscesses were detected by cranial magnetic resonance imaging (MRI) and were treated with surgical aspiration twice and a 7-week course of intravenous antibiotics. The patient had two episodes of seizure like activities at 8 and 11 years old respectively, whereas she had normal results of electroencephalogram (EEG). MRI showed encephalomalacia and periventricular leukomalacia. Otherwise, she had no obvious neurological deficits based on multiple physical examination and her intellectual quotient (IQ) was in normal range in the long-time follow-up. Conclusions: Early diagnosis of brain abscesses and appropriate therapy can improve the prognosis. Furthermore, it was a surprise for us to witness the great neuroplasticity of brain in an EP infant.</jats:p

Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1

Cerebral adrenoleukodystrophy (CALD) is a fatal genetic disease characterized by rapid, devastating neurological decline, with a narrow curative treatment window in the early stage. Non-canonical splice-site (NCSS) variants can easily be missed during genomic DNA analyses, and only a few of them in ABCD1 have been explored. Here, we studied a Chinese patient with clinical features similar to those of early-stage CALD but with a negative molecular diagnosis and a sibling who had presumably died of CALD. Trio-based whole-exome sequencing (trio-WES) and RNA sequencing (RNA-Seq) revealed a novel hemizygote NCSS variant c.901-25_901-9 del in ABCD1 intron 1, resulting in a complex splicing pattern. The in vitro minigene assay revealed that the c.901-25_901-9 del construct contained two aberrant transcripts that caused skipping of exon 2 and a small 48-bp deletion on left of the same exon. We identified a novel NCSS variant, that extends the spectrum of the known ABCD1 variants, and demonstrated the pathogenicity of this gene variant. Our findings highlight the importance of combining RNA-Seq and WES techniques for prompt diagnosis of leukodystrophy with NCSS variants.</jats:p

Identification of a Novel Non-Canonical Splice-Site Variant in <i>ABCD1</i>

Cerebral adrenoleukodystrophy (CALD) is a fatal genetic disease characterized by rapid, devastating neurological decline, with a narrow curative treatment window in the early stage. Non-canonical splice-site (NCSS) variants can easily be missed during genomic DNA analyses, and only a few of them in ABCD1 have been explored. Here, we studied a Chinese patient with clinical features similar to those of early-stage CALD but with a negative molecular diagnosis and a sibling who had presumably died of CALD. Trio-based whole-exome sequencing (trio-WES) and RNA sequencing (RNA-Seq) revealed a novel hemizygote NCSS variant c.901-25_901-9 del in ABCD1 intron 1, resulting in a complex splicing pattern. The in vitro minigene assay revealed that the c.901-25_901-9 del construct contained two aberrant transcripts that caused skipping of exon 2 and a small 48-bp deletion on left of the same exon. We identified a novel NCSS variant, that extends the spectrum of the known ABCD1 variants, and demonstrated the pathogenicity of this gene variant. Our findings highlight the importance of combining RNA-Seq and WES techniques for prompt diagnosis of leukodystrophy with NCSS variants