Case report

Un sabato... trascinato per i polsi

Barabino A.

2025/9 — pag. 587-589 — DOI

Sferocitosi: una famiglia... tre malattie!

Ferrara D, Giordano C, Borsellino Z, Cuccia L, Ruffo GB, Corsello G.

2024/1 — pag. 54-57 — DOI

The paper describes the cases of three siblings affected by Hereditary Spherocytosis (HS). The different clinical presentations in the same family are examples of the heterogeneity of this pathology. HS is a common inherited type of haemolytic anaemi...

Sferocitosi: una famiglia... tre malattie!

Ferrara D, Giordano C, Borsellino Z, Cuccia L, Ruffo GB, Corsello G

2024/1 — pag. 5-8 — DOI

The paper describes the cases of three siblings affected by Hereditary Spherocytosis (HS). The different clinical presentations in the same family are examples of the heterogeneity of this pathology. HS is a common inherited type of haemolytic anaemi...

Tiroidite cronica linfocitaria e carcinoma papillare della tiroide: quale relazione?

Graziani V, Rossini B, Reale G, Cozzolino M, Marchetti F, Parenti GC

2022/7 — pag. 144-147 — DOI

Papillary thyroid carcinoma (PTC) is the most common form of thyroid tumour in childhood. Different studies reported higher risk of developing a PTC in Hashimoto’s thyroiditis patients (HT) even in paediatric-adolescent age, although real incidence a...

Quando la malaria tarda a farsi riconoscere: un’infezione da Plasmodium ovale

Polenzani I, Lisco L, Cozzolino M, Casolari S, Valenti S, Fontijn S, Uva A, Marchetti F.

2022/6 — pag. 381-385 — DOI

Plasmodium ovale is a cause of non-falciparum malaria infection that is endemic in tropical Western Africa. The life cycle of Plasmodium ovale includes hypnozoites, which are dormant stages in the liver. These stages can be reactivated after weeks, m...

Gli esiti dello stroke ischemico del bambino: afasia e talamo

Giardinelli S, Bianchedi I, Uva A, Marchetti F

2022/3 — pag. 65-67 — DOI

Left thalamic stroke in adults commonly results in thalamic aphasia, which is characterized by defects in lexical and semantic abilities associated with fluency and comprehension disabilities and intact word repetition. Although few cases have been r...

Sclerosi tuberosa ed everolimus: una nuova storia

Cervesi C, Di Marzio GM, Kiren V, Cattaruzzi E, Costa P, Carrozzi M

2021/7 — pag. 443-449 — DOI

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder, due to inactivating muta-tions of TSC1 or TSC2 mTOR pathway genes and is characterized by variable multisystem manifestations ranging from hamartomas to malignant neoplasms. It f...

Quando la febbre non ha una chiara localizzazione: pensa anche alla nefrite focale acuta

Falcioni A, Troisi A, Casadio L, Chiaravalloti A, Minguzzi MT, Marchetti F

2021/3 — pag. 186-188 — DOI

Acute lobar nephronia (ALN) is a non-suppurative focal form of acute bacterial infection, generally affecting one or more renal lobules. In the spectrum of upper urinary tract infection ALN is consid-ered a midpoint between uncomplicated pyelonephrit...

Non era una colangite infettiva

M. Mainetti, F. Marchetti

2020/5 — pag. 317-318

A picture of the onset of “hepatocolangitis” especially if with dilatation of the biliary tract must necessarily make one think of primary sclerosing cholangitis (PSC). The suspicion of PSC must always make one think of concomitant chronic inflammato...

Eritema nodoso e tubercolosi: quale relazione?

C. Guadagno, M. Staccioni, V. Graziani, G. Graziani, M. Mainetti, G. Vieni, A. Zucchini, F. Marchetti

2020/1 — pag. 1-3

Erythema nodosum (EN) is a cutaneous reaction pattern characterised by erythematous tender nodules. Generally it is idiopathic, but it has also been associated with numerous diseases. In particular, the association of EN and tuberculosis (TBC) is wel...

