Brain Disorders (Jun 2024)
Variegate porphyria onset as neurovisceral manifestation and unusual sensory impairment distribution. Case report
Abstract
Background: Acute hepatic porphyrias are heme metabolism disorders presenting with a broad clinical spectrum, including neurovisceral manifestations. Peripheral neuropathy is one of the most frequent complications in porphyrias and can correspond about 40 % of the neurovisceral manifestations, and it is mainly attributed to the ALA and PBG accumulation neurotoxicity. The hallmark of an acute porphyric attack is an acute motor axonal neuropathy accompanied by autonomic dysfunction. Sensory impairment is infrequent, and when present, it is classically described as the stocking-glove pattern or, more rarely, a “bathing suit” proximal distribution pattern. Objective: To report a variegate porphyria case in a young patient with unusual sensory manifestations. Methods: A 27-year-old man, previously healthy, present in context of possible arbovirus infeccion with severe abdominal pain, followed by dysautonomia due to orthostatic hypotension, change in urine color and, the emergence of sensory impairment in the trunk and proximal region of the four limbs about twenty days from onset. Dysestesia was severe and marked. Results: Positive clinical features and a urinary exposure test to sunlight corroborate in request genetic testing for acute hepatic porphyrias, with a positive mutation of the PPOX gene in heterozygosis. Discussion: Clinical manifestations with initial presentation of severe dysautonomia followed by sensory changes demarcate neurovisceral involvement of variegate porphyria, adopting an ''old-bathing-suit costume'' sensory pattern throughout its evolution.
