Table 1 Review all reported AIP cases with symptoms including seizures, PRES, and peripheral neuropathy
From: An easily overlooked disease in the early stages: acute intermittent porphyria
Case | Author (year) | Age/Sex | Inducement | Initial symptom | CNS | PNS | ANS | gene | Treatment | Recurrence | Prognosis |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 [8] | M Celik 2002 | 20/F | After a caesarean section | Seizure | Seizure, disturbance of consciousness, seizure, visual hallucinations, PRES | Quadriplegic, hoarseness, facial diplegia, respiratory failure | Tachycardia, hypertension , hyponatremia | NA | NA | NA | Recovered spontaneous respiration after 3Â months but remained quadriplegic |
2 [9] | C Gürses 2008 | 25/F | NA | Abdominal pain, dysuria | Generalized tonic–clonic seizure, disturbance of consciousness, PRES | Quadriplegic | Tachycardia, hypertension , hyponatremia | NA | NA | Seizures recurred after 5 months | Walk slowly but without assistance, and still has mild limbs weakness after 18 months |
3 [10] | Feng-Chih Shen 2008 | 60/M | NA | Abdominal pain, nausea, vomiting | Generalized motor seizure, PRES, acute confusional state including disorientation, psychosis, and agitation | Quadriplegic, facial diplegia, hoarseness, respiratory failure | Tachycardia, hypertension, acute pancreatitis | NA | Received intravenous glucose therapy at a rate of 10Â g/h for 2Â days (still developed) and hematin (4Â mg/kg/day) was administrated for another 14Â days | NA | Mild residual polyneuropathy was noted after 4Â months |
4 [11] | Almazán, MCD 2012 | 29/M | NA | Abdominal pain, nausea, vomiting, Constipation, dark colored urine | tonic–clonic seizure, consisting of drowsiness, incoherent speech, hallucinations, PRES | Multilevel axonal polyneuropathy | abdominal pain, hyper- tension, tachycardia, hyponatremia | A N272H mutation in the HMBS gene | Treatment with glucose and hemin | NA | At discharge from the ICU after 15 days, only impaired tendon reflexes persisted |
5 [12] | Smilu Mohanlal 2016 | 11/M | NA | Abdominal pain, generalized tonic–clonic seizure | seizure, PRES | Quadriplegic, respiratory muscle weakness, right Lower Motor Neuron (LMN) facial nerve palsy, IXth and Xth cranial nerve palsy (sensory motor axonal polyneuropathy) | Abdominal pain, hypertension , hyponatremia | NA | Treated symptomatically, physiotherapy and nutritional rehabilitation | NA | Quadriplegic resolved in over 6 months and no further attacks of abdominal pain and seizure |
6 [13] | Mohammed Alqwaifly 2019 | 27/F | Pregnancy | Abdominal pain, nausea, vomiting | Seizure, PRES | Multilevel axonal polyneuropathy | Abdominal pain, nausea, vomiting, hyponatremia | NA | Received injection of hemin intravenously and supportive therapy | NA | Resolution of weakness and seizures but had a spontaneous abortion |
7 [14] | Yang Yang 2020 | 36/F | Pregnancy | Abdominal pain | Seizure, blurred vision, impaired speech, memory impairment, PRES | Quadriplegia | Abdominal pain | c.405-406delAA in exon 8 of the HMBS gene | Treated by intravenous infusion of 300Â g/day of glucose | NA | Complete recovery was achieved after 2Â weeks of conservative treatment and then terminate the pregnancy |
8 [15] | Mohamed Ahmed Ahmed 2020 | 23/M | Drug | Abdominal pain, tachycardia, hypertension | Generalized tonic–clonic seizure, PRES, psychiatric symptom including depression and anorexia nervosa | Motor axonal polyneuropathy | Abdominal pain, tachycardia, hypertension | NA | Treated with a high carbohydrate diet, a continuous intravenous infusion of 10% dextrose solution delivered by a nasogastric tube and hemin therapy | NA | The symptoms had resolved within 2 weeks |
9 [16] | Vachiravit Sriprakoon 2022 | 14/F | Fasting | Abdominal pain, nausea, vomiting | Generalized tonic–clonic seizure, PRES | Quadriplegia | Abdominal pain, nausea, vomiting, hypertension | a c.517C > T (p.Arg173Trp) mutation in the HMBS gene | Received intravenous glucose therapy and a high carbohydrate diet | 1 to 2 acute attacks per year | Returning to normal at 8 weeks after the onset of the acute attack |
10 [17] | Jie Lin 2024 | 23/F | Menstruation | Insomnia, unresponsiveness | Seizures, PRES, insomnia, unresponsiveness, psychiatric symptoms, depression, irritability | Quadriplegic, dysphagia, shortness of breath (sensory motor axonal polyneuropathy) | Abdominal pain, lumbago, urination difficulties, intestinal obstruction | a c.518G > A (p.R173Q) mutation in the HMBS gene | Progesterone injections of 20 mg once daily intramuscularly to delay menstruation, injections of glucose 150 g twice daily intranasally and intermittent high-sugar diet after discharge | NA | Stand on her own and could breathe on her own, but emotional irritability |