Panayiotopoulos syndrome

From Wikipedia, the free encyclopedia
Jump to: navigation, search

Panayiotopoulos syndrome is a common idiopathic childhood-related seizure disorder that occurs exclusively in otherwise normal children (idiopathic epilepsy) and manifests mainly with autonomic epileptic seizures and autonomic status epilepticus.[1] An expert consensus has defined Panayiotopoulos syndrome as "a benign age-related focal seizure disorder occurring in early and mid-childhood. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms, and by an EEG [electroencephalogram] that shows shifting and/or multiple foci, often with occipital predominance."[2]

Contents

[edit] Classification and nomenclature

Panayiotopoulos syndrome is now the formally approved nomenclature for this syndrome in the new International League against Epilepsy report on classification,[3] which abandoned a number of previously used descriptive terms such as early onset benign childhood epilepsy with occipital paroxysms, early onset benign childhood occipital epilepsy, nocturnal childhood occipital epilepsy. The reason for this is that these descriptive terms were criticized as incorrect because in Panayiotopoulos syndrome: (1) Onset of seizures is mainly with autonomic symptoms, which are not occipital lobe manifestations. (2) Of occipital symptoms, only deviation of the eyes may originate from the occipital regions, but this rarely occurs at onset. Visual symptoms are exceptional and not consistent in recurrent seizures. (3) Interictal occipital spikes may never occur. (4) Magnetoencephalography may show equivalent current dipoles clustering in the frontal areas. (5) Ictal EEG has documented variable onset from the posterior or anterior regions

[edit] History

Chrysostomos (Tomis) P. Panayiotopoulos described this syndrome and autonomic status epilepticus particular to childhood through a 30-year prospective study that started in Greece in 1975.[4] Initial publications included patients with EEG occipital paroxysms or occipital spikes that attracted the main attention, but later it became apparent that the same clinical manifestations, and mainly ictal vomiting, could occur in children with EEG extraoccipital spikes or normal EEG.

In Panayiotopoulos’ original study, ictal vomiting occurred in only 24 children out of 900 patients of all ages with epileptic seizures.[5] Twenty-one were otherwise normal children (idiopathic cases constituting what is now considered Panayiotopoulos syndrome), and 3 had symptomatic epilepsies. Half of the seizures were lengthy, lasting for hours (autonomic status epilepticus). The EEG of the 21 idiopathic cases showed great variations: 12 had occipital paroxysms or spikes alone or with extraoccipital spikes; 2 had central spikes and giant somatosensory evoked spikes; 2 had midline spikes; 1 had frontal spikes; 1 had brief generalized discharges; and 3 had consistently normal EEG. Subsequent attention was focused on the predominant group with occipital spikes, which was established as “early onset benign childhood epilepsy with occipital paroxysms”. The other group of 9 children with extraoccipital spikes or normal EEGs was reevaluated much later; their clinical manifestations and outcome were similar to those patients with occipital spikes. Based on these results, it has been concluded that these 21 children, despite different EEG manifestations, suffered from the same disease, which is now designated as Panayiotopoulos syndrome to incorporate all cases irrespective of EEG localizations.

However, there was initial scepticism and resistance to these findings, including from influential epileptologists because as explained by Ferrie and Livingston:[6]“(a) ictal vomiting had been considered as extremely rare and hitherto had been mainly described in neurosurgical series of adult patients. In children it was generally not considered as having an epileptic origin; (b) autonomic status epilepticus was not recognised as a diagnostic entity; the proposition that it might be a common occurrence in a benign seizure disorder challenged orthodox concepts of status epilepticus; (c) it implied that paediatricians had been failing to diagnose significant numbers of children with epilepsy, instead erroneously labeling then as having diverse non-epileptic disorders such as encephalitis, syncope, migraine, cyclic vomiting syndrome and gastroenteritis; (d) the characteristic EEG findings suggested alternative diagnoses. Occipital spikes suggested “childhood epilepsy with occipital paroxysms” of Gastaut; multifocal spikes suggested symptomatic epilepsies with poor prognosis.

