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Progressive facial hemiatrophy: MRI appearances
H M Taylor1, R Robinson, T Cox
1Senior Registrar in Diagnostic Radiology, Guy's Hospital, London, UK.
Abstract:
The cranial CT and MRI appearances of a 14-year-old girl with Parry-Romberg syndrome and epilepsy are described. The findings are compared with the two published descriptions of MRI and CT in such patients. MRI appearances in our patient differ from those published and may be consistent with a vascular malformation. The one published report on the intracranial histopathology of a patient with Parry-Romberg syndrome and epilepsy states that a microscopic vascular malformation was found. We discuss the relationship between radiological and pathological findings. The possible aetiologies of Parry-Romberg syndrome (vascular malformation, immunological, trauma, sympathetic innervation, hereditary, slow virus) are discussed. We suggest that Parry-Romberg syndrome could be regarded as a neurocutaneous syndrome, a component of which includes intracerebral vascular dysplasia. In this and the other three cases of Parry-Romberg syndrome with epilepsy, the sensitivity of MRI in detecting intracranial lesions is demonstrated. Recommendations for imaging these patients are proposed.
Insights
Parry-Romberg syndrome with epilepsy shows unique MRI findings potentially linked to vascular malformations. This study highlights MRI
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Parry-Romberg syndrome (PRS) is a rare disorder characterized by progressive hemifacial atrophy.
- Epilepsy is a common comorbidity in PRS, necessitating detailed neuroimaging.
Observation:
- Cranial CT and MRI of a 14-year-old girl with PRS and epilepsy were analyzed.
- Observed MRI findings differed from previously reported cases, suggesting a potential vascular etiology.
Findings:
- Intracranial histopathology in a similar case revealed microscopic vascular malformations.
- This study supports PRS as a neurocutaneous syndrome involving intracerebral vascular dysplasia.
- MRI demonstrated high sensitivity in detecting intracranial lesions in PRS patients with epilepsy.
Implications:
- The findings suggest a possible link between PRS, epilepsy, and underlying vascular abnormalities.
- Recommendations for neuroimaging protocols in PRS patients are proposed.
- Further research into the pathogenesis of PRS and its neurovascular manifestations is warranted.