Leg Muscle Involvement in Facioscapulohumeral Muscular Dystrophy: Comparison between Facioscapulohumeral Muscular Dystrophy Types 1 and 2.

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) presents with 2 genetically distinct types. We describe for the first time the MRI patterns of leg muscle involvement in type 2 and compare it with type 1. METHODS: The intramuscular fat content was assessed on lower extremity axial T1-weighted MRI scans in 6 FSHD1 and 5 FSHD2 patients. RESULTS: Overall, the muscle involvement profile did not differ substantially between FSHD1 and FSHD2. In the thigh, the dorsomedial compartment including the semimembranosus, semitendinosus and adductor magnus was the most affected. The quadriceps was mostly spared, but isolated involvement of the rectus femoris was common. Fat infiltration in the distal soleus and the medial gastrocnemius with sparing of the lateral gastrocnemius was a common finding; involvement of the tibialis anterior was less frequent. A proximal-to-distal increase in fat content was frequently present in some muscles. CONCLUSION: Muscle involvement appears to be independent of type, confirming a similar pathophysiological pathway in FSHD1 and FSHD2.

Intravascular papillary endothelial hyperplasia - a rare finding in the orbital region.

Intravascular papillary endothelial hyperplasia is a benign lesion of vascular origin. It is caused by excessive proliferation of endothelial cells in vascular malformations or normal blood vessels. We report the case of a 58-year-old woman sent to our clinic for surgery of an orbital fat prolapse at her right eye. The clinical examination showed a displacable swelling with a slightly livid aspect approximately 2 cm in diameter under the upper orbital rim. After MRI, a biopsy was carried out leading to the histological diagnosis of intravascular papillary endothelial hyperplasia. The complete excision of the remaining tumor was performed 8 weeks later. We discuss this clinical entity and the management of such lesions in the orbital region.

Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2.

BACKGROUND: Familial hemiplegic migraine (FHM) is a rare monogenic form of migraine with aura with three distinct genetic subtypes (FHM1-3). Imaging studies during acute FHM attacks are scarce in the literature. This is particularly true for the FHM2 subtype. PATIENTS AND METHODS: In this monocentric study, we retrospectively evaluated imaging data of four different patients with genetically confirmed FHM2. Analysis comprised a total of eight cMRI and two CT perfusion studies, which were obtained during a total of six different attacks. RESULTS: cMRI investigations at all available time-points were without evidence of cytotoxic edema. The most prominent finding (four attacks in three patients) was swelling and/or cortical hyperintensity of the affected cerebral hemisphere on T2/FLAIR-weighted MRI. Further changes, encountered only in a few patients, included increased perfusion of the affected hemisphere (as assessed by perfusion CT) as well as dilatation of the middle cerebral artery. CONCLUSION: Our data from a sizeable cohort of FHM2 patients highlight that swelling / cortical hyperintensity of the clinically affected cerebral hemisphere - which has been previously reported mainly in FHM1 - can be observed also in FHM2. Further, they suggest that these changes, which tend to be present not in the very beginning, but rather later on during attacks, may be a possible correlate of the prolonged attack duration in our patients.