Novembre 2006 - Volume XXV - numero 9
Pagine elettroniche ; Caso Contributivo
1Pediatra di famiglia, Milano;
2Divisione di Oncologia Pediatrica, Istituto Nazionale dei Tumori, Milano
Indirizzo per corrispondenza: emanuela.ballerini@crs.lombardia.it
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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Pagine elettroniche ; Caso Contributivo
Divisione di Ematologia, Dipartimento di Scienze Pediatriche e dell’Adolescenza, Università di Torino, Ospedale Infantile Regina Margherita.
Indirizzo per corrispondenza: paola.quarello@unito.it
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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