The veracity of Panayiotopoulos’s initial descriptions has, over the last two decades, been confirmed in large and long term studies from Europe, Japan and South America. The published database on which our knowledge of PS is now based includes over 800 cases of all races; there are few epilepsy syndromes which are better characterised.”What emerges are a remarkably uniform clinical picture and a diagnosis which is strikingly useful in helping predict prognosis and dictate management.”[7]

Autonomic status epilepticus is the more common type of nonfebrile status epilepticus in otherwise normal children and has been assessed in a consensus statement.[8]

[edit] Epidemiology

Panayiotopoulos syndrome probably affects 13% of children aged 3 to 6 years who have had 1 or more afebrile seizures and 6% of such children in the 1- to 15-year age group.[9][10] All races are affected.

[edit] Clinical Features

Panayiotopoulos syndrome occurs exclusively in otherwise normal children and manifests mainly with infrequent autonomic epileptic seizures and autonomic status epilepticus.[11][12][13][14] Onset of seizures is from age 1 to 14 years with 76% starting between 3–6 years. Autonomic seizures consist of episodes of disturbed autonomic function with nausea, retching and vomiting as predominant symptoms. Other autonomic manifestations include pallor (or, less often, flushing or cyanosis), mydriasis (or, less often, miosis), cardiorespiratory and thermoregulatory alterations, incontinence of urine and/or feces, hypersalivation, and modifications of intestinal motility. In approximately one fifth of the seizures the child becomes unresponsive and flaccid (ictal syncope) before or often without convulsions. Syncopal-like attacks (ictal syncope) with the child becoming “completely unresponsive and flaccid like a rag doll” occur in one fifth of the seizures. Cardiorespiratory arrest is exceptional. More-conventional seizure symptoms often appear after the onset of autonomic manifestations. The child, who was initially fully conscious, becomes confused and unresponsive. Eyes turn to one side or gaze widely open. Only half of the seizures end with brief hemiconvulsions or generalized convulsions. Autonomic symptoms may be the only features of the seizures. None of the above symptoms alone is a prerequisite for diagnosis. Recurrent seizures may not be stereotyped. The same child may have brief or prolonged seizures and autonomic manifestations may be severe or inconspicuous.

Most of the seizures are prolonged and half of them last more than 30 minutes thus constituting autonomic status epilepticus, which is the more common nonconvulsive status epilepticus in normal children.[15] Characteristically, even after the most severe seizures and ASE, the child is normal after a few hours of sleep, which is both diagnostic and reassuring. Seizures can occur at any time but they are more common during sleep.

[edit] Diagnostic tests

An EEG (electroencephalogram) is the only investigation with abnormal results, usually showing multiple spikes in various brain locations.[16][17][18][19] There is marked variability of interictal EEG findings from normal to multifocal spikes that also change significantly in serial EEGs. Occipital spikes are common but not necessary for diagnosis. Frontal or centrotemporal spikes may be the only abnormality. Generalised discharges may happen alone or together with focal spikes. A few children have consistently normal EEG, including sleep EEG. EEG abnormalities may persist for many years after clinical remission. Conversely, spikes may appear only once in successive EEGs. Series of EEGs of the same child may present with all of the above variations from normal to very abnormal. EEG abnormalities do not appear to determine clinical manifestations, duration, severity, and frequency of seizures or prognosis. There are now significant reports of ictal EEGs, which objectively document the seizures of Panayiotopoulos syndrome and their variable localisation at onset.[20]

[edit] Etiology

Panayiotopoulos syndrome is probably genetically determined, though conventional genetic influences may be less important than other mechanisms. Usually, there is no family history of similar seizures, although siblings with Panayiotopoulos syndrome or Panayiotopoulos syndrome and rolandic epilepsy or, less common, Panayiotopoulos syndrome and idiopathic childhood occipital epilepsy of Gastaut have been reported. There is a high prevalence of febrile seizures (about 17%). SCN1A mutations have been reported in a child and in 2 siblings with relatively early onset of seizures, prolonged time over which many seizures have occurred, and strong association of seizures with febrile precipitants even after the age of 5 years. However, no such mutations were found in another couple of siblings and homozygous twins with typical Panayiotopoulos syndrome and no febrile seizure precipitants. These data indicate that SCN1A mutations when found contribute to a more severe clinical phenotype of Panayiotopoulos syndrome.

[edit] Pathophysiology

In Panayiotopoulos syndrome there is a diffuse multifocal cortical hyperexcitability, which is age (maturation)-related. This diffuse epileptogenicity may be unequally distributed, predominating in one area, which is often posterior. Epileptic discharges in Panayiotopoulos syndrome, irrespective of their location at onset, activate emetic and autonomic centers prior to any other conventional neocortical seizure manifestations. An explanation for this is that children are susceptible to autonomic disorders as illustrated by the cyclic vomiting syndrome, which is a nonepileptic condition specific to childhood.

