Dados do Trabalho

Título

Abdominal pain and flaccid tetraparesis in a young alcoholic man: an atypical case of Acute Intermittent Porphyria (AIP)

RESUMO

CASE REPORT: A 38-year-old man is admitted in January-2022 with worsening abdominal pain that started 4 months ago. The pain was triggered by alcohol ingestion, associated with abdominal distension, nausea and vomiting. He was hospitalized. He realized a computed tomography (CT) scan of the abdomen, which showed distension of the loops, without obstruction. He was previously healthy, had been drinking for 10 years, denied smoking and illicit drugs, hadn't had a similar episode nor family history. No urinary changes. He had seizures, psychomotor agitation, dysphagia, dysphonia, diparesis, signs of dysautonomia and progressive proximal paraparesis, progressing to areflexic flaccid tetraparesis. Normal brain CT, cerebrospinal fluid (CSF) study with 3 erythrocytes, 2 cells, glucose 85, proteins 95, LDH 25 and electroneuromyography (ENMG): a predominantly subacute motor axonal polyneuropathy of the four limbs with F waves and reflex normal H. He evolved with respiratory failure, was intubated, and plasmapheresis was initiated, as it was not possible to exclude an acute polyradiculoneuropathy. The hypothesis of AIP was also raised, and the urinary dosage of porphobilinogen (UDPBG) and genetic tests were positive.

DISCUSSION:
Acute hepatic porphyrias (AHP) are those in which enzyme deficiency occurs in the liver, with AIP being the most common. AHP mainly affects the central and peripheral nervous system by increasing the production of neurotoxic precursors (delta-aminolevulinic acid and porphobilinogen). It is an acute predominantly motor axonal neuropathy similar to Guillain-Barré syndrome (GBS), which usually occurs after muscle pain and weakness commonly preceded by abdominal pain and psychiatric disorders that can progress to quadriplegia and death. Alcoholism, sex, negative family history, and protein-cytologic dissociation in the patient's CSF made the diagnosis challenging.

CONCLUSION:
ENMG may be helpful in differentiating GBS from porphyric neuropathy with GBS showing absent H reflex and F waves or with prolonged latency, in contrast to the relative preservation of the H reflex and F wave in porphyric neuropathy, as well as prolonged distal latency and block. conduction block on GBS with normal latency and without conduction block on AHP. The definitive diagnosis of AIP is made with DUPBG and genetic testing, both positive in our case.

Palavras Chave

Abdominal pain, Porphobilinogen, Porphyria, Peripheral neuropathy, Guillain-Barré syndrome

Área

Neurofisiologia Clínica