Delayed Diagnosis

Una diagnosi di malattia di Hirschprung a 14 anni

Trombetta A

2025/10 — pag. 269-270 — DOI

The paper presents the case of a 14-year-old boy with severe microcytic anaemia and lifelong constipation, with imaging showing massive faecal impaction and rectosigmoid dilatation. Poor response to transfusion and iron therapy, together with marked ...

Un’epifisiolisi misconosciuta

Ranieri M, Discepolo V, Alessio M, Russo M.

2025/7 — pag. 468-470 — DOI

A 15-year-and-7-month-old boy with obesity and delayed pubertal development presents with pain and stiffness in his left hip and knee, to the point of being unable to walk. The symptoms, which began some months earlier as mild knee pain, worsened wit...

"Che cosa può celarsi dietro un'anemia...": un caso di atresia duodenale a esordio tardivo

Allegra M, Dolce R, Bignone L, Raso E, Caruso A, Giglione E, Putignano L, Alizzi C, Cardella F, Corsello G

2025/5 — pag. 103-106 — DOI

Duodenal atresia (AD) is a congenital malformation characterised by complete or incomplete intrinsic obstruction of the duodenum. Prenatal diagnosis is often possible. Type 1 AD, according to the Gray-Skandalakis classification, consists of transvers...

Mal di testa? Non pensare all’oculista

Campone C, Negro I, Vandone M

2023/6 — pag. 104-104 — DOI

The paper describes the case of a 3-year-old girl presenting with worsening and severe headache initially attributed to astigmatism that was finally diagnosed as cerebellar pilocytic astrocytoma....

Febbre e gengivostomatite: non è sempre solo herpes simplex

Arnaboldi S.

2023/5 — pag. 331-334 — DOI

Gingivostomatitis is a clinical condition frequently diagnosed by the family paediatrician and it generally shows a viral aetiology. In particular, primary herpes simplex infection is the most frequent cause of gingivostomatitis in toddlers and it ty...

Dolore a denti stretti

Grazian F.

2023/5 — pag. 326-328 — DOI

The case of a 3-year-and-8-month-old boy affected by autism spectrum disorder with an unrecognized dental abscess is described....

Vasculiti facili e difficili: cosa deve sapere e saper fare un pediatra

De Nardi L, Petrone MI, Benvenuto S, Natoli V, Abu-Rumeileh S, Castaldo B, De Benedetti F.

2023/5 — pag. 286-298 — DOI

Vasculitis is defined by a state of inflammation of the blood vessel walls. It can result in formation of either aneurysms or stenosis with ischemia and necrosis. The heterogeneity of clinical presentation depends on the type and size of the vessels ...

Una polmonite a risoluzione troppo lenta

Pecile P.

2023/4 — pag. 261-263 — DOI

The case of a 5-month-old infant initially misdiagnosed as slow-resolving pneumonia is described. The diagnosis of tubercular pneumonia was finally made....

Una polmonite a risoluzione troppo lenta

Pecile P

2023/4 — pag. 70-70 — DOI

The case of a 5-month-old infant initially misdiagnosed as slow-resolving pneumonia is described. The diagnosis of tubercular pneumonia was finally made....

Se il polso non ti colpisce, controlla l’arco

Zago A, D’Agata Mottolese B

2022/6 — pag. 133-133 — DOI

The case of a boy affected by aortic coarctation who remained undiagnosed up to the age of 12 is described. The authors remark the clinical heterogeneity of the aortic coartaction and stress some diagnostic recommendations....

Malattia di Behçet: una sfida per il pediatra

Levantino L, Pastore S, Corona F, Lepore L, Tommasini L.

2022/5 — pag. 289-297 — DOI

Behçet’s disease (BD) is a rare chronic inflammatory condition associated with variable-vessel vasculitis, systemic involvement and relapsing course. It is characterized by a wide clinical heterogeneity, presenting with mucocutaneous, ocular, articul...

Traiettorie evolutive: una lezione dall’ADHD

Narducci C

2021/5 — pag. 321-324 — DOI

A 12-year-old girl was urgently sent by her paediatrician to the Child and Adolescent Neuropsychi-atry ward for behavioural disorders and suicide threat. At the time of the visit the suicide risk was low. Nevertheless, considering a possible underlyi...

