SHM Converge Scientific Abstract ePoster Gallery-525,600 Minutes: One Year in the Hospital

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This case describes a 19-year-old medically complex male with a prolonged, one-year hospitalization whose diagnosis of acute intermittent porphyria (AIP) was ultimately confirmed only after whole-exome sequencing. He initially presented with recurrent nausea, vomiting, weakness, and a fall shortly after discharge for presumed cannabinoid hyperemesis syndrome. His history included VACTERL, ESRD status post kidney transplant, scoliosis surgery, PRES, steroid-induced diabetes, and depression/anxiety.<br /><br />Early in the hospitalization, his nonspecific findings were attributed to more common or familiar conditions, including cannabinoid hyperemesis syndrome, Guillain-Barré syndrome, acute flaccid myelitis, functional weakness, and CIDP. He developed progressive weakness, dysautonomia, mood changes, malnutrition, respiratory depression, AVNRT, bladder dysfunction, and significant mobility impairment. Despite extensive workup, including imaging, EMG studies, CSF testing, and rehabilitation-focused care, the underlying cause remained unclear for months.<br /><br />AIP was eventually identified as the unifying diagnosis after genetic testing revealed the causative mutation, with confirmatory serum/chemistry studies later obtained. The case highlights that AIP is an autosomal dominant heme synthesis disorder caused by porphobilinogen deaminase deficiency and can present with vague neurovisceral and neuropsychiatric symptoms such as abdominal pain, nausea/vomiting, anxiety, neuropathy, dysautonomia, seizures, and urinary changes.<br /><br />The presentation emphasizes the importance of considering rare diagnoses in medically complex patients when symptoms are persistent, multisystem, and unexplained. Early recognition of AIP may prevent complications such as worsening depression, paraplegia, contractures, and prolonged hospitalization. Potential flare triggers include certain medications, poor nutrition, stress, smoking, alcohol, and hormonal changes.

Asset Subtitle

Lauren Halsey

Meta Tag

Author List Jonathon Heath, Lauren Halsey, Rohit Jaswaney

Category Clinical Vignettes

Concept Acute Intermittent Porphyria

Concept Neurovisceral Symptoms

Concept Neuropsychiatric Symptom

Concept Porphobilinogen Deaminase

Concept Medication Trigger

Distinguished Non-Finalist

Presenter Organization UNC School of Medicine

Presenting Author Lauren Halsey

Track Pediatric

Keywords

acute intermittent porphyria

AIP

whole-exome sequencing

neurovisceral symptoms

dysautonomia

medically complex patient

cannabinoid hyperemesis syndrome

porphobilinogen deaminase deficiency

prolonged hospitalization

genetic diagnosis

Acute Intermittent Porphyria

Neurovisceral Symptoms

Neuropsychiatric Symptom

Porphobilinogen Deaminase

Medication Trigger