Una celiachia con invaginazioni intestinali ricorrenti

M. Mainetti, V. Graziani, C. Radice, M. Serafini, G. Turlà, F. Marchetti

2019/6 — pag. 119-122

The paper presents the case of a 22-month-old child with an acute onset of coeliac disease and recurrent intussusception. A prevalence of around 1% of intestinal intussusception in children with a new diagnosis of coeliac disease is described in the ...

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 ...

Lussazione della rotula in età adolescenziale

R. Oliveto

2018/7

The paper describes a patellar dislocation in an adolescent female. Patellar dislocations are a frequent musculoskeletal injury assessed in the Emergency Room and represent 3% of all knee injuries. Patients under the age of 16 tend to have higher reo...

Scorbuto 2017 attraverso i casi

E. Conversano, R. Bergamaschi, G. Ingrasciotta, A. Martoni, S. Monti, M. Cattalini

2017/6 — pag. 365-370

Scurvy is an uncommon presentation of vitamin deficiency that in our century is becoming more and more common, especially in patients with cognitive disorder. Being an uncommon disease, diagnosis is often delayed and can lead to unnecessary complex...

Una crepa invisibile

A.G. Grasso, C. Radice, F. Marchetti

2017/4 — pag. 247-249

The article reports the case of a three-year-old boy that was brought to the Emergency Unit because of fever and refusal to bear weight on the right leg in the last four days. Blood exams and X-ray scan of the leg were normal without other signs or s...

Calprotectina elevata e polipi intestinali: quale relazione?

M. Mainetti, A. Zucchini, G. Turlà, A. Buzzi, F. Marchetti

2017/4

In clinical paediatric practice faecal calprotectin, a protein derived from white blood cells, is a reliable, non-invasive and easy-to-perform marker, with a high positive predictive power to identify intestinal inflammation. It is very useful for th...

Ipoglicemia chetotica e malattia celiaca: quale relazione? Descrizione di un caso clinico

M. Mainetti, V. Graziani, M. Cozzolino, F. Marchetti

2017/2 — pag. 123-124

Ketotic hypoglycaemia is the most common cause of hy-poglycaemia in preschoolers. The literature does not describe cases that have demonstrated the association between celiac disease and idiopathic ketotic hypoglycaemia. The article reports the case ...

Ipoglicemia chetotica e malattia celiaca: quale relazione? Descrizione di un caso clinico

M. Mainetti, V. Graziani, M. Cozzolino, F. Marchetti

2017/2

Ketotic hypoglycaemia is the most common cause of hy-poglycaemia in preschoolers. The literature does not describe cases that have demonstrated the association between celiac disease and idiopathic ketotic hypoglycaemia. The article reports the case ...

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...

Un problema fra capo e collo

C. Stocco, M. Bramuzzo, M. Gregori

2016/2 — pag. 123-126

Retropharyngeal abscess is a suppurative infection of deep neck spaces that rarely complicates upper respiratory infections. It most commonly occurs in children under five years of age. The clinical picture can be aspecific, especially in infants,...

Un problema fra capo e collo

C. Stocco, M. Bramuzzo, M. Gregori

2016/2

Malattia di Graves e iperplasia timica: quale relazione?

V. Graziani, A. Zucchini, F. Marchetti

2016/1

The case of a 10-year-old girl with clinical hypothyroid-ism in substitution treatment is described. After the on-set of symptoms suggestive of mediastinal mass associ-ated with evolution in hyperthyroidism, she was diag-nosed with thymic hyperplasia...

La sindrome di Guillain-Barré con parestesie e diplegia faccialeDescrizione di un caso clinico

C. Domenicali, C. Farneti, A, Magistà, F. Pugliese, S. Pusceddu, L. Casadio, A. Pini, F. Marchetti

2015/10

Acute bilateral facial nerve palsy is a relatively rare condition and often indicates a serious underlying medical condition. The paper reports a case of a 14-year-old girl who developed paresthesias in the distal limbs and subsequently bifacial weak...

La linfadenite di Kikuchi-Fujimoto

V. Graziani, V. Armaroli, L. Cardinale, F. Ravaioli, F. Marchetti

2015/6 — pag. 382-385

Kikuchi-Fujimoto disease (KF), also known as histiocytic necrotizing lymphadenitis, is a rare benign condition characterized by cervical lymphadenopathy, prolonged fever and other systemic manifestations without specific laboratory findings. The et...

