Late-onset Parry-Romberg Syndrome with Atypical Neurological Manifestations: A Case Report
Sema Akkus1, Suban Amatya2, Kriti Shrestha2, Shitiz Sriwastava3, Demetrios Karides4
1Istanbul University Cerrahpasa Medical Faculty, 2Medicine, Patan Academy of Health Sciences, 3UT Health Houston, 4Neurology, Mount Sinai Health System
Objective:
To present a unique case of late-onset Parry-Romberg Syndrome with atypical neurological manifestations in order to expand the understanding of epidemiology, clinical presentation, diagnostic approach, and therapeutic limitations in managing this rare disorder.
Background:
Parry-Romberg Syndrome (PRS) is a rare neurocutaneous disorder characterized by slowly progressive hemifacial atrophy, typically with onset in the first or second decade of life. The exact pathogenesis remains unclear, but proposed mechanisms include autoimmune-mediated tissue damage, vascular abnormalities, and neural dysfunction. PRS can have central nervous system involvement, with neuroimaging sometimes revealing ipsilateral brain lesions. However, PRS onset in late adulthood and atypical neurological manifestations are uncommon.
Design/Methods:
A case report of a 64-year-old woman with late-onset PRS. Clinical history, examination findings, diagnostic evaluations with neuroimaging and electrophysiology, treatment options, and outcomes were analyzed. Relevant literature was reviewed.
Results:
This 64-year-old female patient with late-onset PRS exhibited an unusual constellation of neurological symptoms including leg numbness, hyperreflexia, trigeminal neuralgia, and severe headaches. Extensive diagnostic workup with neuroimaging and electrophysiology uncovered chronic left cerebral hemisphere abnormalities including infarctions, microhemorrhages, volume loss, and peripheral sciatic nerve injury. These investigations characterized the central and peripheral neurological effects of her PRS. Symptomatic treatment was provided as no definitive therapy currently exists. Her atypical manifestations of leg numbness and hyperreflexia along with late disease onset in her seventh decade expand the known PRS clinical spectrum and diagnostic considerations.
Conclusions:
This report provides insights into late-onset PRS, expands the known clinical spectrum, demonstrates a thorough diagnostic approach, and reveals current therapeutic limitations. It highlights the need for interdisciplinary collaboration and further research into the pathogenesis, atypical manifestations, and novel treatments for this rare and poorly understood disorder.