Mutation

Ittero neonatale prolungato: a volte è solo questione di tempo

Roncareggi S, Evasi V, Condò M, Bellù R, Motta M.

2026/3 — pag. 188-190 — DOI

HF is a full-term newborn, third child of consanguineous parents from Bangladesh. In good general health at birth, she developed significant hyperbilirubinemia within the first 48 hours of life and required phototherapy (PT), with a total of nine tre...

Due casi di malformazioni cavernose cerebrali

Mannarà UM, Migliore A, Marino S, Tardino L, Marino S, La Spina M

2026/3 — pag. 77-78 — DOI

Cerebral cavernous malformations (CCM) are vascular lesions that in children often present with diverse and misleading symptoms. This report examines two clinical scenarios: the case of a 12-year-old boy with progressive headache and that of an 11-ye...

Mutazione del gene PTEN; melanocitosi dermica congenita

2026/1 — pag. 60 — DOI

Bassa statura: tutta colpa del papà

Tornese G.

2025/9 — pag. 598-600 — DOI

A child with slow growth and normal hormonal tests shows distinctive physical features. Clinical exome sequencing reveals a mutation in the IHH gene, inherited from the father, who had initially been overlooked. The child responds very well to growth...

Sindrome ATR-X

Scupilliti S, Selicorni A.

2025/3 — pag. 177-179 — DOI

Ematuria e non solo... a volte è questione di famiglia: la sindrome di Alport

Sarno E, Alberici I, La Scola C, Pillon R, Pasini A

2025/3 — pag. 72-72 — DOI

The paper reports the case of a 4-year-old girl with recurrent episodes of macrohematuria. Her family history revealed renal and ocular anomalies. Clinical and genetic analyses confirmed X-linked compound heterozygosity for Alport syndrome, with two ...

Un cuore grande così... dalla nascita

Troisi A, Bruno I, Ragni L, Nuzzo A, Marchetti F

2024/2 — pag. 30-31 — DOI

The diagnosis of dilatative cardiomyopathy due to a new mutation of MYH7 gene was eventually made in a 1-month-old infant presenting with dyspnoea and difficult feeding. ...

Un’insolita associazione: iperferritinemia e cataratta

Guardo C, Esposto MP, Chinello M, Cesaro S

2023/10 — pag. 217-218 — DOI

A 3-year-old boy presented with microcytic anaemia and hyperferritinaemia, in the absence of signs of iron overload. Once the main gastroenterological, rheumatological, haematological and infectious causes had been ruled out, despite the absence of s...

Malformazioni linfovascolari? Sì-rolimus!

Catelli A, Cantarini M, Grasso AG

2023/9 — pag. 199-199 — DOI

The case of a newborn with a complex lymphovascular malformation is presented. A somatic mutation of the PIK3CA gene was documented and the treatment with sirolimus was successfully administered....

Astenia e alcalosi ipocloremica: un binomio che impone un sospetto

Bianchi E, Sale R, Carcangiu F, Bernassola M, Contini G, Crosa D, Fadda R, Quarta V, Tuvoni S, Attene A

2023/5 — pag. 88-88 — DOI

A 13-year-old, previously healthy boy arrived in the emergency room complaining deep asthenia. The diagnosis of cystic fibrosis was suspected and eventually confirmed due to the presence of metabolic alkalosis....

Un caso insolito di trombocitopenia

Barachino A

2023/1 — pag. 4-5 — DOI

A two-and-a-half-year-old child presents with spontaneous ecchymosis. In addition to severe thrombocytopoenia, initial investigations show the presence of neutropoenia and signs of immune-mediated haemolysis (positivity of the direct antiglobulin tes...

Ossa rotte e diagnosi difficili

Malni I.

2022/9 — pag. 601-604 — DOI

The Author describes the case of a 5-year-old boy with recurrent bone fractures without blue sclera eventually diagnosed as osteogenesis imperfecta due to a mutation in BMP1 gene....

Macrotrombocitopenia, dismorfismi facciali e ritardo dello sviluppo psicomotorio: alla scoperta del gene CDC42

Fabbri E, Giardinelli S, Filippini B, Gasperini P, Mazzocco M, Radice C, Marchetti F, Pericoli R

2022/9 — pag. 181-186 — DOI

Cell Division Control 42 (CDC42) gene encodes for a small GTPase with a fundamental role in controlling intracellular signaling pathway. Gene mutations can cause different phenotypic manifestations, which reflect the variety of the role of this media...

Ossa rotte e diagnosi difficili

Malni I

2022/9 — pag. 190-191 — DOI

The Author describes the case of a 5-year-old boy with recurrent bone fractures without blue sclera eventually diagnosed as osteogenesis imperfecta due to a mutation in BMP1 gene....

