A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report
Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000. We present a case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal convulsions, hypertensio...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2016-10-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/8609/20464_CE(Ra1)_F(AK)_PF1(AHEKAK)_PFA(AK).pdf |
| Summary: | Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence
of AIP being 5 in 1,00,000. We present a case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal
convulsions, hypertension, hyponatremia with history of recurrent abdominal pain. His complete haemogram, ultrasonography (USG)
abdomen, renal function tests were normal, he was also evaluated for tuberculosis which was negative. On further evaluation Electroencephalography (EEG) was suggestive of a generalised seizure disorder, MRI Brain suggestive of Posterior Reversible Encephalopathy
Syndrome (PRES), Electromyography revealed a sensory motor axonal polyneuropathy and urine UV fluoresence test was positive for
porphobilinogen which clinched the diagnosis of AIP. |
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| ISSN: | 2249-782X 0973-709X |