Recurrent seizures in an adolescent female-A daunting puzzle

Abstract

Acute porphyrias are metabolic disorders resulting from deficiency of a specific enzyme involved in heme biosynthetic pathway. These deficiencies also affect normal renal physiology, as kidneys are also involved in heme synthesis. Sometimes, this could even lead to end stage renal disease. Acute Intermittent Porphyria, an autosomal dominant disorder arising from half-normal activity of hydroxymethylbilane synthase, is characterized by occurrence of vague neurovisceral attacks (abdominal pain, nausea, vomiting, constipation and neuropsychiatric symptoms), with urinary excretion of porphyrin precursors, such as 5-Amino-levulinic acid (ALA) and Porphobilinogen (PBG). Acute attacks are triggered by dehydration, diarrhea, steroids, low calorie diets. Treatment includes avoidance of precipitating factors, adequate hydration, high carbohydrate diet and heme replacement. Here, we present an adolescent female who had presented with recurrent abdominal pain, dyselectrolyemia with associated seizures, was diagnosed with Acute Intermittent Porphyria and recovered well with symptomatic management.

An Analysis and Literature Review of a Family Case of Acute Intermittent Porphyria With Initial Symptoms of Epileptic Seizure

“…For early diagnosis, Kazamel et al recommended conducting urinary porphobilinogen tests for any unexplained recurrent severe acute abdominal pain, especially in patients with concurrent neuropathic pain, hyponatremia, autonomic dysfunction, or encephalopathy [ 29 ]. The symptoms of the present case bear similarities to the case described by Subashri et al [ 30 ]. The patient was admitted for treatment with a chief complaint of "generalized spasticity."…”

“…However, upon further inquiry into the medical history, intermittent abdominal pain and significant electrolyte imbalances were found. There are differences in the timing and type of symptoms compared to the present case, but both cases did not present residual neurological dysfunction after treatment [ 30 ]. Kumar reported a case presenting solely with psychiatric symptoms, lacking any accompanying physical features, such as abdominal pain or neuropathy, which did not completely rule out the diagnosis [ 31 ].…”