Muscle Hypotonia

La sindrome di Koolen-De Vries

Bergo E, Selicorni A.

2026/3 — pag. 179-181 — DOI

Ipotono e inappetenza in un lattante di 4 mesi

Pezzuto M, Di Stefano M, Rigamonti A, Zambon A, Natali Sora MG, Rossana Fiori, Piselli G, Fontana K, Guarneri MP, Barera G

2026/3 — pag. 79-79 — DOI

Infection with Clostridioides botulinum in infants is a rare but potentially fatal condition characterised by descending flaccid paralysis. The study reports the case of a four-month-old female infant admitted to the Emergency Unit with non-specific ...

Un approccio clinico all’ipotono neonatale attraverso i casi

Castaldo B, Cossovel F, Starc M, Bua J, Travan L.

2026/2 — pag. 109-113 — DOI

Neonatal hypotonia may be a sign of different serious conditions (metabolic and genetic diseases, infections, neuromuscular disorders, intracranial haemorrhage or malformations). However, it may also be a common consequence of early gestational age. ...

Thomas, 3 mesi: stitico e… inespressivo…

2026/2 — pag. 83-85 — DOI

Sfide endocrinologiche neonatali: un caso di ipopituitarismo congenito

Carabelli G, Sala Veni C, Cardani R, Salvatore S, Agosti M

2025/7 — pag. 194-195 — DOI

A full-term newborn delivered by urgent caesarean section developed persistent hypoglycemia within the first hours of life, along with hypotonia, poor feeding and prolonged jaundice. Endocrine evaluation revealed congenital hypopituitarism, confirmed...

Quando l'anemia blocca le gambe

Bellotto A, Gagliardo di Carpinello B, Radice C, Addeo AM, Mambelli L, Marchetti F

2024/9 — pag. 191-192 — DOI

A 17-month-old girl was hospitalized for dehydration due to gastroenteritis. She presented with a severe microcytic anaemia (Hb 6.2 g/dl) linked to an exclusive breastfeeding diet. Attempts at introducing solid foods had failed. Despite improvement i...

Fidarsi o non fidarsi del test prenatale non invasivo. Riflessioni a partire da un caso di falso negativo

Neirotti A, Bombaci S, Rubino C

2024/9 — pag. 183-186 — DOI

Non-invasive prenatal testing (NIPT) is a screening for foetal chromosomal abnormalities that identifies at-risk pregnancies and is used to propose a possible invasive genetic confirmation testing in case of its positive results. For Down syndrome (t...

Un caso di botulismo infantile. Non è sempre colpa del miele

Gasperoni U, Acone F, Morandi F, Lazzerotti A

2024/6 — pag. 101-103 — DOI

A 6-month-old infant had been presenting with weak sucking and reduced spontaneous limb movements for a week. He had constipation problems for 4 days followed by hard stool. Upon admission, blood tests including metabolic screening and instrumental i...

La sindrome di Sotos

Scupilliti S, Selicorni A.

2024/2 — pag. 113-115 — DOI

Ipotonia e stipsi... Due segni per una diagnosi

Basilio P, De Martino L.

2023/10 — pag. 664-666 — DOI

The case of a 3-month-old infant presenting with hypotonia and stipsis and finally diagnosed with infant botulism is described....

Ipotonia e stipsi... Due segni per una diagnosi

Basilio P, De Martino L

2023/10 — pag. 223-223 — DOI

The case of a 3-month-old infant presenting with hypotonia and stipsis and finally diagnosed with infant botulism is described....

La Neonatologia… caso per caso

D’Agostin M, Catania MA, Giambrone C, Corsello G.

2023/1 — pag. 38-44 — DOI

Neonatal hypotonia, bronchopulmonary dysplasia, necrotizing enterocolitis and persistent hypoglycemia are some of the main topics in neonatology. This work aims to summarize these four neonatal conditions through illustrative clinical cases. The firs...

Ipotonia e ipertransaminasemia: pensa alla fruttosemia

Zanetto L, Benelli E.

2022/9 — pag. 598-600 — DOI

The case of a 3-month-old acutely hypotonic and hyporeactive girl is described. The diagnosis of fructosemia was eventually posed. The clinical, diagnostic and therapeutic implications of fructosemia are also discussed....

Un buon promemoria Celiachia, celiachia Breve è (più) bello Azitromicina: più parole che evidenze IVIg nella Kawasaki: non va perso tempo Neonatologia personalizzata …Mal comune mezzo gaudio

2022/4 — pag. 215-216 — DOI

La storia dell’atrofia muscolare spinale: questione di tempo

Sutera M, Bruno I

2022/4 — pag. 255-258 — DOI

The authors present the case of a girl diagnosed with spinal muscular atrophy (SMA) and discuss how the new therapeutic approaches may change the prospect of life of the affected patients....

Ipotono e iporeattività post-vaccino esavalente… piccoli problemi di HHE?

Pennisi E, Fontijn S

2021/8 — pag. 526-527 — DOI

The authors described the case of a two-month-old infant who presented with an episode of hypotonia and hyporesponsiveness (HHE) five hours after the hexavalent vaccination. The epidemiology, the pathophysiology and the prognosis of the HHEs are disc...