Una colestasi che ritorna

Medici F

2022/8 — pag. 527-530 — DOI

The case of a 13-month-old girl with recurrent cholestasis finally diagnosed with BRIC (Benign Recurrent Intrahepatic Cholestasis) is described. The clinical, therapeutic and prognostic implications of BRIC are also discussed....

Una colestasi che ritorna

Medici F

2022/8 — pag. 169-170 — DOI

The case of a 13-month-old girl with recurrent cholestasis finally diagnosed with BRIC (Benign Recurrent Intrahepatic Cholestasis) is described. The clinical, therapeutic and prognostic implications of BRIC are also discussed....

L’ipogammaglobulinemia che aiuta a spiegare una anemia microcitica di difficile interpretazione

Catania MA, Trizzino A, Mosa C, Trizzino A, Regina I, Ferrari S, D’Angelo P

2022/7 — pag. 152-152 — DOI

The case of a 3-month-year old child presenting with microcytic anaemia is described. He subsequently developed viral encephalitis. The presence of hypogammaglobulinemia and of a mutation in TRNT1 gene at the genome analysis (NSC) led to the diagnosi...

Sindrome dello spettro autistico e macrocefalia: la sindrome di Cowden

Iacono A, Parmeggiani G, Mellino C, Moschettini V, Marchetti F.

2022/5 — pag. 330-332 — DOI

The paper reports the story of a 4-year-old boy presenting with macrocephaly and autism spectrum disorder. Genetic testing for an overgrowth syndrome revealed the presence of a heterozygous mutation in the PTEN gene, responsible for Cowden syndrome. ...

Sindrome dello spettro autistico e macrocefalia: la sindrome di Cowden

Iacono A, Parmeggiani G, Mellino C, Moschettini V, Marchetti F

2022/5 — pag. 97-101 — DOI

The paper reports the story of a 4-year-old boy presenting with macrocephaly and autism spectrum disorder. Genetic testing for an overgrowth syndrome revealed the presence of a heterozygous mutation in the PTEN gene, responsible for Cowden syndrome. ...

Un caso di diagnosi precoce di diabete neonatale permanente conseguente a mutazione del gene KCNJ11

Pietravalle A, Cavicchioli P, Donadel E, Lusiani M, Malusa T, Rossi G, Contreas G, Chirico M

2022/2 — pag. 39-42 — DOI

Neonatal diabetes mellitus (NDM) is a rare condition characterized by onset of persistent hyperglycaemia with-in the first six months of life. Heterozygous mutations in KCNJ11 gene account for about half of the cases of per-manent form of NDM and are...

Encefalopatie epilettiche e dello sviluppo: dalla pratica alla genetica, andata e ritorno

Zanus C, Musante L, Faletra F, Carrozzi M, Costa P.

2022/1 — pag. 33-40 — DOI

In the last decades the research on the genetics of epilepsy has greatly expanded, supported by the development of effective next-generation sequencing (NGS) methods. In particular, the studies in Developmental and Epileptic Encephalopathies (DEEs) d...

Il neonato che “sa di sale”

Serra G, Antona V, D’Alessandro M, Corsello G

2021/2 — pag. 119-122 — DOI

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Clinical spectrum with neonatal onset includes salt loss, hyponatremia, hypochloraemia, hyperkalaemia, metabolic acidosis and increased p...

I lividi di ADA(2)

A. Filpo

2020/1 — pag. 14-15

Un caso di pancreatite cronica a esordio infantile: quando una diagnosi genetica non basta

A. Casertano, C. Coppola, J. Cerullo, R. Iorio, C. Mollica, R. Auricchio

2019/10 — pag. 234-237

The present work reports a case of a 6-year-old child with a diagnosis of chronic pancreatitis. The relevance of this case is in the complex aetiology of the pancreatitis with a genetic mutation of SPINK1 gene (N34S) and a probable functional issue (...

Corto come il papà

G. Tornese

2019/7 — pag. 431-437

Familial short stature is the second cause of short stature immediately after constitutional delay of growth and puberty. So far, in case of familiarity for short stature, regular growth velocity, bone age compatible with chronological age, the ind...

Il neonato a colori: a strisce colorate (Arlecchino)

G. Corsello, M. Schierz

2018/10 — pag. 649-650

Fibrosi cistica atipica con pancreas divisum completo: quale relazione?

