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Seizure control in a patient with Dravet syndrome and cystic fibrosis.

Schmalbach B, Moeller B, von Spiczak S, Muhle H, Stephani U, Lang N - Epilepsy Behav Case Rep (2013)

Bottom Line: Some success can be achieved with bromides, but cognitive side effects and disturbed vigilance may limit their use.Here, we present the case of a successfully treated patient with DS and remarkable features in the course of his disease: additionally to DS, the patient was diagnosed with cystic fibrosis (CF), another genetic channelopathy.Seizure freedom could be achieved under treatment with potassium bromide at the age of 15, but at the age of 20, adverse events made it necessary to stop bromide treatment.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Christian-Albrechts-University of Kiel, Arnold-Heller-Str. 3, Haus 41, 24105 Kiel, Germany.

ABSTRACT
Satisfactory treatment of patients with Dravet syndrome (DS) is often difficult. Some success can be achieved with bromides, but cognitive side effects and disturbed vigilance may limit their use. Here, we present the case of a successfully treated patient with DS and remarkable features in the course of his disease: additionally to DS, the patient was diagnosed with cystic fibrosis (CF), another genetic channelopathy. Seizure freedom could be achieved under treatment with potassium bromide at the age of 15, but at the age of 20, adverse events made it necessary to stop bromide treatment. After conversion to valproic acid, the patient remained seizure-free, and neuropsychological tests demonstrated sustained improvement of cognition.

No MeSH data available.


Related in: MedlinePlus

Schematic illustration of course of disease including medication, types and frequency of seizures, and education. When potassium bromide was reduced for the first time at the age of 17, a seizure occurred at a dosage of 850 mg/d, this is why the dosage of potassium bromide was subsequently increased up to 2125 mg. Under this treatment, the patient remained seizure-free once more. Due to intolerable side effects (cognition and skin), potassium bromide was tapered down again at the age of twenty, this time, over an interval of 8 months and after a treatment with valproic acid was initiated. The patient remained seizure-free under monotherapy with valproic acid.
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f0005: Schematic illustration of course of disease including medication, types and frequency of seizures, and education. When potassium bromide was reduced for the first time at the age of 17, a seizure occurred at a dosage of 850 mg/d, this is why the dosage of potassium bromide was subsequently increased up to 2125 mg. Under this treatment, the patient remained seizure-free once more. Due to intolerable side effects (cognition and skin), potassium bromide was tapered down again at the age of twenty, this time, over an interval of 8 months and after a treatment with valproic acid was initiated. The patient remained seizure-free under monotherapy with valproic acid.

Mentions: We present the case of a male patient who developed, after diagnosis of cystic fibrosis (CF) at the age of three months, febrile seizures at the age of one and at the age of three, afebrile seizures, among them generalized tonic-clonic seizures, myoclonic seizures, and atypical absences. An MRI scan of the brain at the age of three did not reveal any abnormality. Given the clinical course, DS was suspected, and DNA sequence analysis of the SCN1A gene proved a de novo missense mutation, p.S1231T in exon 18, which results in an amino acid substitution in the D3S1 segment [5]. After insufficient sustained effect of antiepileptic treatment with benzodiazepines, barbiturates, primidone, sultiame, and valproic acid in varying combinations, the patient received potassium bromide in addition to valproic acid, primidone, and sultiame, which finally led to a cessation of seizures at the age of 7 years except for rare fever-induced seizures. Subsequently, valproic acid, primidone, and sultiame could be terminated, and the patient remained seizure-free under a monotherapy with 2550 mg of potassium bromide daily. Potassium bromide could be gradually reduced to 1700 mg without onset of seizures. At the age of 17, a further attempt of dose reduction was performed, and seizures reoccurred when the daily dose was reduced to 850 mg, but the patient became seizure-free once more with a daily dose of 2125 mg potassium bromide. At the age of 20, the patient was still seizure-free, but acne pustulosa and cognitive side effects were evident and attributed to the treatment with potassium bromide. A conversion of the antiepileptic therapy from potassium bromide to valproic acid was initiated, with an initial daily dose of 150 mg valproic acid being slowly increased weekly by 150 mg to a final daily dose of 1200 mg. Subsequently, bromide was slowly reduced over a period of eight months, with a reduction of 425 mg every two months. Since then, the patient remained seizure-free under a monotherapy with valproic acid for more than two years, and he is presently 23 years old (Fig. 1).


Seizure control in a patient with Dravet syndrome and cystic fibrosis.

Schmalbach B, Moeller B, von Spiczak S, Muhle H, Stephani U, Lang N - Epilepsy Behav Case Rep (2013)

Schematic illustration of course of disease including medication, types and frequency of seizures, and education. When potassium bromide was reduced for the first time at the age of 17, a seizure occurred at a dosage of 850 mg/d, this is why the dosage of potassium bromide was subsequently increased up to 2125 mg. Under this treatment, the patient remained seizure-free once more. Due to intolerable side effects (cognition and skin), potassium bromide was tapered down again at the age of twenty, this time, over an interval of 8 months and after a treatment with valproic acid was initiated. The patient remained seizure-free under monotherapy with valproic acid.
© Copyright Policy
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC4150651&req=5

f0005: Schematic illustration of course of disease including medication, types and frequency of seizures, and education. When potassium bromide was reduced for the first time at the age of 17, a seizure occurred at a dosage of 850 mg/d, this is why the dosage of potassium bromide was subsequently increased up to 2125 mg. Under this treatment, the patient remained seizure-free once more. Due to intolerable side effects (cognition and skin), potassium bromide was tapered down again at the age of twenty, this time, over an interval of 8 months and after a treatment with valproic acid was initiated. The patient remained seizure-free under monotherapy with valproic acid.
Mentions: We present the case of a male patient who developed, after diagnosis of cystic fibrosis (CF) at the age of three months, febrile seizures at the age of one and at the age of three, afebrile seizures, among them generalized tonic-clonic seizures, myoclonic seizures, and atypical absences. An MRI scan of the brain at the age of three did not reveal any abnormality. Given the clinical course, DS was suspected, and DNA sequence analysis of the SCN1A gene proved a de novo missense mutation, p.S1231T in exon 18, which results in an amino acid substitution in the D3S1 segment [5]. After insufficient sustained effect of antiepileptic treatment with benzodiazepines, barbiturates, primidone, sultiame, and valproic acid in varying combinations, the patient received potassium bromide in addition to valproic acid, primidone, and sultiame, which finally led to a cessation of seizures at the age of 7 years except for rare fever-induced seizures. Subsequently, valproic acid, primidone, and sultiame could be terminated, and the patient remained seizure-free under a monotherapy with 2550 mg of potassium bromide daily. Potassium bromide could be gradually reduced to 1700 mg without onset of seizures. At the age of 17, a further attempt of dose reduction was performed, and seizures reoccurred when the daily dose was reduced to 850 mg, but the patient became seizure-free once more with a daily dose of 2125 mg potassium bromide. At the age of 20, the patient was still seizure-free, but acne pustulosa and cognitive side effects were evident and attributed to the treatment with potassium bromide. A conversion of the antiepileptic therapy from potassium bromide to valproic acid was initiated, with an initial daily dose of 150 mg valproic acid being slowly increased weekly by 150 mg to a final daily dose of 1200 mg. Subsequently, bromide was slowly reduced over a period of eight months, with a reduction of 425 mg every two months. Since then, the patient remained seizure-free under a monotherapy with valproic acid for more than two years, and he is presently 23 years old (Fig. 1).

Bottom Line: Some success can be achieved with bromides, but cognitive side effects and disturbed vigilance may limit their use.Here, we present the case of a successfully treated patient with DS and remarkable features in the course of his disease: additionally to DS, the patient was diagnosed with cystic fibrosis (CF), another genetic channelopathy.Seizure freedom could be achieved under treatment with potassium bromide at the age of 15, but at the age of 20, adverse events made it necessary to stop bromide treatment.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Christian-Albrechts-University of Kiel, Arnold-Heller-Str. 3, Haus 41, 24105 Kiel, Germany.

ABSTRACT
Satisfactory treatment of patients with Dravet syndrome (DS) is often difficult. Some success can be achieved with bromides, but cognitive side effects and disturbed vigilance may limit their use. Here, we present the case of a successfully treated patient with DS and remarkable features in the course of his disease: additionally to DS, the patient was diagnosed with cystic fibrosis (CF), another genetic channelopathy. Seizure freedom could be achieved under treatment with potassium bromide at the age of 15, but at the age of 20, adverse events made it necessary to stop bromide treatment. After conversion to valproic acid, the patient remained seizure-free, and neuropsychological tests demonstrated sustained improvement of cognition.

No MeSH data available.


Related in: MedlinePlus