Poco reattiva: miele amaro

Marsella M

2021/8 — pag. 256-256 — DOI

The authors describe a case of a four-month infant with hypotonia and difficulty swallowing who was eventually diagnosed with an infant botulism....

La sindrome di Zellweger: un lavoro di squadra

Acquaviva I, Cesaroni E, Siliquini S, Sessa F, Marini C

2021/8 — pag. 233-240 — DOI

A 1-month female infant with hypotonia, feeding difficulties, facial dysmorphic signs, hepatomegaly and seizures was admitted to the neonatal intensive care unit. Brain magnetic resonance revealed regions of cortical dysplasia, diffuse polymicrogyria...

Neonato piccolo, ipotonico, con difficoltà di alimentazione: pensiamo anche alla sindrome di Temple

Dal Bo S, Muratori C, Nardini C, Donati I, Magistà AM, Marchetti F

2021/5 — pag. 138-140 — DOI

Temple syndrome is a rare imprinting disorder mainly due to maternal uniparental disomy of the chromosome 14. It represents the main differential diagnosis of Silver-Russell and Prader-Willi syndrome. This syndrome is characterized by growth retardat...

Una ipotonia un po’ lassa

E. Battistuz, G. Zanella

2020/2 — pag. 37-37

Un neonato a termine ipotonico: pensa anche alla sindrome di Prader-Willi

M.C. Bariola, E. Vaccina, L. Lugli, A. Berardi, L. Lucaccioni, L. Iughetti, F. Ferrari

2019/1 — pag. 52-54

The paper describes the case of a term newborn infant, born by elective caesarean section with no prenatal and perinatal risk factors. He presented with an unexpected cardiorespiratory depression at birth, severe hypotonia, feeding problems and pecul...

Sindrome di Prader-Willi

P. Cianci, A. Bosco, M. Ferrario, A. Selicorni

2019/1 — pag. 49-51

Un neonato a termine ipotonico: pensa anche alla sindrome di Prader-Willi

M.C. Bariola, E. Vaccina, L. Lugli, A. Berardi, L. Lucaccioni, L. Iughetti, F. Ferrari

2019/1 — pag. 5-9

The paper describes the case of a term newborn infant, born by elective caesarean section with no prenatal and perinatal risk factors. He presented with an unexpected cardiorespiratory depression at birth, severe hypotonia, feeding problems and pecul...

I grandi occhi del piccolo lattante: un caso di “coma” acuto

A.G. Grasso

2018/4

La sindrome di Pallister-Killian

L. Bettini, S. Tajè, A. Selicorni

2017/10 — pag. 657-658

Disordini dello "spettro Zellweger": rara causa di convulsioni e ipotonia nel neonato

G. Stangoni, T. Becchetti, G.M. Campus, A. Fantauzzi, R. Scattoni, A. Zeringyte

2016/9 — pag. 602-604

The paper describes a case of a newborn suffering from severe hypotonia and drug-resistant seizures, who was diagnosed with a “Zellweger spectrum” disease by means of biochemical and enzymatic tests. The “Zellweger spectrum” disorders are a group...

Disordini dello “spettro Zellweger”: rara causa di convulsioni e ipotonia nel neonato

G. Stangoni, T. Becchetti, G.M. Campus, A. Fantauzzi, R. Scattoni, A. Zeringyte

2016/9

La medicina “magica” che ti rimette in piedi

G.I. Baroncelli, G. Laccetta, A. Giannoni, F. Massei

2016/7 — pag. 445-448

Prolonged and exclusive breastfeeding without vitamin D supplements is a main determinant of vitamin D deficiency rickets in children of immigrants living in Italy. Dark skin may be an adjunctive factor for the development of rickets. Early signs a...

C'è sempre un vegano da mangiare

E. Ferretti, M.V. Micheletti, G.I. Baroncelli, G. Federico

2016/4 — pag. 255-258

Approccio metodologico “di base” al bambino con sospetta sindrome malformativa

P. Cianci, F. Zanetto, A. Biolchini, A. Selicorni

2016/1 — pag. 27-33

The diagnosis of a genetic syndrome is very important in the life of a child and of their family for various reasons. Thus, paediatricians should be alert because the possible starting manifestations of a syndrome are really very different and vari...

Per una corretta gestione del bambino con ALTE

A. Vigo, S. Noce, A. Ravaglia

2015/5 — pag. 292-297

“Infants with an apparent life-threatening event (ALTE) present to medical attention because of an acute and unexpected change in behaviour that alarmed the care giver. The initial episodes can occur during sleep, awake, or feeding. They are most c...

La concessione del telefono, ossia una mamma testarda, una pediatra ostinata

M.G. Stabile

2015/1 — pag. 50-52

Cifoscoliosi, ipotonia e iperlassità ligamentosa alla nascita: a quale sindrome pensare?

