Muscle Hypotonia

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

A.G. Grasso

2018/4

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

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...

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

L. Matarazzo, C. Zanchi

2014/8

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...

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...

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...

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

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

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...