Hamartoma

Un bersaglio quando meno te lo aspetti: la sindrome di Peutz-Jeghers

Neirotti A, Rossi L, Parola F, Scarcia S, Brach del Prever AM.

2024/1 — pag. 54-57 — DOI

Peutz-Jeghers Syndrome is a genetic condition that puts affected patients at risk of oncological degeneration and gastrointestinal complications. In most cases, abdominal pain is the acute symptom that leads the patient to the emergency room. This ma...

Quando non è un banale rigurgito

Lavagetto A, Mallamaci M

2021/7 — pag. 470-470 — DOI

The case of a one-month infant presenting with vomiting accompanied by cyanosis and fainting due to a congenital meningioangiomatosis is described. The clinical aspects and the pathogenesis of this rare condition are briefly discussed....

Amartoma ipotalamico e crisi gelastiche

M. Carrozzi, A. Skabar, C.E. Marras

2019/4 — pag. 258-260

Gelastic seizures (GS) are a rare form of epilepsy characterised by inappropriate, uncontrolled laughter. They usually originate from hypothalamic hamartomas. The paper presents a case of GS for which EEG and MR initially excluded the diagnosis made ...

Pubertà precoce da causa organica

M. Cozzolino, A. Zucchini, F. Marchetti

2019/4 — pag. 243-246

The paper describes a case of a child with rapidly progressive central puberty (PPC) secondary to hypothalamic hamartoma. Hypothalamic hamartoma is a congenital malformation diagnosed with MRI. It may be associated with PPC, gelastic seizures and m...

Amartoma ipotalamico e crisi gelastiche

M. Carrozzi, A. Skabar, C.E. Marras

2019/4 — pag. 83-85

Gelastic seizures (GS) are a rare form of epilepsy characterised by inappropriate, uncontrolled laughter. They usually originate from hypothalamic hamartomas. The paper presents a case of GS for which EEG and MR initially excluded the diagnosis made ...

Storia di nei che parlavano di intestino

I. Festa, R. Caiazzo, S. Napodano, C. Coppola, L. Sessa, E. De Nitto, P. Marzuillo, C. Strisciuglio, L. Perrone

2017/5

L’everolimus nel trattamento dell’epilessia in un bambino con sclerosi tuberosa

P. Ricciardelli, S. Pusceddu, C. Romeo, A. Zucchini, F. Marchetti

2016/9 — pag. 579-584

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder affecting cellular differentia- tion and proliferation, resulting in a variety of hamartomatous lesions that may affect virtually every organ system of the body. TSC is caused by in...

Quando la genetica ti cambia le carte in tavola

M. Pasetti, F. Crosti, S. Maitz, C. Fossati, V. D’Apolito, A. Selicorni

2016/7

Le crisi gelastiche

C. Pierobon, D. Driul, G. Crichiutti

2016/3

Questione di... tuberi

L. Matarazzo

2012/7

Dolori addominali ricorrenti da invaginazione intermittente.Un caso di sindrome di Peutz-Jeghers in una bambina di 13 anni

M. Mainetti, S. Bevilacqua, M. Vestri, A Montemaggi, C. Fancelli, M. Prato, P. Lionetti

2010/2 — pag. 125-126

Peutz-Jeghers syndrome (PJS) is a rare, though well-described, hereditary disorder characterized by mucocutaneous pigmentation and hamartomatous polyps that typically present in the second decade of life. The Authors describe a case of a 13 year-...

Dolori addominali ricorrenti da invaginazione intermittenteUn caso di sindrome di Peutz-Jeghers in una bambina di 13 anni

M. Mainetti, S. Bevilacqua, M. Vestri, A. Montemaggi, C. Fancelli, M. Prato, P. Lionetti

2010/2

Storia di una famiglia con sindrome di Peutz-Jeghers: importanza dello screening strumentale anche nei soggetti asintomatici

2003/9 — pag. 606

Report on two brothers with PJS and a positive family history. The first one symptomatic from when was 16 months; the second one asymtomatic underwent to EGDS when fifteen and after endoscopic removal of 6 polyps (the biggest >3 cm) develop emorra...

Cisti aracnoidea associata a nevo di Becker

C. De Meco, M. Crisetti, M. Germano, Mi. Jussi, P. Paolucci

1999/8

Fibrolipomatosi precalcaneale congenita:una curiosità che deve essere riconosciuta a prima vista

M. Cutrone

1999/1

Fibrolipomatosi precalcaeale congenita:una curiosità che deve essere riconosciuta a prima vista

M. Cutrone

1999/1 — pag. 13