Infantile Spasms: Causes & Reasons

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Possible Causes for Infantile Spasms

Tuberous Sclerosis

We found that poor intellectual outcome is related to early onset of seizures, infantile spasms, severely epileptogenic EEG findings and tuber burden on the Left side. [ncbi.nlm.nih.gov]

[…] of infantile spasms in patients with or without tuberous sclerosis how it treats infantile spasm in not fully understood vigabatrin may be effective in the treatment of infantile [medbullets.com]

Infantile spasms were reported in 45.2% of individuals and focal seizures were reported in 84.4% of individuals. [ncbi.nlm.nih.gov]

Aicardi's Syndrome

Infantile spasms are present in the majority of patients. Most of the girls develop seizures before one year. [symptoma.com]

In Aicardi syndrome, it is associated with retinal lacunae and infantile spasms. [content.iospress.com]

The absence of the corpus callosum and retinal abnormalities cannot be fixed, though infantile spasms can certainly be treated. [infantilespasmsproject.org]

Familial Infantile Myoclonic Epilepsy

Results: All six affected boys had myoclonic seizures and TCS; two had infantile spasms, but only one had hypsarrhythmia. [neurology.org]

Infantile spasms usually stop by age five, but may be replaced by other seizure types. [childneurologyfoundation.org]

spasm, IS, X-linked infantile spasm syndrome, X-linked infantile spasms, West's syndrome, Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia [rarediseases.info.nih.gov]

Benign Familial Infantile Epilepsy Type 4

Infantile spasms usually stop by age five, but may be replaced by other seizure types. [childneurologyfoundation.org]

[…] epileptic encephalopathy 25864721,26933583 GRIN2A Epilepsy aphasia syndromes 23933818,23933819,23933820 GRIN2B Epileptic encephalopathy, infantile spasms, autism 24272827 [tests.labmed.washington.edu]

Infantile spasms See separate West's Syndrome (Infantile Spasms) article. [patient.info]

West Syndrome

[…] have a history of infantile spasms. [web.archive.org]

Epileptic spasms infantile spasms juvenile spasms Generalized flexion epilepsy Infantile epileptic encephalopathy Infantile myoclonic encephalopathy jackknife convulsions [wikidata.org]

[…] rate for infantile spasm ranges from 5-31%. [emedicine.com]

Developmental and Epileptic Encephalopathy Type 2

Spasms; X-linked dominant infantile spasm syndrome-2 primary_id: MESH:C564064 alt_id: OMIM:300672 ; RDO:0013150 For additional species annotation, visit the Alliance of Genome [rgd.mcw.edu]

Mutations in the human X linked cyclin–dipendent kinase like 5 (CDKL5), infantile spasms and Rett (RTT) like phenotype. Initially normal EEG and severe hypotonia. [ijponline.biomedcentral.com]

Acronym EIEE2 Synonyms Atypical Rett syndrome CDKL5-related Atypical Rett syndrome Hanefeld variant Infantile spasm syndrome X-linked 2 ISSX2 Rett syndrome early-onset seizure [uniprot.org]

Myoclonic-Astatic Epilepsy

Furthermore, the underlying mechanism in the brainstem seems to be common, at least in part, for infantile spasms when considering the efficacy of synthetic adrenocorticotropic [ncbi.nlm.nih.gov]

Infantile Spasms (West Syndrome) Infantile spasms typically begin between 3 and 12 months of age and usually stop by the age of 2 to 4 years. [hopkinsmedicine.org]

Treatment for infantile spasms usually includes steroid therapy, certain anticonvulsant medications or a ketogenic diet. [hopkinsmedicine.org]

Developmental and Epileptic Encephalopathy Type 17

spasms. [ncbi.nlm.nih.gov]

A male infant presented at age 5 months with a dyskinetic movement disorder, which was initially diagnosed as infantile spasms. [ncbi.nlm.nih.gov]

Neuropathology aspects of infantile spasms. Brain Dev 1987, 9:349-357. [ Links ] 9. Lombroso CT. [scielo.br]

Pyridoxine Dependency Syndrome

What are Infantile Spasms? [medicalfoster.com]

The prognosis for idiopathic infantile spasms tends to be better than for symptomatic infantile spasms [ 10 ]. [patient.info]

It is also a major symptomatic cause of infantile spasms; up to 50% of patients with TSC eventually present with infantile spasms at 4 - 6 months of age. [news-medical.net]

Developmental and Epileptic Encephalopathy Type 6

spasms, myoclonic, tonic or absence seizures, at least one afebrile seizure, normal development prior to the first seizure, normal CT scan, and no etiology. [ncbi.nlm.nih.gov]

Clinical Information Any form of epilepsy accompanied by myoclonus, shock like contractions of the muscle 345.1 Excludes convulsions: infantile spasms ( 345.6 ) Applies To [icd9data.com]

