the most commonly reported types of seizures are complex partial seizures and tonic - clonic seizures [ 4 , 5 ] , even though eeg documentation of such seizures have been sparse . status epilepticus has also been rarely reported . here ,
we report two patients with hereditary coproporphyria ( hcp ) who presented with status epilepticus and an eeg documentation .
a 49-year - old right - handed man with a past medical history of berger 's disease presented to the emergency room on december 13 , 2009 , for a 1-min - long tonic - clonic seizure and increasing confusion over the past week .
, he developed continuous right hand myoclonic jerks compatible with epilepsia partialis continua ( epc ) .
repeat brain mri performed 3 days after admission disclosed non - enhancing high t2 and flair signal changes over the bilateral temporal lobes ( fig .
1 ) . brain pet revealed focal hypermetabolism over the bilateral frontal and temporal lobes , predominantly over the left side .
bacteriological , viral serological ( including herpes simplex virus pcr ) workup , immunologic parameters as well as toxicology screen revealed no abnormal findings .
while the confusion progressively waned , epc persisted despite several antiepileptic drug trials ( phenytoin , valproic acid , carbamazepine , clobazam , lamotrigine ) .
a probable diagnosis of hpc was eventually made when urine coproporphyrins and fecal total porphyrins returned to twice the normal range ( even when testing was made 9 days after admission while the patient was improving ) .
these abnormal results could not be explained by other conditions which have previously been associated with secondary coproporphyrinurias such as abuse of toxic substances , liver diseases , malignancies , diverse hematological diseases , etc . .
over the last 3 years , the patient has continued to present non - disabling epc ( manifesting only as very low - amplitude right hand myoclonic jerks ) and has had a total of four tonic - clonic seizures in the context of alcohol consumption .
he remains with mild memory problems and is currently treated with levetiracetam . on the last brain mri
( 2 years after initial setting ) , t2 signal changes had decreased significantly ( fig .
a 30-year - old man , known only for a generalized anxiety disorder , was brought to the emergency room on november 16 , 2011 , in convulsive status epilepticus preceded over the last 3 days by nausea , vomiting and headaches .
initial management included intravenous benzodiazepines and phenytoin followed by intubation and a perfusion of midazolam and propofol .
the patient then evolved to epc as he presented continuous left hand and mouth myoclonic jerks , very rarely associated with altered consciousness .
4 ) showed diffuse slowing , sometime associated with right frontotemporal periodic lateralized epileptiform discharges .
mri disclosed right hemispheric gyriform increased signal on t2-weighted images , restricted diffusion on dwi / adc images and mild midline shift to the left .
brain pet revealed focal hypermetabolism over the right frontal and temporal lobes , and to a lesser extent in the right occipital region .
as in the first patient , bacteriological , viral serological workup as well as immunologic parameters failed to disclose a plausible cause .
his condition eventually worsened , with decreased level of consciousness leading to intubation , despite large spectrum antibiotics , acyclovir , several antiepileptic drug trials ( phenobarbital , levetiracetam , lacosamide , topiramate , vigabatrin , gabapentin ) and immunotherapy ( intravenous immunoglobulins , plasma exchanges ) . diagnosis of porphyria was made when results from urine , fecal and serum porphyrins returned elevated at 3 weeks after admission .
one month and a half after admission and despite hematin therapy and withdrawal of porphyrinogenic drugs , the patient eventually died from brain edema secondary to the status epilepticus , after he had suffered a porphyric attack from an isoflurane trial .
later , genetic testing confirmed hcp with a rare homozygous missense g189s mutation in the coproporphyrinogen iii oxidase gene .
a 49-year - old right - handed man with a past medical history of berger 's disease presented to the emergency room on december 13 , 2009 , for a 1-min - long tonic - clonic seizure and increasing confusion over the past week .
, he developed continuous right hand myoclonic jerks compatible with epilepsia partialis continua ( epc ) .
repeat brain mri performed 3 days after admission disclosed non - enhancing high t2 and flair signal changes over the bilateral temporal lobes ( fig .
1 ) . brain pet revealed focal hypermetabolism over the bilateral frontal and temporal lobes , predominantly over the left side .
bacteriological , viral serological ( including herpes simplex virus pcr ) workup , immunologic parameters as well as toxicology screen revealed no abnormal findings .
while the confusion progressively waned , epc persisted despite several antiepileptic drug trials ( phenytoin , valproic acid , carbamazepine , clobazam , lamotrigine ) .
a probable diagnosis of hpc was eventually made when urine coproporphyrins and fecal total porphyrins returned to twice the normal range ( even when testing was made 9 days after admission while the patient was improving ) .
these abnormal results could not be explained by other conditions which have previously been associated with secondary coproporphyrinurias such as abuse of toxic substances , liver diseases , malignancies , diverse hematological diseases , etc . .
over the last 3 years , the patient has continued to present non - disabling epc ( manifesting only as very low - amplitude right hand myoclonic jerks ) and has had a total of four tonic - clonic seizures in the context of alcohol consumption .
he remains with mild memory problems and is currently treated with levetiracetam . on the last brain mri
( 2 years after initial setting ) , t2 signal changes had decreased significantly ( fig .
a 30-year - old man , known only for a generalized anxiety disorder , was brought to the emergency room on november 16 , 2011 , in convulsive status epilepticus preceded over the last 3 days by nausea , vomiting and headaches .
initial management included intravenous benzodiazepines and phenytoin followed by intubation and a perfusion of midazolam and propofol .
the patient then evolved to epc as he presented continuous left hand and mouth myoclonic jerks , very rarely associated with altered consciousness .
