Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

OBJECTIVE: To describe the clinical phenotype of an autosomal-dominant pedigree with myotilinopathy. METHODS: Two symptomatic patients and six asymptomatic gene mutation carriers were examined. We performed serum chemistry, electrophysiological assessments, magnetic resonance imaging (MRI) of lower limb musculature, histochemical and immunohistochemical studies of a muscle biopsy and mutation analysis of the myotilin gene. RESULTS: Both symptomatic patients, aged 76 and 61 years, presented with late-onset, distal lower-limb weakness involving the ankle and toe flexo-extensor muscles extending up to the thigh muscles; there was mild weakness of the intrinsic hand musculature in the eldest patient. Electromyography revealed a myopathic pattern. Serum creatine kinase levels were slightly elevated. Muscle biopsy revealed myopathic changes with myotilin- and desmin-positive aggregates. Gene sequencing identified a myotilin S55F mutation. In both patients, MRI showed moderate to severe fatty atrophy of all four leg muscle compartments, extending up to the thigh musculature, mainly involving the biceps, femoris, semimembranosus, vasti and glutei muscles; intrinsic foot musculature was involved but to a lesser degree. In all six gene mutation carriers, aged from 21 to 63 years, clinical examinations showed no myopathic signs. MRI was normal in the youngest individual, whereas in the remaining five individuals the outstanding finding was fatty infiltration of the soleus muscles. CONCLUSIONS: Myotilin S55F mutations may cause a clinically distinct autosomal-dominant late-onset and lower-limb distal myopathic syndrome involving all four leg muscle compartments. MRI helps to reliably depict the topography of fatty muscle atrophy and to detect early leg muscle changes in asymptomatic gene mutation carriers.

Subcutaneous angioleiomyomas: gray-scale and color Doppler sonographic appearances.

PURPOSE: To describe the gray-scale Doppler and sonographic features of a series of subcutaneous angioleiomyomas. METHODS: The sonographic appearances of 10 pathologically proven angioleiomyomas were retrospectively reviewed; 4 in women and 6 in men, with an age range from 33 to 77 years. We evaluated size, shape, echo pattern, margins, location, relationships with adjacent structures, and vascularity. Examinations were performed using a multifrequency linear array transducer (9-11 MHz) connected to a Logiq 500 scanner (GE, Milwaukee, Wl). RESULTS: All tumors were subcutaneous and located in the extremities (7 in the lower extremities, 3 in the upper extremities). The sizes ranged from 0.6 to 6.4 cm, with an average size of 2 cm. All of the lesions were hypoechoic with well-defined margins, and 9 were oval. Intratumoral calcifications were observed in two patients. Vascularity was easily detected in all of them, and 4 tumors had a clear vascular pedicle. The spectral Doppler analysis performed in 5 cases, revealing a low-resistance arterial waveform in 4 patients. CONCLUSIONS: Although angioleiomyomas are uncommon soft tissue tumors, the presence of a well-defined, hypoechoic, vascular subcutaneous tumor in the extremities should raise the possibility of such a diagnosis.

Soft tissue Burkitt's lymphoma: radiological findings.

An unusual case is reported of a soft tissue mass in the lower extremity, without bone involvement, in an 85-year-old woman; the histopathological diagnosis was Burkitt's lymphoma. Pertinent clinical history, histological examination, and imaging procedures allowed early diagnosis. To our knowledge, the radiological findings in Burkitt's lymphoma with this unusual clinical presentation have not been described previously.