Related Experiment Video

Updated: Oct 2, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

Autosomal recessive polymicrogyria with infantile spasms and limb deformities

F Ciardo1, N Zamponi, N Specchio

  • 1Department of Neurosciences, Paediatric Neurology, Tor Vergata University of Roma, Roma, Italy.

Neuropediatrics
|March 1, 2002
PubMed

Insights

Two siblings presented with polymicrogyria, limb deformities, infantile spasms, and developmental delay. Their shared, severe symptoms suggest a rare autosomal recessive malformation syndrome.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Describes a rare genetic disorder affecting siblings.
  • Highlights the importance of identifying genetic causes for developmental disorders.

Observation:

  • Two siblings (girl, 4 years; boy, 2 years 10 months) presented with identical, severe symptoms.
  • Symptoms included diffuse polymicrogyria, lower limb deformities, infantile spasms, and global developmental delay.

Findings:

  • Infantile spasms responded well to antiepileptic drug treatment.
  • Normal results were observed in muscle biopsy, creatine kinase levels, metabolic investigations, and chromosomal analysis.
  • The unique combination of features and familial occurrence suggests an autosomal recessive inheritance pattern.

Implications:

  • This case suggests a novel autosomal recessive malformation syndrome.
  • Further research is needed to identify the specific genetic mutation.
  • Understanding this syndrome can aid in early diagnosis and management of affected children.

Related Concept Videos

Pedigree Analysis02:21

Pedigree Analysis

A pedigree is a diagram displaying a family’s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or recessive, (2) the type of chromosome, autosomal or sex, a trait is linked to, (3) genotypes of family members, and (4) probabilities of phenotypes in future generations. For families with a history of autosomal or sex-linked diseases, this information can be crucial to family planning.Pedigrees Display Family HistoriesIn various plant and animal species,...
Sex-linked Disorders02:28

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...
Pleiotropy01:47

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes: