Symptoms disappeared during sleep and precipitating factors were present in 94% cases. Most patients developed mental retardation with ataxia and dysarthria. Work-up tests (metabolic, neurophysiologic and radiologic) were normal or nonspecific. In 3 patients mutations in _CACNA1A, ATP1A2_ were ruled out. Positive responses to flunarizine was observed in 81%.
Alternating hemiplegia of childhood in Spanish population. Study of a series of 17 patients
 
  Key words
 
 
  
   Hemiplegia
  
 
 
  
   Dystonic attack
  
 
 
  
   Migraine
  
 
 
  
   Flunarizine
  
 
 
  
   Mental retardation
  
 
Background and objective
<dis>Alternating hemiplegia of childhood</dis> (<dis>AHC</dis>) is a rare disease of unknown etiology characterized by early onset of recurrent episodes of <dis>hemiplegia</dis>, tonic or dystonic attacks and abnormal ocular movements with a fatal outcome to severe encephalopathy.
Our aim was to describe the clinical manifestations, precipitating factors, complementary studies results, long-term outcome and response to treatment in a series of <dis>AHC</dis> patients.
Patients and method
Descriptive, retrospective and multicenter study in 17 Spanish patients aged between 1-24 years who fulfilled diagnostic criteria of <dis>AHC</dis>.
Results
12 cases fulfilled criteria of <dis>typical AHC</dis> and 5 were atypical.
Mean age at diagnosis was 26 months.
47% cases had a family history of migraine.
Mean age at onset of hemiplegic attacks was 9.6 months.
Symptoms disappeared during sleep and precipitating factors were present in 94% cases.
Most patients developed <dis>mental retardation</dis> with <dis>ataxia</dis> and <dis>dysarthria</dis>.
Work-up tests (metabolic, neurophysiologic and radiologic) were normal or nonspecific.
In 3 patients mutations in _CACNA1A, ATP1A2_ were ruled out.
Positive responses to flunarizine was observed in 81%.
Conclusions
The characteristic clinical symptoms are still the clue to make the diagnosis of this mysterious disease, with a lack of genetic, biochemical or radiological specific studies.
Early diagnosis avoids invasive tests, repeating procedures, using ineffective and potentially toxic treatments, and allows to start treatment with flunarizine without delay.
More genetic studies are needed in broader series of patients.
Background and objective
Alternating hemiplegia of childhood (AHC) is a rare disease of unknown etiology characterized by early onset of recurrent episodes of hemiplegia, tonic or dystonic attacks and abnormal ocular movements with a fatal outcome to severe encephalopathy.
Our aim was to describe the clinical manifestations, precipitating factors, complementary studies results, long-term outcome and response to treatment in a series of AHC patients.
Patients and method
Descriptive, retrospective and multicenter study in 17 Spanish patients aged between 1-24 years who fulfilled diagnostic criteria of AHC.
Results
12 cases fulfilled criteria of typical AHC and 5 were atypical.
Mean age at diagnosis was 26 months.
47% cases had a family history of migraine.
Mean age at onset of hemiplegic attacks was 9.6 months.
Symptoms disappeared during sleep and precipitating factors were present in 94% cases.
Most patients developed mental retardation with ataxia and dysarthria.
Work-up tests (metabolic, neurophysiologic and radiologic) were normal or nonspecific.
In 3 patients mutations in _CACNA1A, ATP1A2_ were ruled out.
Positive responses to flunarizine was observed in 81%.
Conclusions
The characteristic clinical symptoms are still the clue to make the diagnosis of this mysterious disease, with a lack of genetic, biochemical or radiological specific studies.
Early diagnosis avoids invasive tests, repeating procedures, using ineffective and potentially toxic treatments, and allows to start treatment with flunarizine without delay.
More genetic studies are needed in broader series of patients.
Symptoms disappeared during sleep and precipitating factors were present in 94% cases. Most patients developed <dis>mental retardation</dis> with <dis>ataxia</dis> and <dis>dysarthria</dis>. Work-up tests (metabolic, neurophysiologic and radiologic) were normal or nonspecific. In 3 patients mutations in _CACNA1A, ATP1A2_ were ruled out. Positive responses to flunarizine was observed in 81%.
mental retardation
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ataxia
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dysarthria
DISABILITY