In our case report, the patient seems to belong to the symptomatic group because he presents with a development arrest since the beginning of the presentation despite an unknown etiology. [cureus.com]

Our patient does not present with trigonocephaly but presents with other facial dysmorphisms considered characteristic for the 9p deletion phenotype, such as a flat nasal bridge and long philtrum. [ncbi.nlm.nih.gov]

Since the present study assessed cardiac function earlier and more frequently than these reports, we assumed that the myocardial changes occurred earlier. [frontiersin.org]

He is unable to communicate verbally; he presents difficulties in understanding and concentrating; and presents signs of restlessness and very poor motor skills. [scielo.br]

Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. [pubmed.ncbi.nlm.nih.gov]

• Broad Nasal Bridge

  In partial trisomy 8p, the clinical picture of the patients comprises hypotonia, structural brain abnormalities, facial anomalies that include a large mouth with a thin upper lip, a highly arched palate, a broad nasal bridge, an abnormal maxilla or mandible [ncbi.nlm.nih.gov]

• Spastic Quadriplegia

  The objective of this study was to obtain updated data on West Syndrome literature and report a clinical case of a patient with the medical diagnosis of this syndrome, with gastrostomy feed tube, and clinical pattern of spastic quadriplegia. [scielo.br]

(See Workup.) The eponym West syndrome was created in the early 1960s by Drs. Gastaut, Poirier, and Pampiglione. [emedicine.medscape.com]

• Hypsarrhythmia

  The typical hypsarrhythmia is usually seen in the early stage of West syndrome The EEG gradually evolves to a more synchronized, with increased hemispheric synchronization en symmetry. [eegpedia.org]

  It presents with a triad of spasms, arrest of psychomotor development and the EEG pattern known as hypsarrhythmia [1,3]. [cureus.com]

  The primary goal of treatment for West syndrome is to eliminate the seizures and resolve the hypsarrhythmia pattern on EEG, if present. [chop.edu]

  Extract: "Hypsarrhythmia severity score improved significantly with both hormonal therapies, but this improvement was significantly better with oral prednisolone than intramuscular adrenocorticotrophin hormone" [icnapedia.org]

  Being female, late onset, and early control of the hypsarrhythmia, were factors of a good prognosis. Conclusions The overall prognosis of cryptogenic WS was more serious than expected. [analesdepediatria.org]

On the other hand, treatment with ACTH produced moderate adverse effects that required treatment in 36% of cases. [analesdepediatria.org]

A new guideline evaluates the treatment of infantile spasms A new guideline developed by the American Academy of Neurology and the Child Neurology Society evaluates the treatment of infantile spasms. [news-medical.net]

It is felt that a shorter time between diagnosis and treatment will have a less deleterious effect on development compared to a longer lead-time to treatment. [rarediseases.org]

The primary goal of treatment for West syndrome is to eliminate the seizures and resolve the hypsarrhythmia pattern on EEG, if present. [chop.edu]

Treatment With early treatment the seizures can be controlled. Treatment can also help the child to develop normally or more normally than they would have without treatment. Steroids and anti-seizure medication are the most common treatments. [cedars-sinai.org]

The long-term prognosis is related to the etiological cause. [cureus.com]

[…] with mosaic trisomy 13 and discuss the clinical characteristics and prognosis of this association. [paediatricaindonesiana.org]

The prognosis of cryptogenic WS continues to be bleak. [analesdepediatria.org]

West syndrome occurs commonly in children with tuberous sclerosis complex and is associated with a grave prognosis for cognitive and seizure outcomes. We sought to determine the epilepsy ... [keyopinionleaders.com]

Initial polytherapy effectively improves prognosis of infantile spasms Adrenocorticotropic hormone is recommended worldwide as an initial therapy for infantile spasms. [news-medical.net]

The mean annual mortality rate was 3.7 per 1,000 for 4 patients with cryptogenic etiology and 17.6 per 1,000 for those with symptomatic etiology. The hazard of death was fivefold in patients with symptomatic etiology versus cryptogenic etiology. [utupub.fi]

Genetic counseling Counseling is important for subsequent pregnancies when a genetic etiology is identified. The pattern of inheritance depends on the etiology. [orpha.net]

Response to standard therapy and nonstructural etiology were associated with better seizure control at 2 y. [link.springer.com]

The long-term prognosis is related to the etiological cause. [cureus.com]

Abstract West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. [ncbi.nlm.nih.gov]

Masson. [2] Trevathan, E., Murphy, C.C. and Yeargin-Allsopp, M. (1999) The descriptive epidemiology of infantile spasms among Atlanta children. [scirp.org]

• Little work has been carried out on the epidemiology of the two serious skin reactions—toxic epidermal necrolysis (TEN) and Stevens-Johnson syndrome (SJS). [jamanetwork.com]

Summary Epidemiology The estimated birth prevalence is between 1/1,650-20,000. Both sexes are affected, with a higher incidence in males. Clinical description Epileptic spasms are the typical type of seizures observed. [orpha.net]

Zurück zum Zitat Trevathan E, Murphy CC, Yeargin-Allsopp M (1999) The descriptive epidemiology of infantile spasms among Atlanta children. [springermedizin.de]

[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 is unknown; however, infantile spasms may reflect abnormal interactions between the cortex and brain stem. [msdmanuals.com]

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]

Diabetes and obesity increase the risk of adipose tissue insulin resistance, which plays important role in the pathophysiology of the MetS [30]. [hindawi.com]

Infantile spasms are further subdivided into Symptomatic (associated with an underlying structural lesion such as tuberous sclerosis) Cryptogenic/Idiopathic The underlying pathophysiology is not known. [litfl.com]

Measures should be directed to prevent pneumonia, the most common overall cause, and SUDEP, the most frequent seizure-related cause, of death. [utupub.fi]

This will keep your eyes healthy, more comfortable, and prevent your vision from being affected. [eyecarecenterwest.com]

Parents were made aware of the importance of preventive treatment. [scielo.br]

In resource-constrained settings like India, preventable and modifiable risk factors like perinatal asphyxia, and lack of awareness of physicians and caregivers leading to delay in treatment should be minimized. [link.springer.com]

In these patients, a brain magnetic resonance imaging should be performed to establish an accurate diagnosis, determine the severity of cerebral involvement and prevent unnecessary treatment procedures. [ejrnm.springeropen.com]