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Biomedical subjects

G Beluffi

Publications and source records attributed to G Beluffi.

122 records · Page 7Linked to original sources

Chronic idiopathic hyperphosphatasia and fibrous dysplasia in the same child.

A generalized skeletal dysplasia with features of chronic idiopathic hyperphosphatasia and fibrous dysplasia of the mandible were observed in a 6-year-old child. The abnormal development of the bones resulted from enhanced remodeling and the failure of mature bone to form. The occurrence of the two lesions in the same child and a review of the literature support the hypothesis that pathogenesis of fibrous dysplasia and idiopathic hyperphosphatasia reflect an underlying common defect in the control of bone cell activity.

Diagnosis, Differential↗

Rhabdomyosarcoma with primary osteolytic lesions simulating non-Hodgkin's lymphoma.

We report the case of an 8-year-old child presenting with the pathological fracture of two vertebral bodies due to bone lytic lesions. Physical and instrumental examinations did not show any further evidence of disease. However, bone marrow aspirate showed an infiltrate of poorly differentiated cells. When the child was transferred to the Department of Pediatrics, lymphoblastic leukemia was suspected. Although the morphology of the bone marrow biopsy could have suggested a lymphoblastic lymphoma, further immunochemical and immunological studies together with the study of tissue surface antigens resulted in a diagnosis of embryonal rhabdomyosarcoma with an unusual presentation.

Antigens, Differentiation↗

MR of the hypothalamic-pituitary axis in Langerhans cell histiocytosis.

PURPOSE: To describe the MR findings in the hypothalamic pituitary area in children with Langerhans cell histiocytosis and to define those MR alterations especially associated with the risk of developing diabetes insipidus. METHODS: The hypothalamic-neurohypophyseal axis was studied by sagittal and coronal 1.5 T1-weighted MR imaging in 14 children with Langerhans cell histiocytosis (five with diabetes insipidus) and in 28 low-stature controls, ages 6-14 years. RESULTS: The pituitary stalk was thicker in seven/14 patients (three with diabetes insipidus) than in controls (P less than .05). Bright posterior pituitary signal was undetectable in children with diabetes insipidus and in one/9 without diabetes insipidus. CONCLUSIONS: Thickening of the hypothalamus and/or the pituitary stalk in the absence of the posterior pituitary bright signal is seen in children with Langerhans cell histiocytosis with overt diabetes insipidus. Those Langerhans cell histiocytosis patients without diabetes insipidus but showing thickened stalk with or without posterior pituitary bright signal could be at high risk to develop diabetes insipidus.

Adolescent↗