Author/Authors :
Abed, Elsayed Department of Neurology - Faculty of Medicine - Al-Azhar University, Cairo, Egypt , Saeed, OmerM. Department of Neurology - Al-Araby international hospital, Monufia, Egypt , El-Hamid, BasemAbd Department of Internal Medicine - Faculty of Medicine - Al-Azhar University, Cairo, Egypt , Elsayed, Mohamed A. Department of Internal Medicine - Faculty of Medicine - Al-Azhar University, Cairo, Egypt , Dawoud, Heba Department of pediatrics - Faculty of Medicine - Tanta University, Egypt , Mohamed Heikal, Nahla Department of pediatrics - Faculty of Medicine - Tanta University, Egypt , Hanei Elshafie, Ahmed Department of Neurology - Shebin Elkom teaching hospital, Monufia, Egypt , Hagar, Aya Egyptian intensive care fellowship - Shebin Elkomteaching hospital, Monufia, Egypt , Emam, Hossam Department of Neurology - Faculty of Medicine - Al-Azhar University, Cairo, Egypt , Farag El-adawey, Ahmed Department of Neurology - Faculty of Medicine - Al-Azhar University, Cairo, Egypt , Fayed, Abdel-Ghaffar Department of Neurology - Faculty of Medicine - Al-Azhar University, Cairo, Egypt , Hassan Elsheshiny, Ahmed Department of Neurology - Faculty of Medicine - Al-Azhar University, Cairo, Egypt , Galal Ahmed, Mahmoud Department of Neurology - Faculty of Medicine - Al-Azhar University, Cairo, Egypt
Abstract :
Porphyria is a challenging metabolic disease due to its heterogeneous presentation symptoms and its difficult
diagnosis. Many affected individuals can complain of recurrent neuro-visceral attacks per year, some of which
may be persistent and life-threatening, which is confusing if there is no established diagnosis. Although the
motor manifestations, autonomic changes and seizure are highly suggestive, the diagnosis is often overlooked
and needs confirmatory genetic testing. To the best of our knowledge, the acute intermittent porphyria (AIP)
reported in this case, involving severe electrolyte disturbances and rapid severeweakness is a challenging neurometabolic
case and is extremely rare worldwide. Here, we reported a case of AIP in a young girl who presented
to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain,
constipation, and headache which had started 10 days ago. It seems that the diagnosis of porphyria should be
considered particularly in those patients with abdominal complaints associated with electrolyte disturbances,
seizures, and severe progressive neuropathy.
