Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy WithoutSOX3Expression

2013 ◽  
Vol 161 (5) ◽  
pp. 1137-1142 ◽  
Author(s):  
Johan Robert Helle ◽  
Tuva Barøy ◽  
Doriana Misceo ◽  
Øivind Braaten ◽  
Madeleine Fannemel ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Mild Developmental Delay ◽  
Brain Anomalies ◽  
Structural Brain

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

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.

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG

2004 ◽  
Vol 13 (4) ◽  
pp. 257-260 ◽  
Author(s):  
Arpad Matlary ◽  
Trine Prescott ◽  
Bj??rn Tvedt ◽  
Knut Lindberg ◽  
Andres Server ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Mild Developmental Delay ◽  
Aicardi Syndrome

scholarly journals PTCH1 duplication in a family with microcephaly and mild developmental delay

2008 ◽  
Vol 17 (2) ◽  
pp. 267-271 ◽  
Author(s):  
Katarzyna Derwińska ◽  
Marta Smyk ◽  
Mitchell Lance Cooper ◽  
Patricia Bader ◽  
Sau Wai Cheung ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Mild Developmental Delay

scholarly journals Cerebrofacial Venous Anomalies, Sinus Pericranii, Ocular Abnormalities and Developmental Delay

2012 ◽  
Vol 18 (2) ◽  
pp. 153-157 ◽  
Author(s):  
B. MacIt ◽  
P.E. Burrows ◽  
S. Yilmaz ◽  
D. B. Orbach ◽  
J.B. Mulliken ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Seizure Disorder ◽  
Vascular Anomalies ◽  
Clinical Implications ◽  
Slow Flow ◽  
Ocular Abnormalities ◽  
Sinus Pericranii ◽  
Venous Anomalies ◽  
Mild Developmental Delay

The clinical implications of venous cerebrovascular maldevelopment remain poorly understood. We report on the association of cerebrofacial venous anomalies (including sinus pericranii), ocular abnormalities and mild developmental delay in two children. In addition, one child had a seizure disorder. Complex cerebrofacial slow-flow vascular anomalies may herald an underlying developmental aberration affecting the cerebrofacial and orbital regions.

scholarly journals MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Bin Zhang ◽  
Michel Liu ◽  
Chin-To Fong ◽  
M. Anwar Iqbal
Keyword(s):  
Developmental Delay ◽  
Cleft Lip ◽  
Point Mutations ◽  
Recurrence Risk ◽  
Gene Deletions ◽  
Genomic Deletion ◽  
Mild Developmental Delay ◽  
Cleft Lip Palate ◽  
Transcription Regulators ◽  
Unaffected Parent

AbstractMEIS2 (Meis homeobox 2) encodes a homeobox protein in the three amino acid loop extension (TALE) family of highly conserved homeodomain-containing transcription regulators important for development. MEIS2 deletions/mutations have been associated with cleft lip/palate, dysmorphic facial features, cardiac defects, as well as intellectual disability at a variable severity. Here we report on one familial case that two affected siblings carry the same non-mosaic ~ 423 kb genomic deletion at 15q14 encompassing the entirety of CDIN1 and the last three exons (ex. 10, 11, 12) of the MEIS2 gene, while their unaffected father is mosaic for the same deletion in about 10% lymphocytes. Both siblings presented with mild developmental delay and bifid uvula, while no congenital cardiac abnormalities were identified. The elder sister also showed syncopal episodes and mild speech delay and the father had atrial septal defects. This is the first report showing multiple family members inherit a genomic deletion resulting in a MEIS2 partial truncation from a mosaic parent. Taken all together, this study has important implications for genetic counseling regarding recurrence risk and also points to the importance of offering MEIS2 gene tests covering both point mutations and microdeletions to individuals with milder bifid uvula and developmental delay.

Ethical challenges of modern psychiatric neurosurgery

2017 ◽  
Author(s):  
Sabine Müller
Keyword(s):  
Psychiatric Disorders ◽  
Focused Ultrasound ◽  
Neurosurgical Procedures ◽  
Ethical Challenges ◽  
Brain Anomalies ◽  
Pros And Cons ◽  
Treatment Refractory ◽  
Established Treatment ◽  
Structural Brain ◽  
Deep Brain

Psychiatric neurosurgery is defined as neurosurgery for treating psychiatric disorders that do not have identified structural brain anomalies. Early psychiatric neurosurgery procedures such as lobotomy became discredited in the 1970s because of severe complications. After a nearly 30-year hiatus until the late 1990s, psychiatric neurosurgery experienced a revival. Today, modern psychiatric neurosurgery is more precise and safer than its historical predecessors. Deep brain stimulation has become an established treatment for treatment-refractory Parkinson’s disease, and has been tested in several hundreds of patients with different psychiatric disorders. Reports about its successful application have also stimulated the development and application of ablative psychiatric neurosurgery such as thermal or radiofrequency ablation, as well as Gamma Knife® radiosurgery and magnetic resonance-guided focused ultrasound. This chapter analyzes the pros and cons of a range of different existing and emerging psychiatric neurosurgical procedures and evaluates them ethically.

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