Novembre 2006 - Volume XXV - numero 9

Medico e Bambino


Pagine elettroniche ; Caso Contributivo

Ipertrofia clitoridea in bambina affetta da neurofibromatosi di tipo 1

E. Ballerini1, R. Luksch2

1Pediatra di famiglia, Milano;
2Divisione di Oncologia Pediatrica, Istituto Nazionale dei Tumori, Milano

Indirizzo per corrispondenza: emanuela.ballerini@crs.lombardia.it

HYPERTROPHY OF THE CLITORIS IN A FEMALE WITH NEUROFIBROMATOSIS 1

Key words: Neurofibromatosis 1 (NF1), Hypertrophy of the clitoris, Plexiform neurofibroma

We report the case of NF1 in a 21 month old female, who presented with hypertrophy of the clitoris. The work-up evaluations revealed the presence of multiple pelvic and abdominal neurofibromas and concomitant histologically assessed presacral ganglioneuroma. Despide of multiple treatments, including chemotherapy, radiotherapy and antiangiogenic drug, the neurofibromas were in slow but continuous numerical and volumetric progression. NF1 is the most frequent syndrome at dominant autosomical transmission at variable penetrance, with a wide spectrum of clinical presentations varying from absent or mild symptoms, to severe disability.

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E. Ballerini, R. Luksch Ipertrofia clitoridea in bambina affetta da neurofibromatosi di tipo 1. Medico e Bambino 2006;25(9):601-602 https://www.medicoebambino.com/?id=0609_601.pdf

Pagine elettroniche ; Caso Contributivo

Diagnosi di malattia di Rendu-Osler-Weber in bambina con cianosi e teleangectasie cutanee

P. Quarello, E. Parodi, D. Renga, L. Farinasso, P. Saracco

Divisione di Ematologia, Dipartimento di Scienze Pediatriche e dell’Adolescenza, Università di Torino, Ospedale Infantile Regina Margherita.

Indirizzo per corrispondenza: paola.quarello@unito.it

DIAGNOSIS OF RENDU-OSLER-WEBER SYNDROME IN A CHILD WITH CYANOSIS AND MUCO-CUTANEOUS TELANGIECTASIAS

Key words: Hereditary Hemorrhagic Telangiectasia, Cyanosis, Arteriovenous malformations

We report the case of an 9 years old child with cyanosis and clubbing. Her mother was affected by Hereditary Hemorrhagic Telangiectasia (HHT) with muco-cutaneous telangiectasias and epistaxis. Decreased level of oxygen in arterial blood was detected and CT scan showed a pulmonary arteriovenous malformation (AVM). The young patient underwent transcatheter embolization with good results. Diagnosis of HHT was done on the basis of HHT diagnostic criteria. Clinical features, diagnostic approaches and therapeutic strategies during the pediatric age are discussed.

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P. Quarello, E. Parodi, D. Renga, L. Farinasso, P. Saracco Diagnosi di malattia di Rendu-Osler-Weber in bambina con cianosi e teleangectasie cutanee. Medico e Bambino 2006;25(9):601-602 https://www.medicoebambino.com/?id=0609_601.pdf


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