Neuromuscular Manifestations

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

Sapere riconoscere la discheratosi congenita

Ballaben A.

2026/1 — pag. 54-56 — DOI

Ginevra was examined at age 14 for neurological and inflammatory symptoms (paresthesia, muscle weakness and xerostomia). The clinical picture remained unclear until the discovery of severe onychodystrophy, which had been hidden for years by nail p...

Senza forze e senza riflessi: non puoi perdere tempo!

Amato M, Marino S, Scirè Calabrisotto S, Catalano D, Stancanelli G, La Spina M

2025/10 — pag. 272-273 — DOI

The paper describes the case of an 8-year-old girl presenting with gait disturbance, paresthesias, weakness, absent reflexes and hoarseness. MRI and CSF findings promptly supported a diagnosis of Guillain-Barré syndrome. The patient rapidly developed...

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...

Un calciatore a cui tremano le gambe: un caso di ipoparatiroidismo

Marchese S, Raso E, Dolce R, Bignone L, Di Bella L, Maggio MC, Corsello G.

2024/9 — pag. 597-600 — DOI

The paper presents the case of a 13-year-old athlete who experienced sudden tremors, limb pain, hand spasms and severe hypocalcemia (6 mg/dl). Tests revealed low parathyroid hormone (PTH), hyperphosphatemia and low vitamin D levels. The diagnosis of ...

Un calciatore a cui tremano le gambe: un caso di ipoparatiroidismo

Marchese S, Raso E, Dolce R, Bignone L, Di Bella L, Maggio MC, Corsello G

2024/9 — pag. 193-195 — DOI

The paper presents the case of a 13-year-old athlete who experienced sudden tremors, limb pain, hand spasms and severe hypocalcemia (6 mg/dl). Tests revealed low parathyroid hormone (PTH), hyperphosphatemia and low vitamin D levels. The diagnosis of ...

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

Crampi muscolari, iperCPKemia e fenomeno “second wind”: la malattia di McArdle

Faraguna MC, Barzaghi S, Crescitelli V, Pretese R, Fornari A, Gasperini S.

2024/1 — pag. 50-53 — DOI

The case of a 12-year-old girl presenting with poor exercise tolerance, muscular cramps and CPK high levels is described. The diagnosis of McArdle disease was eventually made due to the classic “second wind” sign....

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....

Una vecchietta di quattro anni: la dermatomiosite

Gozzi A, Benelli E, Minute M, Strafella MS, Martelossi S.

2023/1 — pag. 53-54 — DOI

The Authors describe the case of a 4-year-old girl with aging appearance of the skin of her hands and feet finally diagnosed as dermatomyositis. The capillaroscopy was a crucial step in the diagnostic process....

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....

Farmaci antiemetici e bilancio tra benefici e rischi: il caso della metoclopramide

Caiazzo R, Liguori F, Addeo AM, Apicella A, Coppola C, Macchini G, Tipo V

2022/8 — pag. 159-162 — DOI

An 8-year-old girl arrived in the Emergency Department presenting with sudden unilateral right trismus, deviation of the jaw, burning pain in the neck with dystonic deviation of the same backwards and dyskinesia. The mother reported that the child st...

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....

Approccio pratico al bambino “sempre stanco”

Gortani G.

2022/3 — pag. 168-172 — DOI

Fatigue is a common, nonspecific symptom with many different aetiologies. The term “fatigue” can be used to describe muscular weakness, difficulty or inability to initiate activity (subjective sense of weakness), reduced capacity to maintain activity...

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...

Covid-19: pistole e orfani Per una volta parliamo dei (vasi) linfatici Sarcopenia e MICI Cose del genere Quando San Cortisone perde le staffe

2021/7 — pag. 417-418 — DOI

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...

Quando la sindrome di Guillain-Barré è più dolore che ipostenia

F. Marchetti, M. Roveran, F. Currò, M. Mainetti, C. Muratori, L. Casadio, P. Ricciardelli

2020/3 — pag. 179-182

The paper reports the case of a 4-year-old girl who had been suffering from progressive pain in her legs and back and impossibility of walking for 10 days. The presence of a slight hyposthenia but with absence of patellar reflexes was observed. The...