Panayiotopoulos syndrome and all other benign childhood focal seizures, with rolandic epilepsy as their main representative, are probably linked due to a common, genetically-determined, mild, and reversible functional derangement of the brain cortical maturational process that Panayiotopoulos proposed as "benign childhood seizure susceptibility syndrome". The various EEG and seizure manifestations often follow an age- (maturation-) related localization. Panayiotopoulos syndrome is probably the early onset phenotype of the benign childhood seizure susceptibility syndrome. During a recorded autonomic seizure, there was a small increase in blood pressure (+5/4 mm Hg, systolic/diastolic), pronounced increases in heart rate (+59 bpm) and plasma concentrations of norepinephrine (+242 pg/mL), epinephrine (+175 pg/mL), and vasopressin (+22.1 pg/mL); serum glucose was also elevated (206 mg/dL).[21] The significant increase in plasma vasopressin may explain the emetic autonomic symptoms.

[edit] Misdiagnosis

The clinical features of Panayiotopoulos syndrome are frequently mistaken as nonepileptic conditions such as acute encephalitis, syncope, migraine, cyclic vomiting syndrome, motion sickness, sleep disorder, or gastroenteritis.[22] The consequence is avoidable misdiagnosis, high morbidity, and costly mismanagement.

[edit] Prognosis

Panayiotopoulos syndrome is remarkably benign in terms of its evolution.[23][24][25][26][27] The risk of developing epilepsy in adult life is probably no more than of the general population. Most patients have one or 2-5 seizures. Only a third of patients may have more than 5 seizures, and these may be frequent, but outcome is again favorable. However, one fifth of patients may develop other types of infrequent, usually rolandic seizures during childhood and early teens. These are also age-related and remit before the age of 16 years. Atypical evolutions with absences and drop attacks are exceptional. Children with pre-existing neurobehavioral disorders tend to be pharmacoresistant and have frequent seizures though these also remit with age. Formal neuropsychological assessment of children with Panayiotopoulos syndrome showed that these children have normal IQ and they are not on any significant risk of developing cognitive and behavioural aberrations, which when they occur they are usually mild reversible.[28] Prognosis of cognitive function is good even for patients with atypical evolutions.[29] However, though PS is benign in terms of its evolution, autonomic seizures are potentially life threatening in the rare context of cardiorespiratory arrest.[30]

[edit] Management

Continuous prophylactic antiepileptic drug (AED) treatment may not be needed particularly for children with only 1-2 or brief seizures. This is probably best reserved for children whose seizures are unusually frequent, prolonged, distressing, or otherwise significantly interfering with the child’s life. There is no evidence of superiority of monotherapy with any particular common AED.[31][32]

Autonomic status epilepticus in the acute stage needs thorough evaluation for proper diagnosis and assessment of the neurologic/autonomic state of the child. “Rescue” benzodiazepines are commonly used to terminate it. Aggressive treatment should be avoided because of the risk of iatrogenic complications, including cardiovascular arrest. There is some anecdotal concern that intravenous lorazepam and/or diazepam may precipitate cardiovascular arrest. Early parental treatment is more effective than late emergency treatment. Buccal midazolam is probably the first choice medication for out of hospital termination of autonomic status epilepticus which should be administered as soon as the child shows evidence of onset of its habitual autonomic seizures.

Parental education about PS is the cornerstone of correct management. The traumatizing, sometimes long-lasting effect on parents is significant particularly because autonomic seizures may last for many hours compounded by physicians’ uncertainty regarding diagnosis, management, and prognosis.[33]

