Ipotonia

La sindrome di Koolen-De Vries

Bergo E, Selicorni A.

2026/3 — pag. 179-181 — DOI

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. ...

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...

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. 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....

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...

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...

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

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

2014/6

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,...

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...

Shock da gocce nasali: descrizione di due casi

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

2001/1