Anemia sideropenica: a ragionarci sopra è sempre facile

F. Marchetti, M. Mainetti, L. Mambelli, F. Italiano, V. Domenichelli, S. Federici

2015/4 — pag. 247-251

The paper describes the case of a 14-year-old girl who presented with relapsing chronic anaemia without initial evidence of gastrointestinal bleeding after performing EGDS, colonoscopy, scintigraphy with technetium and marked red blood cell, and en...

Pleurite tubercolare: una diagnosi non sempre immediata

S. Nider, G. Gortani, A. Ventura

2014/10 — pag. 642-646

Tuberculous pleuritis usually presents as an acute illness with fever, cough and pleuritic chest pain. The pleural fluid is an exudate that usually shows predominant lymphocytes. Pleural fluid cultures are positive for Mycobacterium tuberculosis in...

Ingestione di corpo estraneo

M. Mainetti, A. Magistà, L. Biserna, C. Muratori, A. Buzzi, F. Marchetti

2014/8 — pag. 523-525

Foreign body ingestion is a common problem among paediatric populations. The paper describes the case of a 2-year-old child who had ingested a crucifix. The management of the case with respect to the characteristics of the foreign body (FB), the ex...

L’ipoglicemia da iperinsulinismo: la diagnosi, le cause, la gestione

F. Marchetti, V. Graziani, M. Cappella, G. Vieni, C. Muratori, T. Tosi, M. La Bianca, F. Faletra

2014/5 — pag. 309-314

The paper describes the case of a 3-month-old girl with seizures due to persistent nonketotic hypoglicaemia with moderate iperammoniaemia. Once tyrosinemia, urea cycle disorders, deficit of fatty-acids-beta-oxidation and other organic acidurias had...

Celiachia e stipsi ostinata: descrizione di un caso clinico

A. Micheli, V. Canocchi, M. Carlini, C. Ciacci, F. Macucci, D. Pecchi, F. Civitelli, I. Giani

2014/5

Coeliac disease (CD) may have a variety of differential gastrointestinal or not gastrointestinal presentation. Constipation is a common paediatric gastrointestinal symptom; most of the cases in children are due to functional gastrointestinal disorder...

Propranololo ed emangiomi

I. Berti, M. Pavan, G. Paloni, C. Bibalo, F. Marchetti, A. Ventura

2013/10 — pag. 651-657

Infantile Haemangiomas (IE) are common benign tumours, affecting around 10% of the new borns. Natural history goes towards a spontaneous regression in most cases, although in long times (years) and sometimes with some imperfect outcome. Propranolol...

Ingestione di magneti

E. Valletta, M. Fornaro, E. Cavargini, F. Destro, M. Lima

2013/8 — pag. 514-518

The article reports the case of an 11-year-old boy who presented with abdominal symptoms following the ingestion of three magnets. The history, the radiologic and endoscopic pictures gave the opportunity for some considerations about the peculiarit...

Un’appendicite di troppo

E. Zanelli, S. Crocco

2013/6 — pag. 395-397

Stump appendicitis is the re-inflammation of the residual appendiceal tissue after an appendectomy. It is a rare and unknown complication of appendectomy. Clinical features of stump appendicitis do not differ from acute appendicitis, even though th...

Un’appendicite di troppo

E. Zanelli, S. Crocco

2013/6

Stump appendicitis is the re-inflammation of the residual appendiceal tissue after an appendectomy. It is a rare and unknown complication of appendectomy. Clinical features of stump appendicitis do not differ from acute appendicitis, even though th...

Pubarca precoce, irsutismo, amenorrea e bassa statura: quale diagnosi?

A. Zucchini, F. Marchetti

2013/1 — pag. 35-38

Non-classical congenital adrenal hyperplasia (NCCAH) is an autosomal recessive disease that appears during childhood with hyperandrogenic symptoms. The article reports a case of NCCAH due to 21-hydroxylase deficiency in a 14-year-old girl with prem...

