Related Experiment Video
Updated: Jun 27, 2026
09:58
Lipidomics and Transcriptomics in Neurological Diseases
Published on: March 18, 2022
[Congenital generalized lipodystrophy: a case report with neurological involvement]
H Ben Turkia1, N Tebib, H Azzouz
1Service de pédiatrie, hôpital La-Rabta, Jebbari, Tunis, Tunisie. hadhami.baili@laposte.net
Summary
Congenital generalized lipodystrophy (CGL) is a rare genetic disorder. A novel AGPAT2 gene mutation caused CGL type 1 in a child, presenting with unique neurological findings.
Area of Science:
- Genetics
- Endocrinology
- Neurology
Background:
- Congenital generalized lipodystrophy (CGL) is a rare inherited disorder.
- Characterized by near-complete absence of adipose tissue from birth.
- CGL types 1 and 2 are linked to mutations in AGPAT2 and Seipin genes, respectively, causing insulin resistance.
Observation:
- A novel homozygote mutation in the AGPAT2 gene identified in a Libyan child with CGL type 1.
- Clinical features included pseudoathletic muscular hypertrophy, hypertrophic cardiomyopathy, enlarged liver, hypermetabolism, and hyperinsulinemia.
- Peripheral hypertonia and reflex excitability were observed.
Findings:
- The novel AGPAT2 mutation is associated with CGL type 1.
- The patient exhibited a complex phenotype including metabolic and cardiovascular abnormalities.
- Unprecedented white matter signal abnormalities on MRI were noted in conjunction with neurological symptoms.
Implications:
- This case expands the known spectrum of AGPAT2 mutations in CGL.
- Highlights the potential for neurological manifestations in CGL.
- Suggests a possible link between AGPAT2 mutations and white matter abnormalities, warranting further investigation.
Related Concept Videos
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
01:19Multiple Sclerosis l: Introduction
Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...