C. Coppola, I. Parente, S. Errichiello, L. Martemucci

2018/8

Difetti immunitari non convenzionali in pazienti con infezione grave

A. Marzollo, J. Bustamante, M.C. Putti, M. Stronati, M. Bendavid, J-L. Casanova, G. Basso, A. Borghesi

2017/8 — pag. 503-510

Severe infectious disease in an otherwise healthy child is often perceived as a sporadic event with no genetic cause. Recent data challenge this assumption showing that a mutation in genes involved in host defence can be found in a significant prop...

Sindrome di Waardenburg: descrizione di un caso clinico

V. Carrato, A. Spinelli, I. Bruno

2017/5 — pag. 323-324

Waardenburg syndrome - type 1 (WS1) is an autosomal dominant disease clinically and genetically heterogeneous. It is characterized by non-progressive sensorineural hearing loss of variable degree and anomalous pigmentation of the eyes and the skin ca...

MAS in WAS? (una Wiskott-Aldrich non convenzionale)

S. Amoroso

2016/10

La sindrome di Cornelia de Lange

V. Decimi, A. Cereda, M. Mariani, L. Bettini, A. Selicorni

2016/6 — pag. 373-380

Which are the distinctive features of Cornelia de Lange syndrome? When should it be suspected? Which of these features are of interest for a paediatrician who assists a young patient with this syndrome? Which tools can the paediatrician use in orde...

Ipopituitarismo congenito

P. Matarazzo, M. Repici, A. Ravaglia

2015/7 — pag. 452-457

A lot of genes govern pituitary gland development, differentiation and function. Mutations in those genes, as well as toxic or infective intrauterine noxae, could derange pituitary gland development, differentiation and function. More precocious is...

Sindrome da Iper-IgD (HIDS): descrizione di un caso clinico

C. Granato, M.F. Gicchino, G. Cantelmi, A. Mauro, A.N. Olivieri

2015/3

Non è sempre colpa della mamma!

G. Ferrara

2015/2

Una cosa può essere rara… ma esiste!

G. La Fauci, L. Marangio, E. Valletta

2015/2

Un neonato che dorme troppo…

M. Tommasi

2014/6

BRIC e PFIC 2 un continuum tra genotipo e fenotipo?

S. Ghione, M.E. Di Cicco, F. Moscuzza, G. Rossi, M. Segreto, G. Marsalli, G. Maggiore

2013/5

Una strana iperglicemia…

F. Navarra, A.M. Tranchida, R. Roppolo, F. La Rocca, G. Corsello, F. Cardella

2013/4

Rachitismo vitamina D-resistente: dalla clinica alla genetica, “andata e ritorno”

G.I. Baroncelli, B. Toschi, L. Cinquanta, P. Manfredi, A. Rossodivita, A. Michelucci, F. Baldinotti, S. Bertelloni

2013/2 — pag. 89-99

The term “vitamin D-resistant rickets” was used to describe a clinical condition which was indistinguishable from the common rickets except that the signs occurred in spite of adequate vitamin D treatment. Recent studies showed that vitamin D-resis...

Linfoistiocitosi emofagocitica: una sfida diagnostica per il pediatra

E. Sieni, V. Cetica, M. Aricò

2012/1 — pag. 21-29

Haemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome caused by uncontrolled but ineffective immune response. Inherited human disorders causing the defect of selected proteins involved in the cellular cytotoxicity machinery...

Incremento delle transaminasi in un bambino con ipofibrinogenemia congenita e ipobetalipoproteinemia famigliare

M. Fornaro, E. Valletta

2012/1

The article reports the case of a 32-month child, born at the 28th week of gestational age, with a slight persistent increase in AST and ALT since the 11th month of age, hypofibrinogenemia and initial growth delay. Investigations excluded common caus...

Uno, cento, mille diabeti - Parte seconda

G. Tornese, L. Rubert, G. Tonini, E. Faleschini

2011/10 — pag. 635-643

The term “diabetes mellitus” does not only refer to one disease, but to a group of metabolic diseases characterized by chronic hyperglycemia. Besides these two main forms (type 1 and type 2 diabetes mellitus), there are a number of less known classif...

Il ritardo mentale: cause, genetica, intervento

F. Panizon

2011/8 — pag. 520-525

Mental retardation (MR) consists of: a) a defect of IQ higher than 2 SD (...

Una speciale anemia sideropenica

M. Davitto, G. Ansal, A. Monno, E. Giglione, C. Maria Maddalena Fiorito, A. Conconi, P. Delbini, V. Vaja, A. Franzil

2011/8

Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder characterized by: congenital hypochromic, microcytic anemia, very low mean corpuscular erythrocyte volume, low transferring saturation, poor response to oral iron suppl...