Fegato grosso e grasso: poche diagnosi a cui pensare

M. Mainetti, M. Grassi, A. Zucchini, L. Mambelli, F. Dal Monte, D. Cassandrini, G. Maggiore, F. Marchetti

2012/8 — pag. 533-534

The case of an 8-year-old girl with an isolated hypertransaminasemia asymptomatic without cholestasis and with moderate hypercholesterolemia and hepatomegaly with steatosis and glycogen storage in biopsy is described. Once excluded the commonest ...

Fegato grosso e grasso: poche diagnosi a cui pensare

M. Mainetti, M. Grassi, A. Zucchini, L. Mambelli, F. Dal Monte, D. Cassandrini, G. Maggiore, F. Marchetti

2012/8

The case of an 8-year-old girl with an isolated hypertransaminasemia asymptomatic without cholestasis and with moderate hypercholesterolemia and hepatomegaly with steatosis and glycogen storage in biopsy is described. Once excluded the commonest ...

"Il cuore non si conta"Tachicardia parossistica sopraventricolare in un neonato

M. Mainetti, G. Piccinini, C. Renzelli, F. Marchetti, G. Bronzetti

2012/6

The case of a 12-day-old boy with supraventricular tachycardia (SVT) is reported. SVT in newborns is a relatively rare disease with only a few cases per year at each perinatal centre. The acute treatment of a single episode of SVT has generally a...

Un caso di emofilia acquisita

A. De Cunto, P. Pasquinelli, C. Biasioli, V. Agostini, M. Pocecco

2011/6

The case of a boy who presented with an isolated gross haematuria is reported. In the previous days he referred a muscular haematoma after a minimal trauma. Coagulation studies showed a prolonged activated partial thromboplastin time (90 sec), not co...

Atelettasia ed enfisema lobari:due storie con due immagini a confronto

A. De Cunto, C. Zanchi, M. Gregori, G. Pelos, J. Schleef, F. Marchetti

2010/7 — pag. 446-451

The work compares the cases of two children of the same age (14-15 months) who raise the similar suspect of inhalation of foreign bodies. In the first case the hypothesis was suggested by the radiologic finding of atelectasis. In the second case th...

Lo stroke in età pediatrica

E. Franzoni, G.G. Salerno, V. Valenti, C. Garone, I. Cecconi, D.M. Cordelli, V. Marchiani

2009/9 — pag. 566-571

According to the definition given by WHO, stroke is a clinical syndrome characterized by rapid appearance of a focal neurologic deficit lasting more than 24 hours and determined by arterial or venous occlusion or rupture. The incidence of stroke is...

L’importanza dell’ecografia addominale nella diagnosi di invaginazione intestinale

M. Bonelli

2009/8 — pag. 531-532

The present work describes the case of a 4-year-old girl who presented with a final ecographic diagnosis of intussusception. The insidious clinical onset of this pathology and the sonographic signs of reducibility are underlined....

Una diagnosi al telefono

M.G. Scala, M. Mayer

2009/8 — pag. 531-532

We report the case of a 3-year-old male who presented, during viral gastroenteritis epidemic peak, with vomiting and abdominal pain. He had no fever or diarrhoea. His mother told us that her son was lethargic and he had abdominal pain crises. We ...

L’importanza dei case report in farmacovigilanza

M. Venegoni

2009/8 — pag. 501-507

The publication of case reports is one of the useful didactic instrument to disseminate the knowledge on many or very rare adverse reactions that physicians must know whenever they make prescriptions. Moreover, the activity of pharmacovigilance and...

Una diagnosi al telefono

M.G. Scala, M. Mayer

2009/8

Una plica cutanea sospetta... il primo passo verso la diagnosi di sindrome di Klippel-Trenaunay

S. Esposito, P. Ercolini, T. Montini, G. Rasca

2009/2

Il pediatra e la resistenza agli steroidi nella colite ulcerosaDalla clinica alle basi molecolari: riconoscerla e trattarla

N. Giurici, S. Crocco, E. Barbi

2007/8

Trombocitosi grave e anemia sideropenica: un caso clinico

E. Miorin, F. Colonna

2003/4