[edit] References

  1. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
  2. ^ Ferrie C, Caraballo R, Covanis A, Demirbilek V, Dervent A, Kivity S et al. Panayiotopoulos syndrome: a consensus view. Dev Med Child Neurol 2006; 48(3):236-240.
  3. ^ Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross HJ, Van Emde Boas W et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51:676-685.
  4. ^ Panayiotopoulos CP. The Birth and Evolution of the Concept of Panayiotopoulos Syndrome. Epilepsia 2007; 48(6):1041-1043
  5. ^ Panayiotopoulos CP. Vomiting as an ictal manifestation of epileptic seizures and syndromes. J Neurol Neurosurg Psychiatr 1988; 51(11):1448-1451.
  6. ^ Ferrie CD, Livingston JH. Panayiotopoulos syndrome: learning lessons from atypical cases. Epileptic Disord 2010; 12(1):92-94
  7. ^ Ferrie CD, Livingston JH. Panayiotopoulos syndrome: learning lessons from atypical cases. Epileptic Disord 2010; 12(1):92-94
  8. ^ Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
  9. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
  10. ^ Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
  11. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
  12. ^ Koutroumanidis M. Panayiotopoulos Syndrome: An Important Electroclinical Example of Benign Childhood System Epilepsy. Epilepsia 2007; 48(6):1044-1053
  13. ^ Caraballo R, Cersosimo R, Fejerman N. Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 2007; 48(6):1054-1061.
  14. ^ Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
  15. ^ Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
  16. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
  17. ^ Caraballo R, Cersosimo R, Fejerman N. Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 2007; 48(6):1054-1061.
  18. ^ Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
  19. ^ Ohtsu M, Oguni H, Imai K, Funatsuka M, Osawa M. Early-onset form of benign childhood epilepsy with centro-temporal EEG foci - a different nosological perspective from panayiotopoulos syndrome. Neuropediatrics 2008; 39(1):14-19.
  20. ^ Specchio N, Trivisano M, Claps D, Battaglia D, Fusco L, Vigevano F. Documentation of autonomic seizures and autonomic status epilepticus with ictal EEG in Panayiotopoulos syndrome. Epilepsy Behav 2010; 19(3):383-393.
  21. ^ Gonzalez-Duarte A, et al, Cardiovascular and neuroendocrine features of Panayiotopoulos syndrome in three siblings, Epilepsy Behav (2011), doi:10.1016/j.yebeh.2011.03.006
  22. ^ Covanis A. Panayiotopoulos Syndrome: A Benign Childhood Autonomic Epilepsy Frequently Imitating Encephalitis, Syncope, Migraine, Sleep Disorder, or Gastroenteritis. Pediatrics 2006; 118(4):e1237-e1243 (doi:10.1542/peds.2006-0623).
  23. ^ Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhood epileptic syndrome. London: John Libbey & Company; 2002.
  24. ^ Koutroumanidis M. Panayiotopoulos Syndrome: An Important Electroclinical Example of Benign Childhood System Epilepsy. Epilepsia 2007; 48(6):1044-1053
  25. ^ Caraballo R, Cersosimo R, Fejerman N. Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 2007; 48(6):1054-1061.
  26. ^ Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
  27. ^ Specchio N, Trivisano M, Balestri M, Cappelletti S, Di Ciommo V, Gentile S et al. Panayiotopoulos syndrome: A Clinical, EEG and Neuropsychological Study of 93 Consecutive Patients. Epilepsia 2010; 51(10):2098-2107.
  28. ^ Specchio N, Trivisano M, Balestri M, Cappelletti S, Di Ciommo V, Gentile S et al. Panayiotopoulos syndrome: A Clinical, EEG and Neuropsychological Study of 93 Consecutive Patients. Epilepsia 2010; 51(10):2098-2107.
  29. ^ Caraballo R, Cersosimo R, Fejerman N. Panayiotopoulos syndrome: a prospective study of 192 patients. Epilepsia 2007; 48(6):1054-1061.
  30. ^ Ferrie CD, Caraballo R, Covanis A, Demirbilek V, Dervent A, Fejerman N et al. Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view. Epilepsia 2007; 48(6):1165-1172.
  31. ^ Ferrie C, Caraballo R, Covanis A, Demirbilek V, Dervent A, Kivity S et al. Panayiotopoulos syndrome: a consensus view. Dev Med Child Neurol 2006; 48(3):236-240.
  32. ^ Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131(Pt 9):2264-2286.
  33. ^ Valeta T. Parental attitude, reaction and education in benign childhood focal seizures. In: Panayiotopoulos CP, editor. The Epilepsies: Seizures, Syndromes and Management. Oxford: Bladon Medical Publishing; 2005. 258-261.
Retrieved from "http://en.wikipedia.org/w/index.php?title=Panayiotopoulos_syndrome&oldid=462728703"
Personal tools
Namespaces

Variants
Actions
Navigation
Interaction
Toolbox
Print/export