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet. 2008;83:106–111. [journals.sagepub.com]

Optic Atrophy-Intellectual Disability Syndrome

From infantile spasms to possible lissencephaly (smoothing of the brain), they searched for answers and were eventually led to the NR2F1 gene mutation which explained many [podcasts.apple.com]

Progressive Myoclonic Epilepsy Type 7

[…] myoclonic epilepsy, early infantile epileptic encephalopathy 16 605021, 615338 TCF4 Pitt-Hopkins syndrome 610954 TSC1 Tuberous sclerosis -1/infantile spasms 191100 TSC2 Tuberous [impactgenetics.com]

After several months, and always within the first year of life, the seizures may change to infantile spasms and the EEG shows a pattern called hypsarrhythmia. [epilepsy.org.uk]

Focal Motor Seizure

Infantile spasms are characterized by a particular posturing of the infant's body, in which the child assumes a jack-knife, or folded, position. [healthcommunities.com]

spasms have clusters of myoclonic jerks that tend to occur when they awaken Atonic Seizures or Drop Attacks brief seizures, short duration cause an unexpected and rapid fall [barrowneuro.org]

See epilepsy. jackknife s's infantile spasms. myoclonic seizure one characterized by a brief episode of myoclonus. partial seizure any seizure due to a lesion in a specific [medical-dictionary.thefreedictionary.com]

Epidermal Nevus

The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. [ncbi.nlm.nih.gov]

Epilepsy is the most frequent neurological symptom, in particular infantile spasms, with or without HME. [ncbi.nlm.nih.gov]

A 5-month-old girl presented with infantile spasms and psychomotor retardation. [ncbi.nlm.nih.gov]

Lissencephaly

We describe a male infant presenting with facial dysmorphisms resembling those of Miller-Dieker syndrome, neuromotor delay, and drug - resistant infantile spasms. [ncbi.nlm.nih.gov]

She developed infantile spasms and had severe developmental delay. There was no apparent deletion of 17p13.3 on fluorescence in situ hybridization (FISH) analysis. [ncbi.nlm.nih.gov]

spasms) and severe psychomotor retardation. [orpha.net]

Postictal State

Treatment: ACTH + Prednisone + anticonvulsants if no response Idiopathic infantile spasms “West syndrome”: a severe epilepsy syndrome composed of the triad: infantile spasms [armandoh.org]

[…] outcome.", keywords = "Child, Electroencephalography, Hypsarrhythmia, Infantile spasms, Neurologic manifestations, West syndrome", author = "L. [moh-it.pure.elsevier.com]

Infantile spasms Infantile spasms are a rare type of seizure disorder that occurs in the first year of life. [childrenshospital.org]

Severe Neonatal-Onset Encephalopathy with Microcephaly

Polyalanine expansions within ARX can cause Infantile Spasms. ARX was considered one of the major candidates for Infantile Spasms. [epilepsygenetics.net]

Spasm Syndrome, X-Linked 2 Rett Syndrome, Atypical, Cdkl5-Related Rett Syndrome, Variant, With Infantile Spasms EIEE2 ISSX2 300672 Genetic Test Registry Epileptic Encephalopathy [ukgtn.nhs.uk]

Acquired Hypertrophic Pyloric Stenosis

[…] constriction Congenital or infantile hypertrophy Congenital or infantile spasm Congenital or infantile stenosis Congenital or infantile stricture Q40.0 ) The following code [icd10data.com]

Applicable To Congenital or infantile constriction Congenital or infantile hypertrophy Congenital or infantile spasm Congenital or infantile stenosis Congenital or infantile [icd10data.com]

[…] or infantile hypertrophy Congenital or infantile spasm Congenital or infantile stenosis Congenital or infantile stricture Q40.1 Congenital hiatus hernia Inclusion term(s) [icd10coded.com]

Infantile Choroidocerebral Calcification Syndrome

X-linked Aicardi syndrome: The tumor is also seen in Aicardi syndrome (infantile spasms, agenesis of the corpus callosum, lacunar chorioretinopathy, and X-linked dominant [ispn.guide]

The seizures may become generalised and evolve into other types, such as drop attacks, myoclonic or infantile spasms. [patient.info]

spasms and anophthalmia. [ultrasound-images.com]

Aprosencephaly and Cerebellar Dysgenesis

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. [connection.ebscohost.com]

Spasms X-Linked Mental Deficiency-Megalotestes Syndrome X-Linked Mental Retardation (Mrx25, Xlmr25) X-Linked Mental Retardation 1 (Mrx1, Xlmr1) X-Linked Mental Retardation [neo-genetics.com]

Infantile spasms Chorioretinal lacunae Also seen: Dorsal vertebral anomalies Optic nerve colobomas Microphthalmos Mental retardation Agenesis of the Septum Pellucidum Found [sites.google.com]

