1 - Serviço de Neurorradiologia, Hospital Dona Estefânia e São José, Centro Hospitalar Universitário de Lisboa Central, Lisboa
2 - Unidade de Reumatologia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
- Publicação sob a forma d eposter electrónico - XVI Congresso da SPNR Diagnóstica e Terapêutica, 19 e 20 novembro 2021, Lisboa
- Neuroradiology volume 64, pages1047–1076 (2022); doi.org/10.1007/s00234-022-02903-2
Introduction: Parry-Romberg syndrome (PRS), also known as progressive hemifacial atrophy, is a rare disorder characterized by insidious atrophy of the skin and subcutaneous tissue that may develop to affect the underlying musculature and bone structures, with or without neurologic involvement. Typically presents in children and young adults and may slowly progress over a variable period. Precise etiology remains uncertain, but it shares many clinical and imaging features with linear scleroderma en coup de sabre (LScs), making both entities commonly discussed as related autoimmune conditions.
Cases: We searched our hospital database for patients diagnosed with PRS/LScs and reviewed their clinical data and MR images. Then, we selected cases to illustrate a variety of intracranial imaging features, in addition to typical facial or scalp findings, including subtle T2 white matter hyperintensities, hemispheric brain atrophy, and vascular abnormalities (such as innumerable unilateral microhemorrhages and a case of stroke attributable to the diagnosis of scleroderma because other etiologies were excluded).
Discussion & Conclusion: Despite the characteristic facial morphological changes that often suggest the diagnosis, these may be minor or even undetectable in the early phase. Moreover, only a minority of patients develop neurological or ophthalmological symptoms with disease progression. Due to its rarity and variable presentation, certain MR imaging findings must be considered to raise diagnostic suspicion of PRS/LScs. Extracranial assessment is essential to primarily determine the involvement of the skin, and eventually deeper structures. Intracranially, several findings have been reported in PRS/LScs, usually ipsilateral to the affected hemiface, and include white matter signal abnormalities and microhemorrhages, as shown. Even in the absence of cutaneous lesions or facial asymmetry, PRS/LScs must be included in the differential diagnostic considerations when there is evidence of these unilateral multifocal MRI signal changes, which can sometimes be clinically occult.
Palavras Chave: Brain; MRI; Parry-Romberg syndrome; scleroderma en coup de sabre;