Hypsarrhythmia: Causes & Reasons

Possible Causes for Hypsarrhythmia

Developmental and Epileptic Encephalopathy Type 2

Characteristic age-dependent evolution from OS to West syndrome (WS) in many cases, and further from WS to Lennox-Gastaut syndrome (LGS) in some, proceed concomitantly with [ncbi.nlm.nih.gov]

The seizures evolved to brief tonic spasms, and hypsarrhythmia on EEG was noticed at age of 5 months, indicating the transition to West syndrome. [ncbi.nlm.nih.gov]

West syndrome (Epileptic spasms).  Triad of infantile spasms, arrest of psychomotor development, and hypsarrhythmia.  Onset peaks between the ages of 4 and 7 months.  Clusters [slideshare.net]

Developmental and Epileptic Encephalopathy Type 17

Over her lifetime, neither hypsarrhythmia nor diffuse slow spike-wave pattern were seen. [ncbi.nlm.nih.gov]

Characteristic age-dependent evolution from OS to West syndrome (WS) in many cases, and further from WS to Lennox-Gastaut syndrome (LGS) in some, proceed concomitantly with [ncbi.nlm.nih.gov]

METHODS: We recruited a total of 328 patients with EOEE, including 67 patients with Ohtahara syndrome (OS) and 150 with West syndrome. [ncbi.nlm.nih.gov]

Kohlschütter-Tönz Syndrome

Hypsarrhythmia phenotype Nervous System Diseases Finding 50 0.100 0 CUI: C0553721 Disease: Diminished sweating Diminished sweating phenotype Finding 44 0.100 0 CUI: C0007758 [disgenet.org]

The signs and symptoms of Kohlschütter-Tönz Syndrome may include: Ataxia Cerebellar hypoplasia Cerebral atrophy Epileptic encephalopathy Hypoplasia of dental enamel Hypsarrhythmia [dovemed.com]

[…] cerebellum [ more ] 0001321 Cerebral atrophy Degeneration of cerebrum 0002059 Epileptic encephalopathy 0200134 Hypoplasia of dental enamel Underdeveloped teeth enamel 0006297 Hypsarrhythmia [rarediseases.info.nih.gov]

Congenital Disorder of Glycosylation Type 1I

Clinical manifestation of West syndrome is: ESp, hypsarrhythmia on EEG and developmental cessation (two out of three criteria are necessary for diagnosis). [mdpi.com]

[…] recessive inheritance 0000007 Coloboma Notched pupil 0000589 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 Hyperreflexia Increased reflexes 0001347 Hypsarrhythmia [rarediseases.info.nih.gov]

West syndrome caused by ST3Gal-III deficiency. Epilepsia 2013, 54, e24–e27. [mdpi.com]

Tuberous Sclerosis

BACKGROUND: In Japan, adrenocorticotropic hormone (ACTH) therapy has been the mainstay of treatment of West syndrome. [ncbi.nlm.nih.gov]

Hypsarrhythmia is seen on EEG. [medbullets.com]

They can begin in very early childhood as infantile spasms, sometimes with hypsarrhythmia. [autism-help.org]

Developmental and Epileptic Encephalopathy Type 23

The origin of hypsarrhythmia and tonic spasms in West syndrome: evidence from a case of porencephaly and hydrocephalus with focal hypsarrhythmia. [malattierare.regione.veneto.it]

[A case with congenital hydrocephaly and west syndrome who recovered from hypsarrhythmia after the resolution of shunt trouble]. [malattierare.regione.veneto.it]

Epileptic spasms in clusters without hypsarrhythmia in infancy. [malattierare.regione.veneto.it]

Developmental and Epileptic Encephalopathy Type 1

Around 75% of EIEE patients will continue to develop another age-dependent encephalopathy called West syndrome. [news-medical.net]

EIEE and West syndrome have common characteristics including tonic spasms, severe and continuous epileptic activity and severe mental delay. [news-medical.net]

West syndrome typically occurs after three months of life. Treatment There is currently no cure for EIEE. Patients with EIEE require constant supervision. [news-medical.net]

Developmental and Epileptic Encephalopathy Type 4

Novel West syndrome candidate genes in a Chinese cohort. CNS Neurosci Ther 2018;24:1196–206. [6]. Abekhoukh S, Bardoni B. [journals.lww.com]

Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia ), hypsarrhythmia (an irregular pattern seen on EEG ), dyskinesia (involuntary [rarediseases.info.nih.gov]