Developmental and Epileptic Encephalopathy Type 3

SPASMS Medical condition: Infantile spasms (IS) Disease: Version SOC Term Classification Code Term Level 20.1 10029205 - Nervous system disorders 10021750 Infantile spasms [clinicaltrialsregister.eu]

Mutations in the human X linked cyclin–dipendent kinase like 5 (CDKL5), infantile spasms and Rett (RTT) like phenotype. Initially normal EEG and severe hypotonia. [ijponline.biomedcentral.com]

After several months, the seizure pattern may develop to infantile spasms (West syndrome). Various genetic and metabolic disorders are responsible. [en.wikipedia.org]

Lennox-Gastaut Syndrome

Although some children with infantile spasms whose treatment is unsuccessful will eventually carry a diagnosis of LGS, most children with LGS never had infantile spasms in [infantilespasmsproject.org]

Approximately 17-30% of individuals with LGS have had a prior history of infantile spasms. [dovemed.com]

Betty Koo, Vigabatrin in the treatment of infantile spasms, Pediatric Neurology, 20, 2, (106), (1999). E. [doi.org]

Congenital Pyloric Stenosis

Congenital or infantile constriction Congenital or infantile hypertrophy Congenital or infantile spasm Congenital or infantile stenosis Congenital or infantile stricture MS-DRG [icd.codes]

Applicable To Congenital or infantile constriction Congenital or infantile hypertrophy Congenital or infantile spasm Congenital or infantile stenosis Congenital or infantile [icd10data.com]

Jacksonian Seizure

Spasms Infantile spasms are a type of epilepsy seizure but they do not fit into the category of focal or generalized seizures. [epilepsyontario.org]

Infantile spasms (West Syndrome). Lasting just a few seconds, bending of limbs, neck, and torso while lying down may occur often during a single day. [webmd.com]

[…] grand mal) atonic seizures (also known as drop attacks) clonic seizures tonic seizures myoclonic seizures Additional Seizure TypesExpand Additional Seizure Types Section Infantile [epilepsyontario.org]

Joint Dislocation

What's the outlook for children with Infantile Spasms? Most children with infantile spasms have intellectual disabilities later in life. [epilepsy.com]

[…] rate for infantile spasm ranges from 5-31%. [emedicine.medscape.com]

Synonyms of West Syndrome epileptic spasms infantile spasms Subdivisions of West Syndrome x linked infantile spasms General Discussion West syndrome is a constellation of [rarediseases.org]

Focal Epilepsy - Speech Disorder - Mental Retardation

(spasms or epileptic spasms) and the epilepsy syndrome of infantile spasms (West syndrome). [pediatrics.emory.edu]

Infantile spasm noted in second 7 with an electrodecremental response obtained in a 3-yr-old child with TS. 14. [slideshare.net]

spasms. [emedicine.medscape.com]

2-Methylbutyryl-CoA Dehydrogenase Deficiency

From this age he started to have seizure-like movements, which according to the mother's description, could have been myoclonic epilepsy or infantile spasms. [doi.org]

Infantile spasms also occurred in the SBCADD patient reported by Madsen [5] and epilepsy was reported in the patient described by Gibson [2], although the seizures were described [jmedicalcasereports.biomedcentral.com]

Keywords Autism Spectrum Disorder Infantile Spasm Angelman Syndrome Dehydrogenase Deficiency Moderate Mental Retardation Background 2-methylbutyryl-CoA dehydrogenase deficiency [doi.org]

Polymicrogyria

At 6 months of age the patient developed infantile spasms that were resistant to antiepileptic polytherapy. [ncbi.nlm.nih.gov]

We report on a male patient born with cleft lip and palate who presented with infantile spasms and hemiplegia. [ncbi.nlm.nih.gov]

Associated conditions include arthrogryposis multiplex / infantile spasms etc. [sumerdoc.blogspot.com]

Lenegre Disease

Infantile spasms. Juvenile myoclonic epilepsy. [patient.info]

Infantile spasms and Lennox-Gastaut syndrome. J Child Neurol. 2002 Feb;17 Suppl 2:2S9-2S22. Review. Erratum in: J Child Neurol. 2003 May;18(5):374. [ghr.nlm.nih.gov]

It is estimated that between 20 and 60 percent of children with this syndrome have a prior history of infantile spasms. [chp.edu]

Miller-Dieker Syndrome

Here, we report a new case of MDS associated with refractory atypical infantile spasms and severe mental retardation in a 3-year-old Tunisian boy. [content.iospress.com]

She developed infantile spasms at an early age, and her seizures were poorly controlled by multiple antiepileptics. [ncbi.nlm.nih.gov]

Epilepsy is present, often as infantile spasms, in almost cases. Feeding and swallowing problems are common, and can be complicated by aspiration pneumonia. [neuroscienceandgenetics.it]