Porphyric encephalopathy in a 15-year-old girl: A case report
A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis. Brain magnetic resonance imaging scans showed diffuse, bilateral cortical and subcortical gray and white matter signal abnormalities. Electroe...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2025-01-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X241298532 |
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| author | Saihari S Dukkipati Jordan Terschluse Drew Thodeson Angela Beavers Melissa Muff-Luett Claire Ives Sookyong Koh |
| author_facet | Saihari S Dukkipati Jordan Terschluse Drew Thodeson Angela Beavers Melissa Muff-Luett Claire Ives Sookyong Koh |
| author_sort | Saihari S Dukkipati |
| collection | DOAJ |
| description | A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis. Brain magnetic resonance imaging scans showed diffuse, bilateral cortical and subcortical gray and white matter signal abnormalities. Electroencephalography showed background slowing and disorganization. Extensive evaluation for infection, toxic metabolic, autoimmune disorders, and vasculitis were negative. She was noted to have dark red-colored urine with no red blood cells. Her urine porphobilinogen level was markedly elevated, consistent with the diagnosis of acute intermittent porphyria. She was treated with intravenous hemin with resolution of her neurologic and gastrointestinal symptoms. A hydroxymethylbilane synthase (porphobilinogen deaminase) pathogenic variant was found in porphyria gene panel confirming the diagnosis of acute intermittent porphyria. This case demonstrates a diagnostic challenge posited by a presentation of new onset seizure and encephalopathy due to acute intermittent porphyria, a rare and often overlooked condition in pediatrics. |
| format | Article |
| id | doaj-art-717d9f6868f04fb1afb2caa8628e005a |
| institution | Kabale University |
| issn | 2050-313X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj-art-717d9f6868f04fb1afb2caa8628e005a2025-01-29T10:03:41ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2025-01-011310.1177/2050313X241298532Porphyric encephalopathy in a 15-year-old girl: A case reportSaihari S Dukkipati0Jordan Terschluse1Drew Thodeson2Angela Beavers3Melissa Muff-Luett4Claire Ives5Sookyong Koh6College of Medicine, University of Nebraska Medical Center, Omaha, NE, USACollege of Medicine, Creighton University, Omaha, NE, USADivision of Neurology, Department of Pediatrics, Children’s Hospital and Medical Center, Omaha, NE, USADivision of Pediatric Radiology, Children’s Hospital and Medical Center, Omaha, NE, USADivision of Pediatric Nephrology, Children’s Hospital and Medical Center, Omaha, NE, USADivision of Pediatric Hospital Medicine, Children’s Hospital and Medical Center, Omaha, NE, USADivision of Neurology, Department of Pediatrics, Children’s Hospital and Medical Center, Omaha, NE, USAA 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis. Brain magnetic resonance imaging scans showed diffuse, bilateral cortical and subcortical gray and white matter signal abnormalities. Electroencephalography showed background slowing and disorganization. Extensive evaluation for infection, toxic metabolic, autoimmune disorders, and vasculitis were negative. She was noted to have dark red-colored urine with no red blood cells. Her urine porphobilinogen level was markedly elevated, consistent with the diagnosis of acute intermittent porphyria. She was treated with intravenous hemin with resolution of her neurologic and gastrointestinal symptoms. A hydroxymethylbilane synthase (porphobilinogen deaminase) pathogenic variant was found in porphyria gene panel confirming the diagnosis of acute intermittent porphyria. This case demonstrates a diagnostic challenge posited by a presentation of new onset seizure and encephalopathy due to acute intermittent porphyria, a rare and often overlooked condition in pediatrics.https://doi.org/10.1177/2050313X241298532 |
| spellingShingle | Saihari S Dukkipati Jordan Terschluse Drew Thodeson Angela Beavers Melissa Muff-Luett Claire Ives Sookyong Koh Porphyric encephalopathy in a 15-year-old girl: A case report SAGE Open Medical Case Reports |
| title | Porphyric encephalopathy in a 15-year-old girl: A case report |
| title_full | Porphyric encephalopathy in a 15-year-old girl: A case report |
| title_fullStr | Porphyric encephalopathy in a 15-year-old girl: A case report |
| title_full_unstemmed | Porphyric encephalopathy in a 15-year-old girl: A case report |
| title_short | Porphyric encephalopathy in a 15-year-old girl: A case report |
| title_sort | porphyric encephalopathy in a 15 year old girl a case report |
| url | https://doi.org/10.1177/2050313X241298532 |
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