Rare Diseases Symptoms Automatic Extraction

Epilepsy and phenylketonuria: a case description and EEG-fMRI findings.

[phenylketonuria]

Phenylketonuria (PKU) is characterized by phenylalanine accumulation due to phenylalanine hydroxylase deficiency. Up to 50% of PKU patients experience seizures. We evaluated an adult PKU patient who suffered from absences and primarily generalized tonicclonic seizures, associated with generalized spikeand-wave discharges (GSWs) on EEG. An analysis of blood oxygenation level-dependent (BOLD) signal changes during interictal epileptiform discharges showed early activation of the left perirolandic cortex followed by a BOLD signal decrease within cortical regions belonging to the default mode network and left frontoparietal cortex. Moreover, deactivation of the head of the right caudate nucleus and the left thalamus was observed. The fMRI pattern observed in our patient during GSWs is similar but not identical to that observed in idiopathic generalized epilepsy, suggesting different neurophysiological mechanisms. This is the first description of BOLD-fMRI patterns in a PKU patient with epilepsy. Similar studies in more patients might help to uncover the pathophysiology of seizures in this disease.

Diseases presenting "first description" symptom

  • cystinuria
  • dedifferentiated liposarcoma
  • erythropoietic protoporphyria
  • kabuki syndrome
  • monosomy 21
  • oral submucous fibrosis
  • phenylketonuria
  • systemic capillary leak syndrome

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