Una ipotonia un po’ lassa

E. Battistuz, G. Zanella

2020/2 — pag. 37-37

Paralisi cerebrale e PEG: vedere per credere

C. Udina, S. Lega, G. Gortani, E. Cattaruzzi, E. Barbi

2019/6 — pag. 389-390

Myasthenia gravis giovanile generalizzata

L. Di Genova, A. Paglino

2019/2 — pag. 27-29

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...

La sindrome di Pallister-Killian

L. Bettini, S. Tajè, A. Selicorni

2017/10 — pag. 657-658

La tossina botulinica nel trattamento della spasticità in bambini affetti da paralisi cerebrale

P. Maltoni, P. Cianci, E. Valletta, A. Selicorni, L. Piccinini

2017/6 — pag. 377-383

Botulinum toxin (BoNT) is a powerful rehabilitative instrument used for the focal treatment of spasticity, described in the literature as efficacious and safe, also during developmental age, particularly in patients with cerebral palsy. Used in syn...

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

Storie di “ordinaria” neonatologia

G. Caddeo, A. De Cunto, S. Demarini

2016/2

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

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,...

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...

Una mielite di origine incerta

G. Barbato, G. Monti, L. Leoni, M. Marchesi, E. Pavlidis, G. Cantalupo, F. Pisani, N. Carano

2011/6 — pag. 397-398

Transverse myelitis is a neurologic syndrome caused by acute or subacute inflammation of the spinal cord. Since its incidence is about 0.5/100,000 children/year, transverse mielitis is included in the group of rare diseases. The pathogenesis of the d...

Distrofia muscolare di Duchenne: si può fare di più

2010/10 — pag. 663-664

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

Dalla teoria alla pratica in un paese in via di sviluppo

R. Meneghetti

2008/3

Ipocalcemia: un sintomo dalle tante "facies"

G. Igli Baroncelli, F. Vierucci, G. Saggese

2008/1 — pag. 51-52

Clinical presentation of hypocalcemia ranges from asymptomatic biochemical abnormality to a severe condition characterized by seizures and varying degrees of tetany. Hypoparathyroidism may be a main cause of hypocalcemia. Di- George syndrome may ...

Tami

F. Fusco

2006/4 — pag. 253-254

Un bambino con tetraparesi spastica che non cresce: una storia in tre tempi

F. Marchetti, et al.

2004/8 — pag. 505-507

ALTE: Apparent Life Threatening Event

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

2003/10 — pag. 673-676

La dermatomiosite giovanile

M. Lazzerini

2003/8

Un neonato “extralarge” (sindrome di Sotos)

E. Scaffidi

2003/3 — pag. 189-190

Una bambina di 9 anni con stanchezza progressiva e areflessiaParte prima

G. Bartolozzi

2003/2

Rigidita' nucale e mioclonie ipniche all'arto superiore destrocome sintomi di esordio di astrocitoma midollare

F. Forte, M. Bonelli, C. Calzone, E. Lapacciana .

2003/1

Rigidità nucale e mioclonie ipniche all’arto superiore destro come sintomi di esordio di astrocitoma midollare

2003/1 — pag. 58-58

Case description of a spinal astrocytoma with very slow onset and very discrete initial signs (stiff neck, partial paresis of two fingers of the right hand). The child was admitted to hospital for the presence of localized sleep myoclonias of the ...

Uno spasmo affettivo tardivo

F. Panizon

2002/9 — pag. 601

La paralisi cerebrale infantile: moderni orientamenti in ortopedia riabilitativa

T. Carletti, M. Galli, F. Motta

2001/3 — pag. 162-166

Gross motor impairment and functional disability is a constant component of cerebral palsy. Over time, hypertonia or hypotonia may cause bone deformities and joint dislocations, which cause further impairment and functional problems. Quantitative f...

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 — 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...

Paralisi cerebrale e tossina botulinica: effetto “alzati e cammina”?L’allergia al latte (e ai suoi idrolisati) resta di moda?Reflusso gastroesofageo: ancora una notaTerapia biologica dell’artrite reumatoideAntifolici e gravidanza: è un problema veroIl dolore nei bambini con sindrome di DownParassiti, atopia e ipotesi “igienica”Vitamina E, obesità e transaminasi: più teoria che pratica?False controindicazioni ai richiami vaccinali

2000/10 — pag. 621-622

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