Presentation
D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour. [malattierare.regione.veneto.it]
Musculoskeletal
- Fracture
98.37 4 of 4 ALG14 Congenital Myasthenic Syndrome AR 99.99 7 of 7 ALG2 Congenital Disorder Of Glycosylation Type II AR 99.61 7 of 7 ALG3 Congenital Disorder Of Glycosylation Type Id AR 99.2 25 of 25 ASCC1 Spinal Muscular Atrophy With Congenital Bone Fractures [igenomix.es]
Workup
EEG
- Hypsarrhythmia
The origin of hypsarrhythmia and tonic spasms in West syndrome: evidence from a case of porencephaly and hydrocephalus with focal hypsarrhythmia. Brain Dev. 1999;21(2):129-31.Bruyere H, Lewis S, Wood S, MacLeod PJ, Langlois S. [malattierare.regione.veneto.it]
Treatment
Surgical treatment of West syndrome. Brain Dev. 2001;23(7):668-76.Takeuchi Y, Takano T, Abe J, Takikita S, Ohno M. Thyrotropin-releasing hormone: role in the treatment of West syndrome and related epileptic encephalopathies. [malattierare.regione.veneto.it]
Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7 Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). [igenomix.es]
Prognosis
Long-term prognosis of patients with West syndrome in Japan: medical aspects. Brain Dev. 2001;23(7):692-4.Appleton RE. West syndrome: long-term prognosis and social aspects. Brain Dev. 2001;23(7):688-91.Riikonen R. [malattierare.regione.veneto.it]
Etiology
[Etiology of epilepsy in adolescents]. Rev Neurol. 1999 Jan 1-15;28(1):32-5.Iinuma K. [General principles of treatment and effects of childhood intractable epilepsy]. Rinsho Shinkeigaku. 1999;39(1):75-6.Manonmani V, Tan CT. [malattierare.regione.veneto.it]
Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]
Epidemiology
[Epidemiological and clinical study of West syndrome in Nagasaki Prefecture, Japan]. No To Hattatsu. 2001;33(1):15-20.Ormrod D, McClellan K. Topiramate: a review of its use in childhood epilepsy. [malattierare.regione.veneto.it]
Pathophysiology
Polysomnographical assessment of the pathophysiology of West syndrome. Brain Dev. 2001;23(7):523-7.Hayashi M. Neuropathology of the limbic system and brainstem in West syndrome. [malattierare.regione.veneto.it]
Prevention
Clinico-electrical evolution in pre-hypsarrhythmic stage: towards prediction and prevention of West syndrome. Brain Dev. 2001;23(7):482-7.Ohtsuka Y, Kobayashi K, Ogino T, Oka E. Spasms in clusters in epilepsies other than typical West syndrome. [malattierare.regione.veneto.it]