Related Experiment Video

Updated: Sep 30, 2026

Permanent Cerebral Vessel Occlusion via Double Ligature and Transection
08:22

Permanent Cerebral Vessel Occlusion via Double Ligature and Transection

Published on: July 21, 2013

Congenital bilateral perisylvian syndrome associated with congenital constriction band syndrome

Hideo Yamanouchi1, Takako Ota, George Imataka

  • 1Department of Pediatrics, Dokkyo University School of Medicine, Tochigi, Japan. yhideo@dokkyomed.ac.jp

Journal of Child Neurology
|August 15, 2002
PubMed

Insights

This study presents a rare case of a boy with congenital bilateral perisylvian syndrome and congenital constriction band syndrome. Chronic abruptio placentae may explain the co-occurrence of these congenital disorders.

Area of Science:

  • Neurology
  • Genetics
  • Developmental Biology

Background:

  • Congenital bilateral perisylvian syndrome (CBPS) is a neurological disorder characterized by pseudobulbar palsy, intellectual disability, epilepsy, and polymicrogyria.
  • Congenital constriction band syndrome (CCBS) is a malformation involving digital constrictions and amputations, often attributed to amniotic band disruption.

Observation:

  • A 7-year-old boy presented with symptoms of both CBPS and CCBS.
  • The patient exhibited features of pseudobulbar palsy, mental retardation, epilepsy, and bilateral perisylvian polymicrogyria.
  • Digital anomalies consistent with CCBS were also noted.

Findings:

  • The co-occurrence of CBPS and CCBS in this patient suggests a potential shared etiology.
  • Chronic abruptio placentae is proposed as a unifying factor, potentially causing fetal circulatory disturbances leading to both conditions.

Implications:

  • This case highlights the possible link between placental complications and the development of complex congenital malformation syndromes.
  • Understanding this association could inform future research into the pathophysiology of these disorders.
  • Further investigation is warranted to explore the role of placental insufficiency in syndromic malformations.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Concept Videos

Prosopagnosia01:24

Prosopagnosia

Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...