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Myoclonic Epilepsy of Infancy

Benign Myoclonic Epilepsy of Infancy


Presentation

  • Subsequently the patient presented with constantly raised IgA in serum and positive antinuclear and thyroid antimicrosomal antibodies.[ncbi.nlm.nih.gov]
Asymptomatic
  • These findings will have major consequences for the genetic counseling of asymptomatic parents with only one affected child. (c) 2006 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]
Precocious Puberty
  • One patient had central precocious puberty and palatoschisis. Genotype-phenotype correlations suggest that these clinical features are due to genes centromeric to SCN1A.[ncbi.nlm.nih.gov]
Fecal Incontinence
  • Symptoms Symptoms may vary from the almost imperceptible alteration in consciousness, as in absence seizures, to dramatic loss of consciousness, tonic-clonic convulsions of all extremities, urinary and fecal incontinence, and amnesia for the event.[medical-dictionary.thefreedictionary.com]
Orthostatic Hypotension
  • The differential diagnosis of epilepsy includes many other illnesses marked by episodes of loss of consciousness, including pseudoseizures, syncope, transient ischemic attacks, orthostatic hypotension, and narcolepsy.[medical-dictionary.thefreedictionary.com]
Blister
  • The diagnosis of probable autoimmune lymphoproliferative syndrome was made; arthritis, skin and throat blisters, which appeared subsequently led to the diagnosis of linear IgA disease.[ncbi.nlm.nih.gov]
Arthritis
  • The diagnosis of probable autoimmune lymphoproliferative syndrome was made; arthritis, skin and throat blisters, which appeared subsequently led to the diagnosis of linear IgA disease.[ncbi.nlm.nih.gov]
Suggestibility
  • Although benign outcome is presumed, some recent studies suggest less favorable outcome. A 14-year-old boy had a history of repeated episodes of myoclonic jerks of the shoulders and upper limbs in infancy (age 5 months).[ncbi.nlm.nih.gov]
Incontinence
  • Symptoms Symptoms may vary from the almost imperceptible alteration in consciousness, as in absence seizures, to dramatic loss of consciousness, tonic-clonic convulsions of all extremities, urinary and fecal incontinence, and amnesia for the event.[medical-dictionary.thefreedictionary.com]
Uremia
  • Adults may develop epilepsy as a result of strokes, tumors, abscesses, brain trauma, encephalitis, meningitis, uremia, or other illnesses. In many instances the underlying cause is undetermined.[medical-dictionary.thefreedictionary.com]

Workup

  • DEVELOPMENT: Patients with unclear etiologies after performing a brain magnetic resonance imaging should be considered for a further workup, which should include an evaluation for genetic defects.[ncbi.nlm.nih.gov]
  • EEG is required to distinguish myoclonic seizures from nonictal causes of myoclonus, which can arise from lesions of the cortex, brainstem, spinal cord, or even peripheral nerve (see Workup).[emedicine.medscape.com]
  • Diagnostic workup In early myoclonic encephalopathy, EEG is characterized by a "burst-suppression" pattern with bursts of spikes, sharp waves, and slow waves, which are irregularly intermingled and separated by periods of electrical silence.[intechopen.com]
Hypsarrhythmia
  • Other terms currently in usage are "infantile spasms," "hypsarrhythmia" and "massive myoclonic seizures." 2. Myoclonic epilepsy of older children.[pediatrics.aappublications.org]
  • In the vast majority, this pattern is hypsarrhythmia- a very chaotic looking EEG with high amplitude brain waves. The pattern is so distinct that it is generally hard to mistake for something else.[medhelp.org]
  • Infants have epileptic (infantile) spasms, developmental regression around 4-6 months of age, and the EEG shows hypsarrhythmia pattern.[epilepsyfoundationmn.org]
  • 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]
  • The burst-suppression pattern usually evolves into atypical hypsarrhythmia or into multifocal paroxysms after 3 to 5 months of life. Erratic myoclonus does not generally have an ictal EEG counterpart.[intechopen.com]

Treatment

  • Rare grand mal seizures can occur during adolescence, after withdrawal of drug treatment. The psychomotor evolution is good if treatment is started early.[ncbi.nlm.nih.gov]
  • The best treatment combinations included topiramate, valproate, or the ketogenic diet.[scholars.northwestern.edu]
  • The prognosis for seizure control was excellent in all cases and reflex MS disappeared spontaneously or after valproate treatment. The cognitive outcome was excellent in 90.3% of children.[moh-it.pure.elsevier.com]

Prognosis

  • Abstract Severe myoclonic epilepsy of infancy (SMEI) is a recently identified seizure disorder with a uniformly poor prognosis. No successful therapy has been found for this disorder.[ncbi.nlm.nih.gov]

Etiology

  • Abstract Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous. Although genetic factors are thought to play an important role, to date very little is known about the etiology of these disorders.[ncbi.nlm.nih.gov]

Epidemiology

  • Public Health Importance The estimated incidence of the disease in the UK population is difficult to ascertain as historically this group of epilepsy syndromes have been excluded from epidemiological studies as they have been difficult to diagnose in[currents.plos.org]
  • ., Wegener, HC, and Tauxe, RV Epidemiology of Campylobacter jejuni infections in the United States and other industrialized nations.[books.google.es]
  • General Background Epidemiology According to the few available epidemiological data, BMEI seems to represent less than 1% of all the epilepsies (30 and unpublished data from the Centre Saint-Paul, 1999), 2% of all idiopathic generalized epilepsies (unpublished[neupsykey.com]
  • The author presents clinical and EEG manifestations, epidemiology, pathophysiology, differential diagnosis, and management of this rather benign early onset idiopathic myoclonic epilepsy.[medlink.com]
  • [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]
Sex distribution
Age distribution

Pathophysiology

  • […] a child diagnosed with benign myoclonic epilepsy of infancy, whose strictly unilateral and localized reflex myoclonias broaden the clinical spectrum of this idiopathic and generalized epileptic syndrome, and raise interrogations about its underlying pathophysiological[ncbi.nlm.nih.gov]
  • The author presents clinical and EEG manifestations, epidemiology, pathophysiology, differential diagnosis, and management of this rather benign early onset idiopathic myoclonic epilepsy.[medlink.com]
  • Pathophysiology Myoclonic seizures are generally the product of hypersynchronous, generalized cortical discharges. These discharges arise from hyperexcitable neuronal networks.[emedicine.medscape.com]
  • Pathophysiology The underlying mechanisms of these disorders are still poorly understood.[intechopen.com]

Prevention

  • Treatment Therapy is available for the prevention and control of recurrent seizures.[medical-dictionary.thefreedictionary.com]
  • Molecular testing prevented additional investigations in 67% of cases, altered treatment approach in 69%, helped medication choice in 74% and through medication change improved seizure control in 42%.[currents.plos.org]
  • Valproate is used as a first-line agent to prevent the recurrence of febrile seizures and oral/nasal/rectal benzodiazepine is used for any long-lasting seizures.[radiopaedia.org]
  • Am J Epidemiol, 1996 Vol. 143, No. 11, 1165-1172 Barlow WE, Davis RL, Glasser JW, Rhodes PH, Thompson RS, Mulloly JP, Black SB, Shinefield HR, Ward JI, Marcy SM, DeStefano F and Chen RT, for the Centers for Disease Control and Prevention Vaccine Safety[assis.it]
  • In addition, parents should also be aware that these drugs may prevent recurrences but do not alter the long-term prognosis for attaining seizure remission.[aafp.org]

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