Aspetti clinici inusuali e ingannevoli dell’acidosi tubulare renale distale all’esordio

G. Liccioli, A. Provenzano, S. Giglio, I. Pela

2011/5 — pag. 329-330

Primary distal renal tubular acidosis (dRTA) is a genetic disease in which the α-intercalated cells of the collecting duct are unable to secrete H+ and to acidify urine, resulting in hypercloremic metabolic acidosis. Other biochemical alteration...

Aspetti clinici inusuali e ingannevoli dell’acidosi tubulare renale distale all’esordio. Utilità della diagnosi molecolare

G. Liccioli, A. Provenzano, S. Giglio, I. Pela

2011/5

Primary distal renal tubular acidosis (dRTA) is a genetic disease in which the α-intercalated cells of the collecting duct are unable to secrete H+ and to acidify urine, resulting in hypercloremic metabolic acidosis. Other biochemical alteration...

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

Haiti: quasi metà dei feriti sono bambiniHaiti: dieci americani fermati per traffico illegale di bambiniEsami di maturità, scelte le materieMorte improvvisa causa mutazione 2 geniOsteoporosi nei bambini. Rara e spesso asintomatica Curare malati terminali accorcia la vitaTumore utero: vaccino a una bimba su 3Il bisturi facile dei ginecologi italiani. Soprattutto nelle strutture privateSì a famiglie atipiche1 bambino su 10 “sente le voci”Bambini ambidestri: maggiori difficoltà di comportamentoUe: meno infezioni da alimenti. In Italia la salmonellosi al primo posto

a cura di Irene Bruno e Alessandra Perco

2010/2

Eteroplasia ossificante progressiva: una nuova mutazione del gene GNAS1 e rassegna della letteratura

S. Mattia, G. Mantovani, N. Guaraldi, R. Pagano, A. Venuta, P. Ferrari

2008/3 — pag. 193-194

Progressive osseous heteroplasia (PHO) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and by progressive heterotopic ossification of cutaneous, subcutaneous and deep con...

Eteroplasia ossificante progressiva: una nuova mutazione del gene GNAS1 e review della letteratura

S. Mattia, G. Mantovani, N. Guaral, R. Pagano, A. Venuta, P. Ferrari

2008/3

Nascosti dietro un naso capriccioso

M. Maschio

2007/7

Il diabete neonatale, nelle sue forme transitorie e permanenti

E. Faleschini

2007/3 — pag. 169-172

Transient and permanent neonatal diabetes mellitus are rare conditions occuring in 1:400,000-500,000 newborns. Transient neonatal diabetes mellitus begins in the first few weeks of life and disappears in a few months with frequent later relapse as ...

I meccanismi della proteinuria (parte seconda)

G. Bartolozzi

2006/6

Fibrosi cistica atipica

C. Castellani

2006/3 — pag. 155-173

In recent years the ability to detect cystic fibrosis (CF) mutations has greatly expanded the clinical spectrum of the disease. In a rising number of patients an atypical, usually mild phenotype is found; in others a single clinical feature predomina...

ß-talassemia (Parte prima)

G. Bartolozzi

2006/1

Efficacia a lungo termine del vaccino contro l'epatite B, nonostante la presenza di mutanti.

G. Bartolozzi

2005/9

Ipotiroidismo subclinico: dalla teoria alla pratica

C. Locatelli, M. Bensa, M. Pocecco

2005/3 — pag. 165-168

Subclinical hypothyroidism is a biochemical state characterized by an elevated serum TSH level with concomitant normal FT4 value. While in adults it frequently progresses to clinically evident hypothyroidism, in children it may be a benign and remi...

La malattia di Anderson-Fabry in età pediatrica

V.I. Guerci, M.G. Pittis, G. Ciana, et al.

2003/5 — pag. 309

Fabry disease is an X-linked, recessive inborn error of glycosphingolipid metabolism resulting from deficient alpha-galactosidase A activity. The codifying gene has been mapped in position Xq22.1 and more than 150 mutations are known, most of them ...

Dalla clinica alla genetica.Il percorso di una famiglia in un caso di sindrome di  Rett

S. Tambè, T. Gerarduzzi, A. Scabar

2002/5

Caratterizzazione genetica e terapia enzimatica sostitutiva nella forma neurologica acuta della malattia di Gaucher

G. Ciana, C. Martini, M. Romano, B. Bembi

2002/2

Fibrosi cistica: dal gene alla pratica

L. Giglio, D. Faraguna

1999/1 — pag. 21-25

The identification of CF gene prompted several advances in the understanding of the disease, as well as practical improvements in the diagnosis. New perspectives are also open with respect to screening programs and therapeutic implications. At pres...

Sordità congenita e geneticaSulla terapia dell’otiteUna brutta storiaLo stato dell’assistenza pediatricaStatistiche: errata corrige

1999/1 — pag. 14-18