L. Matarazzo, C. Zanchi

2014/8

Diagnosi di malattia di Pompe nel neonato

C. Amador, M. Sacchini, E. Agostini, E. Procopio, E. Laudani, P. Fiorini

2014/6 — pag. 397-399

Pompe disease is an autosomal recessive storage disorder caused by a deficiency in the enzyme α-glucosidase, resulting in intralysosomal glycogen accumulation in skeletal and cardiac muscle. The classic infantile form is characterized by progres...

Quando si dice… non vedere al di là del proprio naso!!!

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

2014/6

Diagnosi di malattia di Pompe nel neonato

C. Amador, M. Sacchini, E. Agostini, E. Procopio, E. Laudani, P. Fiorini

2014/6

Pompe disease is an autosomal recessive storage disorder caused by a deficiency in the enzyme α-glucosidase, resulting in intralysosomal glycogen accumulation in skeletal and cardiac muscle. The classic infantile form is characterized by progres...

Suicidio nell’adolescente: la stampa Suicidio nell’adolescente: il carcere Bagigi alla riscossa Chirurgia nel bambino con Crohn: quanta, come, perché e… con che esito Lattanti ipotonici: quanti Prader-Willi? Promemoria Sclerosi Tuberosa Profilassi antibiotica nel bambino con reflusso vescico-ureterale: dura a morire

2014/5 — pag. 281-282

Vitamina D: è indispensabile... ma non esageriamo!

E.M.G. Marrella, S.Tagliati, S. Brachi, C. Gelli, M. Giovannini, G. Turlà, C. Malaventura

2013/8

The article presents a case of severe hypercalcemia due to hypervitaminosis D in a 5-month-old infant. The child was fed with infant formula. He received 2 drops of 25-hydroxy vitamin D3/day since he was born. His clinical features showed growth reta...

Un lattante ipotonico con scarsa crescita e dermatite

S. Scattolin, R. Meneghetti, G. Policicchio

2013/6 — pag. 389-391

Un lattante che fa (molta) fatica a respirare

P. Assandro, G. Ferrara, A.M. Bramino Chiapello, E. Bignamini

2013/6 — pag. 377-384

The correct diagnosis, the treatment, and the medical care of a newborn with hypotonia and respiratory distress are difficult because several diseases can have similar clinical presentations. The article describes a case of an eight-year-old child,...

Lattante ipotonico con apnee

F. Parata, I. Giovannini, M. Bellettato

2013/3

Una neonata con ipotonia ed un viso particolare

A. Biasini, L. Rocchetti, L. Marvulli, MR Pizzitola

2012/9

The cure and care of the children with congenital chronic disabilities is the real challenge for the hospital-territorial network cooperative model. This organizational strategy will achieve success only if all the caregivers work strictly together t...

Una neonata con ipotonia e un viso particolare

A. Biasini, L. Rocchetti, L. Marvulli, M.R. Pizzitola

2012/9 — pag. 600-602

The cure and care of the children with congenital chronic disabilities is the real challenge for the hospital-territorial network cooperative model. This organizational strategy will achieve success only if all the caregivers work strictly together t...

Guida pratica per il bambino con sindrome di Prader-Willi

G. Tornese, S. Pastore, G. Tonini

2012/3 — pag. 195-196

Although Prader-Willi syndrome is a rare disease, it provides an excellent example of how early diagnosis and meticulous management can significantly improve long-term prognosis of some genetic diseases. These guidelines, particularly addressed t...

Guida pratica per il bambino con sindrome di Prader-Willi

G. Tornese, S. Pastore, G. Tonini

2012/3

Although Prader-Willi syndrome is a rare disease, it provides an excellent example of how early diagnosis and meticulous management can significantly improve long-term prognosis of some genetic diseases. These guidelines, particularly addressed to fa...

Come una bambola di pezza: sindrome di Werdnig-Hoffmann

A. Baio

2010/9

Un lattante ipotonico

M. Marchiori, P. Dalla Via, A. Capretta, L. Da Dalt

2008/4

Tami

F. Fusco

2006/4 — pag. 253-254

ALTE: Apparent Life Threatening Event

G. Nocerino, A. Pelliccia, L. De Seta

2003/10 — pag. 673-676

Un neonato “extralarge” (sindrome di Sotos)

E. Scaffidi

2003/3 — pag. 189-190

Shock da gocce nasali: descrizione di due casi

A. Cirisano, R. Nigro, D.A. Campagna

2001/1

Ittero neonatale e malattia di Nieman-Pick tipo C

C. Martini

2000/10

Ittero neonatale e malattia di Nieman-Pick tipo C

C. Martini

2000/10 — pag. 679-680

A case of early onset Nieman-Pick type C disease, with neonatal onset of mixed hyperbilirubinemia and increased aminotransferases, and later development of hypotonia and psychomotor delay, is reported. The congenital, functional and metabolic caus...

In punta di piedi: storie di piedi, podoscopi e bambini

A. Moschetti

2000/9 — pag. 577-581

Two case reports are presented: the first is a 9-year old boy with second class malocclusion, hypotonic muscles and flat foot, the second is a 12-year old girl with malocclusion, scoliosis and plantar abnormalities. Both cases were successfully man...

Quando digerire può essere dannoso

G. Nassimbeni, G. Palla, A. Ventura

1997/7 — pag. 455-459