Infantile Spasms (West Syndrome) West syndrome usually occurs in the first year of life and consists of the triad of infantile spasms, developmental deterioration, and a hypsarrhythmia [hindawi.com]

Developmental and Epileptic Encephalopathy Type 26

EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. [uniprot.org]

EEG demonstrated transition to hypsarrhythmia, suggesting West syndrome, at age 1 and 7 months, respectively. ACTH therapy was not effective in either patient. [bio2rdf.org]

Developmental and Epileptic Encephalopathy Type 12

This report presents a case involving a patient with MMPSI, who later developed West syndrome. [unboundmedicine.com]

[…] of infancy is associated with an expanded spectrum of clinical features (including severe gut dysmotility and a movement disorder) and electrographic features including hypsarrhythmia [kclpure.kcl.ac.uk]

syndromes. [academic.oup.com]

Congenital Disorder of Glycosylation Type 2M

Affected infants may have seizures (such as hypsarrhythmia), low muscle tone, global developmental delay, and a failure to gain weight and grow at the expected rate (failure [fcdgc.rarediseasesnetwork.org]

Clinical characteristics analysis of a child with West syndrome caused by SLC35A2 gene mutation in a Marfan syndrome family and literature review. J. Clin. [frontiersin.org]

MRI abnormalities (Table 1) and had neurological symptoms ranging from developmental delay and hypotonia to early onset infantile encephalopathy with severe seizures and hypsarrhythmia [bmcmedgenet.biomedcentral.com]

Congenital Disorder of Glycosylation Type 1D

[…] fingers Microcephaly Muscular hypotonia of the trunk Abnormality of the nervous system Cerebellar atrophy Cerebral atrophy Global developmental delay Hyperreflexia Hypertonia Hypsarrhythmia [ncbi.nlm.nih.gov]

[…] more ] 0001508 Food intolerance 0012537 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Hypsarrhythmia [rarediseases.info.nih.gov]

Both children were microcephalic and developed hypsarrhythmia and intractable seizures. The boy had optic atrophy and a coloboma of the iris. [omim.org]

Hyperphosphatasia with Mental Retardation Type 5

Disease description An autosomal recessive neurologic disorder characterized by developmental delay, mental retardation, tonic seizures associated with hypsarrhythmia, dysmorphic [uniprot.org]

syndrome and hyperphosphatasia with mental retardation syndrome. [link.springer.com]

syndrome, X-linked) Hydranencephaly with abnormal genitalia Lissencephaly, X-linked 2 (LISX2) (Lissencephaly, X-linked, with ambiguous genitalia (XLAG)) Mental retardation [uniklinik-freiburg.de]

Developmental and Epileptic Encephalopathy Type 5

A transition from EIEE into atypical West Syndrome (3/3), was followed, in the oldest patient of our series, by evolution into a Lennox-Gastaut-like syndrome. [research.unipd.it]

Developmental and Epileptic Encephalopathy Type 15

A transition from EIEE into atypical West Syndrome (3/3), was followed, in the oldest patient of our series, by evolution into a Lennox-Gastaut-like syndrome. [research.unipd.it]

Methylmalonic Acidemia with Homocystinuria Type cblX

[…] and broad skull 0000248 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hypsarrhythmia [rarediseases.info.nih.gov]

West Syndrome

The hypsarrhythmia EEG is from a 4-month old girl with cryptogenic West syndrome. [en.wikipedia.org]

We report on a 3-year-old girl with West syndrome and with focal hypsarrhythmia. [ncbi.nlm.nih.gov]

Hypsarrhythmia and spasms of West syndrome have been postulated by some investigators to have a brainstem origin. [ncbi.nlm.nih.gov]

Familial Infantile Myoclonic Epilepsy

West Syndrome/IS is characterized by epileptic spasms, developmental problems, and a specific brain wave pattern on electroencephalography (EEG) testing called hypsarrhythmia [childneurologyfoundation.org]

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

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

Pyridoxine Dependency Syndrome

An attempt has been made to get unified case definitions and outcome measures in studies of infantile spasms and West's syndrome [ 9 ]. [patient.info]

By Afsaneh Khetrapal BSc (Hons) West Syndrome is characterized by infantile spasms, developmental reversion, and a specific chaotic brain activity pattern called hypsarrhythmia [news-medical.net]

Developmental and Epileptic Encephalopathy Type 3

Evolve to hypsarrhythmia and then to diffuse slow spike waves Transformation Persists for long period Evolves to West syndrome and then to Lennox-Gastaut syndrome Epidemiology [wikidoc.org]

