Megalencephalic leukoencephalopathy with subcortical cysts
K Hari Krishnan1, C Leema Pauline, G Kumaresan
1Department of Pediatrics, Institute of Child Health and Hospital for Children, Chennai, India.
Indian Pediatrics
|February 8, 2005
Abstract:
Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease first described in 1995. It is characterized by macrocephaly and early onset white matter degeneration. We report two siblings who were diagnosed to have this disease. This disease must be included in differential diagnosis of macrocephaly with early onset leukoencephalopathy.
Insights
Megalencephalic leukoencephalopathy with subcortical cysts is a rare neurological disorder. Early diagnosis is crucial for managing macrocephaly and white matter degeneration in affected individuals.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder.
- Characterized by macrocephaly (enlarged head) and early-onset white matter degeneration.
- First described in 1995, MLC presents unique diagnostic challenges.
Observation:
- This report details two siblings diagnosed with Megalencephalic leukoencephalopathy with subcortical cysts.
- Clinical presentation included macrocephaly and progressive white matter abnormalities.
- Diagnostic imaging revealed characteristic subcortical cysts.
Findings:
- Confirmed diagnosis of Megalencephalic leukoencephalopathy with subcortical cysts in both siblings.
- Demonstrated the genetic inheritance pattern within the family.
- Highlighted the key MRI findings associated with the disease.
Implications:
- Emphasizes the importance of considering MLC in the differential diagnosis of macrocephaly.
- Suggests early neuroimaging is vital for prompt identification of white matter changes.
- Contributes to a better understanding of this rare leukoencephalopathy for future research and clinical practice.
Related Concept Videos
01:19Encephalitis l: Introduction
Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
01:26Brain Abscess l: Introduction
A brain abscess is a focal, intracerebral infection characterized by a localized collection of pus within the brain parenchyma, resulting from microbial invasion and the body’s inflammatory response. It progresses through stages: early and late cerebritis, followed by early and late capsule formation, reflecting tissue destruction, immune response, and eventual encapsulation.Etiology and PathogenesisCausative organisms vary with source and host factors, often involving polymicrobial infections,...
01:22Cerebral Edema ll: Pathophysiology
Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this barrier loses...
01:26Encephalitis ll: Pathophysiology
Encephalitis is inflammation of the brain parenchyma caused by direct viral invasion or immune-mediated mechanisms triggered by infections or tumors. Both processes lead to neuronal injury, disrupted neurotransmission, and diverse neurological symptoms, often with overlapping clinical and pathological features.Autoimmune EncephalitisIn autoimmune encephalitis, antibodies target neuronal antigens on cell surfaces, synapses, or within neurons. A key example is anti-NMDAR encephalitis, which can...
01:19Cerebral Edema l: Introduction
Cerebral edema is a pathological increase in brain water content that disrupts intracranial pressure regulation and impairs neurological function. Because the cranial vault is rigid, even modest increases in tissue volume can compromise cerebral perfusion, distort neural structures, and initiate secondary injury. Cerebral edema develops through four principal mechanisms: vasogenic, cytotoxic, interstitial, and ionic.Vasogenic EdemaVasogenic edema arises from disruption of the blood–brain...
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,...