Surgical treatment of dumbbell-shaped dermoid cyst extending into the orbit

A 16-year-old male patient presented with a 3-year history of an enlarging right upper eyelid mass. His condition did not improve, and he complained of double vision on leftward gaze. A fixed, nontender, firm subcutaneous mass was clinically noted, and magnetic resonance imaging confirmed a partially cystic tumor in the right intratemporal and pterygopalatine fossae, which extended into the orbit through the inferior orbital fissure. Mass effects of the tumor and statistical analysis allowed for easy preoperative diagnosis. The tumor was easily removed without any complications by the combined use of coronal incision and lateral orbitotomy. This approach is useful for resection of lateral orbital tumors, including dumbbell-shaped tumors extending intraorbitally.     

Cone-beam computed tomography for the diagnosis of mandibular condylar fractures: 11 case reports

The temporomandibular joint has many complex anatomical and functional features compared with other joints. Therefore, caution should be exercised in the diagnosis of temporomandibular joint fractures. Although panoramic tomography is widely used for the screening of orofacial trauma as well as other diseases, this modality often overlooks evidence of a condylar fracture. Cone-beam computed tomography is also used for diagnosing orofacial diseases. The purposes of this report are to show the usefulness of cone-beam computed tomography in diagnosing condylar fractures and to describe the imaging features of condylar fractures.     

Reconstructive considerations after resection of malignant melanoma in the head and neck

Little has been written about reconstructive methods after resection of melanomas in the head and neck region. We investigated reconstructive methods retrospectively related to the site and size of the melanomas resected by examining the medical records of 28 patients who had malignant melanomas of the head and neck resected at our hospital from 1984 to 2001. The tumour distribution was 12 in the cheek, 6 in the conjunctiva, 2 in the upper lip, 2 in the lower lip, one each in the lower eyelid, eyebrow, scalp, nose, and auricle. Reconstructive methods were 18 skin grafts, seven local flaps, and three free flaps. Three patients who had skin grafts required secondary reconstruction using free flaps. No local recurrences were observed. Reconstructions with local flaps give better aesthetical and functional results than free flaps and skin grafts. Immediate reconstruction with a flap is safe and it does not affect observation of local recurrences.     

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan

Alpha-dystroglycanopathy is caused by the glycosylation defects of α-dystroglycan (α-DG). The clinical spectrum ranges from severe congenital muscular dystrophy (CMD) to later-onset limb girdle muscular dystrophy (LGMD). Among all α-dystroglycanopathies, LGMD type 2I caused by FKRP mutations is most commonly seen in Europe but appears to be rare in Asia. We screened uncategorized 40 LGMD and 10 CMD patients by immunohistochemistry for α-DG and found 7 with reduced α-DG immunostaining. Immunoblotting with laminin overlay assay confirmed the impaired glycosylation of α-DG. Among them, five LGMD patients harbored FKRP mutations leading to the diagnosis of LGMD2I. One common mutation, c.948delC, was identified and cardiomyopathy was found to be very common in our cohort. Muscle images showed severe involvement of gluteal muscles and posterior compartment at both thigh and calf levels, which is helpful for the differential diagnosis. Due to the higher frequency of LGMD2I with cardiomyopathy in our series, the early introduction of mutation analysis of FKRP in undiagnosed Taiwanese LGMD patients is highly recommended.     

Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy

Here we report what is to our knowledge the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. The index case is a 52-year-old man with almost 40 years of progressive proximal muscle weakness. High urinary β2 microglobulin, normal serum β2 microglobulin, autophagic vacuoles with sarcolemmal features, and a hemizygous c.164–7T>G mutation in the VMA21 gene were found. His two maternal uncles had similar clinicopathological findings. High urinary β2 microglobulin without obvious renal dysfunction might result from decreased urine acidification in the distal convoluted tubules caused by the VMA21 gene mutation. These findings might prove to be useful as a preliminary marker suggestive of X-linked myopathy with excessive autophagy.