Neurology

Neurology

Seizures are common in the CdLS spectrum (²,³,³¹,¹²³1). A seizure is caused by an abnormal discharge of electrical activity in the brain. The most common type of seizure in CdLS is partial epilepsy. Partial epilepsy is where a seizure occurs in just one area of the brain. It usually develops before 2 years of age in individuals with CdLS (¹²⁴,¹²³). Individuals typically respond well to standard epilepsy therapy, such as sodium valproate medication (¹²⁴) (R47). Very rarely, anoxic epileptic seizures can also occur in CdLS, which is the result of insufficient blood flow to the brain (¹²⁵).

The autonomic nervous system is responsible for controlling bodily functions without a person needing to think about them, for example, breathing, heartbeat and digestion. Most individuals with CdLS have mild abnormalities in their autonomic nervous system and approximately 25% of individuals with CdLS will have marked abnormalities (²). Dystonia (uncontrolled muscle movements) and catatonia (apparent unresponsiveness and inability to move) are rare in CdLS (¹²⁶,¹²⁷).

There is some evidence that individuals with CdLS have sensory deficits and temperature insensibility. This means that the part of the nervous system associated with pain and sensation might not be sending the right signals to the brain. For example, in an individual with temperature insensibility, the nervous system may not send signals to the brain to indicate that boiling water is too hot for the skin. Such sensory deficits could be linked to self-injurious behaviour in CdLS (³).
Some individuals with CdLS may have structural changes in the brain. Brain abnormalities are especially likely in individuals with CdLS caused by a change to the NIPBL gene (¹²⁸,¹²⁹). Structural brain abnormalities can affect the cerebellum (the area of the brain controlling movement and coordination), the brainstem (which helps to control breathing, blood pressure and temperature), and how parts of the brain are linked together (¹³⁰). Brain abnormalities are not associated with behaviour in CdLS (¹³¹). Spinal cord abnormalities are rare in CdLS (¹²⁹,¹³²). MRI (a scan) of the brain should only be done if there are neurologic abnormalities seen in the individual with CdLS (R48). Tethered spinal cord has been reported in CdLS and an MRI of the spinal cord could detect this if this was suspected.

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 jul 2018

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Modificado por Gerritjan Koekkoek em 2022/09/29 16:10

Criado por Gerritjan Koekkoek em 2019/03/27 15:09