An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.

Muscle-eye-brain disease (MEB) is characterised by congenital muscular dystrophy, structural brain malformations and eye abnormalities. We report a MEB case whose presenting sign was congenital blindness. She was investigated primarily for eye abnormalities at onset. She had bilateral retinal detachment and microphthalmia. Mild axial hypotonia and motor retardation were attributed to cerebral disorder in another center. Muscle biopsy showed mild myopathic changes and significant alpha-dystroglycan deficiency. Analysis of the POMGnT1 showed a novel homozygous mutation 1814G>C, causing p.Arg605Pro change. This case expands the clinical spectrum of MEB with unusually severe eye abnormalities compared to mild skeletal muscle and brain involvement.

Late relapsing Wilms tumor with rhabdomyomatous differentiation.

The authors report a patient with abdominally relapsed Wilms tumor with rhabdomyomatous differentiation leading to renal failure and death 9 years after the initial diagnosis. The patient was treated with intensive chemotherapy because of inoperable tumor but no response was obtained. The prognosis of children with Wilms tumor relapsed in abdomen and in previously irradiated fields is poor and intensive chemotherapy protocols for differentiated tumors after chemotherapy will increase the risk of complications without obvious benefit.

[Case report: Complex composite odontoma: Plain radiography and computed tomography findings]. / Kompleks kompozit odontoma: düz radyografi ve BT bulgulari.

Complex composite odontoma is a rare benign odontogenic hamartoma seen in association with a primary tooth. Although it is seen most frequently between 10-19 years of age, here we present a lesion of unusual size in the mandible of a 6-year-old boy and report its clinical, radiographic, CT and histologic findings. Also, we discuss the value of three dimensional images.

Solitary Plasmacytoma of Tibia in a 29-Year-Old Woman.

Solitary plasmacytoma of the bone is a plasma cell tumor characterized by a single bone lesion with no evidence of myeloma elsewhere, including fewer than 5% plasma cells in the bone marrow. Although median age is about 14 years younger than that of patients with multiple myeloma, both diseases are extremely uncommon under 30 years of age. Solitary plasmacytoma of bone seem to have a prediction to occur in the axial skeleton, particularly in a vertebra and long bones are rarely affected. Herein, we report a case of solitary plasmacytoma of bone involving the tibia in a 29-year-old woman.

Conservative treatment for small intestinal intussusception associated with Henoch-Schönlein's purpura.

PURPOSE: Emergency laparotomy is generally considered the appropriate course of action for small bowel intussusception associated with Henoch-Schönlein's purpura (HSP). In this paper, we define a conservative approach after witnessing spontaneous reduction of ileoileal invagination at laparotomy in a patient with HSP who had been on steroid therapy for renal involvement. METHODS: HSP was diagnosed by the appearance of a purpuric rash without thrombocytopenia. Intussusception was diagnosed by ultrasonography (USG) and plain abdominographs, which showed signs of obstruction, and clinical examination. Barium enema was used to treat ileocolic intussusceptions, and conservative therapy, consisting of nasogastric drainage, steroids, and intravenous fluid administration, was used to treat ileoileal intussusceptions. Emergency laparotomy was performed for the patients unresponsive to therapy within 24 h, those with peritonitis, and those with ileocolic invagination not able to be reduced by barium enema. RESULTS: Six children with an ileoileal intussusception and one with an ileocecal intussusception were studied. The average age was 6 years old. Apart from the initial patient in whom spontaneous reduction was seen at laparotomy, three others required emergency laparotomy; for ileocolic intussusception unable to be reduced by barium enema in one, for ileoileal invagination with peritonitis on admission in one, and for ileoileal intussusception unresponsive to conservative therapy in one. The other three patients were successfully treated by conservative therapy. CONCLUSION: Conservative therapy is feasible for HSP patients with small bowel intussusception as long as the time of onset is known, an ultrasonographic and X-ray diagnosis is confirmed, emergency operating facilities are available, and an experienced pediatric surgical team follows up the patients.