[…] a transient phase of West syndrome. [ncbi.nlm.nih.gov]

At five months, inter-ictal EEG revealed hypsarrhythmia, but his attacks were still only myoclonuses. [ncbi.nlm.nih.gov]

Focal Epilepsy - Speech Disorder - Mental Retardation

syndrome). [pediatrics.emory.edu]

The prognosis is similar to that of NME, and these patients may evolve into infantile spasms (IS; West Syndrome). 3.2.4. [euroformhealthcare.biz]

Diomedi-Bernardi-Placidi Syndrome

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

West: infantile spasms, hypsarrhythmia. Proud: microcephaly, ACC, spasticity, seizures, ataxia, genital anomalies. [pediatrics.aappublications.org]

The EEG showed a hypsarrhythmia pattern. Truncal hypotonia, spasticity, dystonia and/or myoclonus, scoliosis, and dysphagia are also features. [disorders.eyes.arizona.edu]

Nonketotic Hyperglycinemia

This is the first case with Cri du chat syndrome associated with nonketotic hyperglycinemia, infantile spasms, hypsarrhythmia, and heterotopia. [ncbi.nlm.nih.gov]

The EEG changed to hypsarrhythmia during early or mid-infancy. [indiana.pure.elsevier.com]

[…] clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia [ncbi.nlm.nih.gov]

Autosomal Recessive Primary Microcephaly Type 10

[…] atrophy Patent ductus arteriosus Thin vermilion border Epileptic spasms Cortical gyral simplification Global brain atrophy Generalized seizures Epileptic encephalopathy Hypsarrhythmia [mendelian.co]

Hypoplasia of the corpus callosum Arrhythmia Pneumonia Hypoplasia of the brainstem Apnea Tetraplegia Respiratory insufficiency Focal seizures Generalized myoclonic seizures Hypsarrhythmia [mendelian.co]

Objective : To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X [pubfacts.com]

Aicardi's Syndrome

West Syndrome: Disorder characterized by the triad of infantile spasms, interictal EEG pattern termed hypsarrhythmia, and mental retardation. [accessanesthesiology.mhmedical.com]

An electroencephalogram (EEG) may show the characteristic pattern of hypsarrhythmia - sometimes called West's syndrome. [ 8 ] MRI scan or CT scan of the head will help demonstrate [patient.info]

The combination of infantile spasms and an EEG pattern called ‘hypsarrhythmia’ is known as West syndrome. [epilepsy.org.uk]

Neonatal Diabetes Mellitus

As a new entity DEND-syndrome (developmental delay-epilepsy-neonatal diabetes) has been described, in which generalized epilepsy is most common and hypsarrhythmia has been [thieme-connect.com]

Infantile spasms with hypsarrhythmia on the electroencephalogram were severe and refractory to steroids. [ncbi.nlm.nih.gov]

[…] most severely affected patients who often cannot stand or talk in late childhood and have generalized epilepsy before the age of 1 year, which is typically associated with hypsarrhythmia [medscape.org]

Benign Familial Infantile Epilepsy Type 4

syndrome Triad: infantile spasms, hypsarrhythmia, mental retardation Hypsarrhythmia chaotic background with high amplitude asynchronous slow waves and spikes not always present [emilytam.com]

Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. [genecards.org]

Developmental and Epileptic Encephalopathy Type 72

The origin of hypsarrhythmia and tonic spasms in West syndrome: evidence from a case of porencephaly and hydrocephalus with focal hypsarrhythmia. [malattierare.regione.veneto.it]

[A case with congenital hydrocephaly and west syndrome who recovered from hypsarrhythmia after the resolution of shunt trouble]. [malattierare.regione.veneto.it]

Epileptic spasms in clusters without hypsarrhythmia in infancy. [malattierare.regione.veneto.it]

Childhood Electroclinical Syndrome

The epileptic syndromes were: epilepsy with myoclonic seizures in 13, of which seven presented a myoclonic state in their history, focal epilepsy in seven, West's syndrome [ibecs.isciii.es]

Intercritical EEG showed generalised MSW and SW paroxysms in 13, unilateral spikes in seven, hypsarrhythmia in three, generalised fast-rhythm paroxysms and slow SW activity [ibecs.isciii.es]

Cerebral Calcification - Cerebellar Hypoplasia

Interictal sleep EEG demonstrated background slowing without hypsarrhythmia. Prolonged EEG was not recorded. [frontiersin.org]

There are no reports of hypsarrhythmia in the literature, despite observations of epileptic spasms with typical ictal EEG correlation (15). [frontiersin.org]