RESUMO
Langerhans cell histiocytosis can cause central diabetes insipidus. Here, a case of Langerhans cell histiocytosis invading the pituitary stalk was experienced. The patient was 15 years old boy, with complaint of polydipsia and polyuria. A water deprivation test was carried out, and the urine osmolarity was increased from 165 to 469 mosm/kg following an injection of AVP to confirm the diagnosis of central diabetes insipidus. A pituitary function stimulation test gave a normal response. A sellar MRI was performed, which showed a thickened pituitary stalk mass (about 5.7mm), with an increased size, 6.9 mm, on a second MRI 2 month later. A tissue biopsy was performed, which showed aggregates of histiocytes and inflammatory cells, with prominent eosinophils (H&E), and also revealed strong reactivity to anti-CD1a antibody on the immunohistochemistry. After confirmative tissue diagnosis, the patient received radiotherapy (900 cGy). The thickened mass of the pituitary stalk disappeared on the MRI following the radiotherapy. The patient was managed with DDAVP nasal spray, after which the polyuric symptoms were completely relieved.
Assuntos
Adolescente , Humanos , Masculino , Biópsia , Desamino Arginina Vasopressina , Diabetes Insípido Neurogênico , Diagnóstico , Eosinófilos , Histiócitos , Histiocitose de Células de Langerhans , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Concentração Osmolar , Hipófise , Polidipsia , Poliúria , Radioterapia , Privação de ÁguaRESUMO
Deletion of the long arm of chromosome 16 is uncommon. The causes of deletion are two: one is unbalanced translocation and the other is de novo deletion. In our case, a baby was born with characteristics of the deletion of the long arm of chromosome 16: distinct craniofacial dysmorphism, mild hydrocephalus, ventriculoseptal defect, coarctation of aorta, short neck, low set, small and posterially rotated ears and shortening of long bones. High resolution GTG and RBG banding analyses revealed a karyotype: 46, XY, del(16)(q13q22) de novo.
Assuntos
Coartação Aórtica , Braço , Cromossomos Humanos Par 16 , Orelha , Hidrocefalia , Cariótipo , PescoçoRESUMO
A case of metastatic malignant melanoma of ovary with malignant melanoma of skin is rare. The tumor was discovered 17months following excisional biopsy of left hand for malignant melanoma of the skin. Primary ovarian malignant melanomas are extremely rare and are thought to originate in teratomas. Ovarian melanoma without evidence of residual teratoma must be considered metastatic even in the absence of a previously identifiable cutaneous or mucocutaneous lesion. We had experienced a case of metastatic malignant melanoma of ovary and presented with a brief review of literature.