4 ) showed diffuse slowing , sometime associated with right frontotemporal periodic lateralized epileptiform discharges .
mri disclosed right hemispheric gyriform increased signal on t2-weighted images , restricted diffusion on dwi / adc images and mild midline shift to the left .
brain pet revealed focal hypermetabolism over the right frontal and temporal lobes , and to a lesser extent in the right occipital region .
as in the first patient , bacteriological , viral serological workup as well as immunologic parameters failed to disclose a plausible cause .
his condition eventually worsened , with decreased level of consciousness leading to intubation , despite large spectrum antibiotics , acyclovir , several antiepileptic drug trials ( phenobarbital , levetiracetam , lacosamide , topiramate , vigabatrin , gabapentin ) and immunotherapy ( intravenous immunoglobulins , plasma exchanges ) . diagnosis of porphyria was made when results from urine , fecal and serum porphyrins returned elevated at 3 weeks after admission .
one month and a half after admission and despite hematin therapy and withdrawal of porphyrinogenic drugs , the patient eventually died from brain edema secondary to the status epilepticus , after he had suffered a porphyric attack from an isoflurane trial .
later , genetic testing confirmed hcp with a rare homozygous missense g189s mutation in the coproporphyrinogen iii oxidase gene .
porphyrias are uncommon , complex metabolic disorders caused by deficiencies in the activities of the seven out of eight enzymes of the heme biosynthetic pathway .
they are generally subdivided into acute and non - acute porphyrias on the basis of their major clinical manifestations .
the acute porphyrias are well - defined genetic disorders of heme biosynthesis characterized by acute life - threatening attacks of nonspecific neurologic symptoms .
these acute porphyrias are comprised of acute intermittent porphyria ( aip ) , hcp , variegate porphyria ( vp ) and 5-aminolevulinic acid dehydratase porphyria ( adp ) in which aip is the most frequent type .
the combined prevalence of the acute porphyrias is approximately 5 cases per 100,000 persons , they are more common in women than in men , and often generally develop during adult life .
acute porphyric attacks can be exacerbated by a variety of factors , including porphyrinogenic drugs , alcohol , endogenous hormones particularly progesterone , pregnancy , cigarette smoking , metabolic stress induced by infections or surgery and reduced caloric intake .
misdiagnoses of porphyrias are common because the signs and symptoms of acute attacks are variable and may mimic many other diseases . they can present with acute neurovisceral attacks , which may be accompanied by skin lesions in hcp and vp .
abdominal pain , reported approximately in 8595% of patients , is often accompanied by nausea , vomiting , constipation and diarrhea .
other symptoms include acute psychiatric symptoms , seizures , tachycardia and hypertension , and peripheral neuropathy .
the most common types of seizures reported in the literature consist of complex partial or tonic - clonic seizures .
a summary of these previously reported cases is presented in table 1 [ 6 , 7 , 8 , 9 , 10 ] along with our cases .
status epilepticus was part of the initial presentation for all subjects with the presence of visceral symptoms in two .
the type of status varied greatly from convulsive status epilepticus to non - convulsive status epilepticus , complex partial status and epc .
non - surprisingly , confirmation of diagnosis led to modification of the treatment regimen with good outcome for all patients except one ( case 2 ) .
out of the previously five reported cases , 3 patients had aip , 1 patient had vp and 1 had an unknown type of acute porphyria , while both of our patients had hcp .
current understanding of the pathogenesis of seizures suggests the hepatic production of a neurotoxic substance , presumably ala [ a -aminobutyric acid ( gaba ) analogue ] and/or pbg which may interact with gaba or glutamate receptors .
a combination of endothelial dysfunction , hypoperfusion , and vasoconstriction in this setting of neurotoxicity can lead to a compromise of the blood - brain barrier and brain edema .
mri may help detect changes occurring in the brain at the time of the acute attack though lesions are non - specific ( cortically and/or subcortically , anterior or posterior , without or with mild enhancement , generally but not always reversible ) [ 11 , 12 ] .
seizures , when they occur , are a therapeutic challenge because most aeds ( phenobarbital , carbamazepine , clonazepam , phenytoin , primidone , ethosuximide , valproic acid , lamotrigine , felbamate , tiagabine , topiramate ) may exacerbate attack of acute porphyria .
drugs reported to be relatively safe include gabapentin [ 6 , 8 , 14 ] , levetiracetam , and possibly oxcarbazepine .
although rare , their recognition is important as it modifies significantly patient management and probably their outcome .
 purposethe porphyrias are a defect in the biosynthesis of heme which can be associated with different neurological symptoms during acute attacks such as peripheral neuropathy , mental disturbance and seizures . 
 so far , there have only been a few case reports of status epilepticus , none of which were of epilepsia partialis continua ( epc ) . 
 we present here two cases of hereditary coproporphyria ( hcp ) manifesting epc as part of the clinical presentation.methodthe patients medical charts , eeg and imaging studies were carefully reviewed.resultscase 1 is a 49-year - old male who first presented a tonic - clonic seizure . 
 case 2 is a 30-year - old male who came to the emergency room for a convulsive status epilepticus . both evolved to epc over the next days . 
 epc persisted despite several antiepileptic drug trials . 
 diagnosis of hcp was confirmed by a high level of urine , fecal and serum porphyrins in both cases and by genetic testing in one . over the last 3 years 
 , the first patient has continued to present non - disabling epc and has had four tonic - clonic seizures associated with alcohol consumption . 
 the second patient died from brain edema one month and half after admission.conclusionacute porphyrias should be included in the differential diagnosis of new onset status epilepticus , including epc . 
 their recognition is important as it modifies significantly patient management , since many anticonvulsants are porphyrogenic . 
Introduction
Case Summaries
Case 1
Case 2
Discussion
Conclusion