Unsupervised Algorithm for Brain Anomalies Localization in Electromagnetic Imaging

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

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DEVELOPMENTAL BRAIN ANOMALIES ASSOCIATED WITH INTRAUTERINE HYDROCEPHALUS

Neuropediatrics ◽

10.1055/s-2006-945601 ◽

2006 ◽

Vol 37 (S 1) ◽

Author(s):

P Humphreys ◽

D Muzumdar ◽

L Sly ◽

E Ventureyra ◽

M Vassilyadi

Keyword(s):

Brain Anomalies

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Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1624 ◽

2021 ◽

Author(s):

Jiasun Su ◽

Weiliang Lu ◽

Mengting Li ◽

Qiang Zhang ◽

Fei Chen ◽

...

Keyword(s):

Congenital Hydrocephalus ◽

Compound Heterozygous ◽

Brain Anomalies

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Association between confirmed congenital Zika infection at birth and outcomes up to 3 years of life

Nature Communications ◽

10.1038/s41467-021-23468-3 ◽

2021 ◽

Vol 12 (1) ◽

Author(s):

Najeh Hcini ◽

Yaovi Kugbe ◽

Zo Hasina Linah Rafalimanana ◽

Véronique Lambert ◽

Meredith Mathieu ◽

...

Keyword(s):

Neurological Impairment ◽

In Utero ◽

In Utero Exposure ◽

Zikv Infection ◽

Neurodevelopmental Delay ◽

Systematic Testing ◽

Brain Anomalies ◽

Increased Risk ◽

Structural Brain

AbstractLittle is known about the long-term neurological development of children diagnosed with congenital Zika infection at birth. Here, we report the imaging and clinical outcomes up to three years of life of a cohort of 129 children exposed to Zika virus in utero. Eighteen of them (14%) had a laboratory confirmed congenital Zika infection at birth. Infected neonates have a higher risk of adverse neonatal and early infantile outcomes (death, structural brain anomalies or neurologic symptoms) than those who tested negative: 8/18 (44%) vs 4/111 (4%), aRR 10.1 [3.5–29.0]. Neurological impairment, neurosensory alterations or delays in motor acquisition are more common in infants with a congenital Zika infection at birth: 6/15 (40%) vs 5/96 (5%), aRR 6.7 [2.2–20.0]. Finally, infected children also have an increased risk of subspecialty referral for suspected neurodevelopmental delay by three years of life: 7/11 (64%) vs 7/51 (14%), aRR 4.4 [1.9–10.1]. Infected infants without structural brain anomalies also appear to have an increased risk, although to a lesser extent, of neurological abnormalities. It seems paramount to offer systematic testing for congenital ZIKV infection in cases of in utero exposure and adapt counseling based on these results.

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A unique case of progressive hemifacial microsomia or Parry-Romberg syndrome associated with limb and brain anomalies with normal neurological findings: A review of the literature.

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2021.104234 ◽

2021 ◽

pp. 104234

Author(s):

Anandita Pattnaik ◽

Alexandra Lim ◽

Sara Sabeti ◽

Ashley Kwon ◽

Katherine Hall ◽

...

Keyword(s):

Hemifacial Microsomia ◽

Review Of The Literature ◽

Unique Case ◽

Neurological Findings ◽

Brain Anomalies ◽

Parry Romberg Syndrome

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Phosphorylation of S6 Protein as a Potential Biomarker in Surgically Treated Refractory Epilepsy

Developmental Neuroscience ◽

10.1159/000514006 ◽

2020 ◽

Vol 42 (5-6) ◽

pp. 230-236

Author(s):

Felipe I. Chodraui ◽

Camila Araújo B. Garcia ◽

Niele D. Mendes ◽

Marcelo V. Santos ◽

Pâmela S. Beggiora ◽

...

Keyword(s):

Refractory Epilepsy ◽

Focal Cortical Dysplasia ◽

Clinical Aspects ◽

Control Group ◽

Type I ◽

Phosphorylated Protein ◽

Downstream Target ◽

Molecular Features ◽

Brain Anomalies ◽

Potential Biomarker

The tuberous sclerosis complex (TSC), focal cortical dysplasia IIB (FCD IIB), and hemimegalencephaly (HME) exhibit similar molecular features that are dependent on the hyperactivation of the mTOR pathway. They are all associated with refractory epilepsy and the need for surgical resection with varying outcomes. The phosphorylated protein S6 (pS6) is a downstream target of mTOR, whose increased expression might indicate mTOR hyperactivation, but which is also present when there is no alteration in the pathway (such as in FCD type I). We have performed immunohistochemical marking and quantification of pS6 in resected brain specimens of 26 patients clinically and histologically diagnosed with TSC, FCD IIB, or HME and compared this data to a control group of 25 patients, to measure the extent of pS6 positivity and its correlation with clinical aspects. Our results suggest that pS6 may serve as a reliable biomarker in epilepsy and that a greater percentage of pS6 marking can relate to more severe forms of mTOR-dependent brain anomalies.

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