IperCKemia asintomatica: la malattia di Pompe late-onset

Borelli E, Casciana ML, Salemi C, Sordelli S, Fasoli S

2021/4 — pag. 105-108 — DOI

The paper reports the case of a 7-year-old boy who presented with elevated alanine and aspartate transaminases. Further investigations demonstrated elevated creatine kinase (CK), so an underlying metabolic disorder was investigated even in absence of...

Alla conquista della sindrome di West

S. Rosati, S. Di Marco, M. Valiani, A. Bonuccelli, D. Peroni

2020/10 — pag. 260-260 — DOI

The paper presents the cases of two infants affected by the so-called West syndrome. Despite a classical clinical presentation in one of the two cases, the diagnosis was delayed because of a previous erroneous diagnosis of gastroesophageal reflux dis...

Gli effetti avversi del Covid-19 in età pediatrica: la pandemia secondaria

F. Marchetti

2020/6 — pag. 115-117 — DOI

The Covid-19 pandemic has been shown to be much milder as to its clinical manifestations in infants and children than in adults. However, because of their isolation, children are having documented risks that we are getting used to calling Covid-19 si...

Danni collaterali

E. Barbi, A. Apicella

2020/4 — pag. 210-212

Sindrome di Guillain-Barré: dolore e pregiudizio

P. Pecile

2020/3 — pag. 185-187

La narcolessia è una malattia pediatrica: le red flags per riconoscerla

E. Antelmi, L. Vignatelli, I. Ceretelli, et al.

2020/1 — pag. 29-34

Rationale - Narcolepsy is a chronic rare disease that frequently develops in children. It is characterised by excessive daily sleepiness, cataplexy, sleep paralysis, hypnagogic and hypnopompic hallucinations as well as disturbed nocturnal sleep. More...

Un asma persistente… troppo persistente

G. Vergine, F. Venturelli, M. Poloni, B. Filippini, E. Fabbri, P. Gasperini, V. Corazzi, M. Valli, F. Muratore, R. Pericoli

2019/3 — pag. 193-195

Primary lung tumours in children are very rare, but bronchial carcinoid tumours comprise 50-80% of the malignant pulmonary neoplasms diagnosed in children and young adults. Most patients with bronchial carcinoid tumours present with wheezing, cough a...

Un asma persistente… troppo persistente

G. Vergine, F. Venturelli, M. Poloni, B. Filippini, E. Fabbri, P. Gasperini, V. Corazzi, M. Valli, F. Muratore, R. Pericoli

2019/3 — pag. 36-40

Primary lung tumours in children are very rare, but bronchial carcinoid tumours comprise 50-80% of the malignant pulmonary neoplasms diagnosed in children and young adults. Most patients with bronchial carcinoid tumours present with wheezing, cough a...

I minori invisibili e quei segnali da cogliere - RBM-Censis: mobilità sanitaria in crescita - Bimbi in auto, 6 consigli per non dimenticarli - Diabete autoimmune, più rischi se l’esordio è prima dei 10 anni - Bambini in passeggino esposti al doppio dello smog di chi sta in piedi - Farmaci con valproato, AIFA: Mai nelle donne in età fertile - Neuroblastoma. Disponibile in Italia dinutuximab beta nei bambini - Estate: da tetano a tigna, 5 malattie veicolate da animali - Figli di genitori separati in vacanza: istruzioni per l’uso - USA: via libera da FDA al primo farmaco a base di marijuana

M.V.Abate (a cura di)

2018/7

Doppia visione… e quattro messaggi

G. Caddeo

2018/7 — pag. 456-458

L’ombelico non tradisce mai

I. Giuseppin, T. Guerrera, F. Narducci, A. Tonetto

2018/6 — pag. 399-400

Latenza diagnostica in un adolescente con morbo di Crohn: esordio insidioso o diagnosi intempestiva?

A. Casertano, M. Martinelli, A. Staiano

2018/5

Una diagnosi di invaginazione intestinale in tre turni

M. Colombo

2018/2

Un neonato con ernia diaframmatica congenita “nato apparentemente sano”

A. Casertano, F. Di Dato, P. Di Costanzo

2017/8

Tempus fugit… e la tumefazione persiste!

C.M. Pini, F. Lorenzoni, R. Consolini

2017/7

“Ha perso 10 chili in due mesi!”

