Lissencephaly with cerebellar hypoplasia
Última actualización 18 Aug 2020
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Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem).
Descripción
Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the part of the brain that coordinates movement is unusually small and underdeveloped (cerebellar hypoplasia). Other parts of the brain are also often underdeveloped in LCH, including the hippocampus, which plays a role in learning and memory, and the part of the brain that is connected to the spinal cord (the brainstem).
Individuals with LCH have moderate to severe intellectual disability and delayed development. They have few or no communication skills, extremely poor muscle tone (hypotonia), problems with coordination and balance (ataxia), and difficulty sitting or standing without support. Most affected children experience recurrent seizures (epilepsy) that begin within the first months of life. Some affected individuals have nearsightedness (myopia), involuntary eye movements (nystagmus), or puffiness or swelling caused by a buildup of fluids in the body's tissues (lymphedema).
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
LCH
LIS2
LIS3
Lissencephaly 2
Lissencephaly 3
Lissencephaly syndrome, Norman-Roberts type
Norman-Roberts syndrome
Related patient information and medicines
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Vivir con una condición a largo plazo
A long-term condition cannot be cured but its symptoms and complications may be controlled with treatment. Examples are arthritis, asthma, diabetes, epilepsy and high blood pressure. Long-term conditions can have an effect on your role within the family, your job, where you live, your education and your finances. However, there are many sources of.
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Cómo manejar lesiones oculares
This leaflet is created from first aid advice provided by St John Ambulance, the nation's leading first aid charity. This advice is no substitute for first aid training - find a training course near you. Eye injuries vary from something very minor, such as getting shampoo in your eye, to something quite serious, such as a cut, which could cause.
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Viviendo con epilepsia
This leaflet is a brief introduction to the practical considerations of living with epilepsy. For more general information about epilepsy and seizures, see the separate leaflets called Epilepsy and Seizures and Types of Epilepsy and Seizures. Medication It is important that you take your medication regularly to reduce the risk of having seizures..
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¿Puedo tomar antihistamínicos con alcohol?
... These juices can significantly reduce the amount of medicine your body absorbs, making the treatment less effective. It is best to take fexofenadine with water. More about Fexofenadine (Allegra) Using other medicines Taking multiple medicines. Our Verificador de Interacciones de Medicamentos helps you check whether your prescriptions, over-the-counter.
Lecturas adicionales y referencias
- Lissencephaly with cerebellar hypoplasia; MedlinePlus, National Library of Medicine.
- Chang BS, Duzcan F, Kim S, Cinbis M, Aggarwal A, Apse KA, Ozdel O, Atmaca M, Zencir S, Bagci H, Walsh CA. The role of RELN in lissencephaly and neuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. doi: 10.1002/ajmg.b.30392.
- Gressens P. Pathogenesis of migration disorders. Curr Opin Neurol. 2006 Apr;19(2):135-40. doi: 10.1097/01.wco.0000218228.73678.e1.
- Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246.
- Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GM, Rees MI, Harvey RJ, Dobyns WB. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet. 2010 Jul 15;19(14):2817-27. doi: 10.1093/hmg/ddq182. Epub 2010 May 12.
- Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics. 2001 Oct;32(5):256-63. doi: 10.1055/s-2001-19120.
- Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May 1;143A(9):939-44. doi: 10.1002/ajmg.a.31667.
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