F. Barbieri, T. Montini

2017/6 — pag. 393-394

Una sclerodermia lineare

S. Contorno, F. Barbieri

2016/6 — pag. 390-392

Spondilodiscite 2016: lezioni dai casi

M. Minute, A. Ventura

2016/2 — pag. 111-114

Spondylodiscitis is an infectious disease that involves two contiguous vertebrae and the interposed disc; it affects children in the first years of life when the local vascularization is characterized by the persistence of connecting vessels. It is...

Casi indimenticabili (e trucchi del mestiere) Leucemia o artrite? Genetica: chi più spende meno spende? Vitamina D e polmoniti ricorrenti Coartazione aortica: brutta bestia anche con lo screening Vaccinazioni: chi la dura la vince? “San Cortisone” e artrite settica

2015/8 — pag. 485-486

Visto il giorno prima!

A. Pelizzoni

2015/4 — pag. 257-258

Le vasculiti “maggiori” in età pediatrica

M. Pavan, F. Marchetti, L. Lepore

2011/4 — pag. 223-228

The most common vasculitides in children are Schönlein-Henoch purpura and Kawasaki disease, both of which are usually easy to diagnose and treat and have a good prognosis. Nevertheless, the typical adult vasculitides, such as Takayasu arteritis, We...

Un reflusso gastroesofageo molto maligno

M. Grassi, V. Cecinati, F. De Leonardis, D. Amato, L.P. Brescia, D. De Mattia, N. Santoro

2010/8 — pag. 529-530

We report a case of a 13-year-old boy with recurrent episodes of vomiting. Initially a diagnosis of gastroesophageal reflux with esophagitis was made. The patient also showed bradycardia and deflections of mood. Neurological assessment and examin...

Un reflusso gastroesofageo molto maligno

M. Grassi, V. Cecinati, F. De Leonardis, D. Amato, L.P. Brescia, D. De Mattia, N. Santoro

2010/8

We report a case of a 13-year-old boy with recurrent episodes of vomiting. Initially a diagnosis of gastroesophageal reflux with reflux esophagitis was made. The patient also showed bradycardia and deflections of mood. Neurological assessment and...

Noi, quelli delle malattie rareIntervista a Margherita De Bac

2010/7 — pag. 455-456

Peggio di così... giovane, inesperta e... terrona!

B. Sacher

2010/4

Sembrava una candida come tante...

M. Mainetti, M. Cappella, P. Banin

2010/1

Sintomi comuni per malattie rare Un approccio generale del pediatra ai pazienti con malattie rare

G. Tornese, V. Declich, G. Ciana, F. Marchetti, E. Barbi

2007/4 — pag. 230-236

As a rule many patients with rare diseases report their symptoms at first to a paediatrician or to a general practitioner. These are considered “specialists” in the cure of common problems, but also “common” patients and “common” symptoms can hide ...

La storia vera, ma troppo lunga, di un lattante con ittero

V. Rametta, L. Zancan

2006/6 — pag. 385-386

La celiachia dal vero: dal bambino all’adulto filo conduttore è l’anemia

T. Gerarduzzi, M. Lazzerini, F. De Franco, A. Lenhardt, I. Berti

2005/7 — pag. 434-455

Quando la mamma è come Cassandra (o meglio quando ne sa più del medico)

G. Tuccio, T. Codamo

2004/8 — pag. 513-514

Una diagnosi sofferta

E. Faleschini, L. Lepore, F. Marchetti

2003/8 — pag. 532-534

Malattie maligne e Pediatria di Famiglia

M&B

2002/8 — pag. 483

Corpo estraneo esofageo

F. Forte, D. Servedio

2001/6 — pag. 402-402

An oesophageal foreign body in a 9 months infant remained undiagnosed for 10 days. The symptoms referred (cry, refusal of solid foods, vomiting) were discontinuous, almost occasional. Finally, direct observation of the infant being fed suggested t...

Celiachia, celiachia: il testing non basta

D. Sambugaro

2001/5 — pag. 323-324

Ernia diaframmatica congenita: un caso di diagnosi tardiva.

A. Giannotta, E. Chiella, D. Codrich, M. Monai, L. Paduano, G. Pelizzo, A. Messineo

2001/1

Una epifisiolisi d'anca trascurata

D. Bello

1999/7

Una coxalgia che nasconde un Perthes

D. Bello

1998/10