metabolic disease

Una bambina che cresce poco con strane macchie blu sulla lingua

V. Ettari, M. Catania, R. Barcellona

2013/6 — pag. 395-397

The case of a girl with a strange blue colour on her tongue (and not only) is the opportunity to present, in a tale-like style (narrative medicine), the way that enables to make a diagnosis of a rare disease. In this case the diagnostic reasoning has...

Segnalazione di un caso di diabete neonatale

G. Dioguardi, G. Ricciardi, G. Micelisopo, A. Gallo, AM. D’Antonio, M. De Vivo, A. Palermo

2006/4 — pag. 257-258

Detection of diabetes during neonatal age is very infrequent. Nonetheless early diagnosis is crucial since if not promptly treated with insuline, neonatal diabetes (ND) has a critical course. We report the case of a female neonate, born with birth w...

Un lattante distrofico

L. Calligaris, G. Cont, D. Codrich, F. Zennaro, F. Marchetti

2005/9

Quando una sepsi neonatale nasconde una malattia metabolica

C. Forino, C. Rodriguez-Perez

2005/1 — pag. 58-58

A 50-day-old boy presented with failure to thrive, hypotonia, pustular lesions and facial erythema, neutropenia and multiple positive cultures to Staphylococcus aureus. He was treated with intravenous antibiotics without clinical benefit. He devel...

I geni della malattia: la cura delle malattie genetiche

L.D. Notarangelo

2001/1 — pag. 24-29

The treatment of genetic diseases is not fruit of the imagination, although too many hasty statements, such as those on gene therapy, created a deep disappointment. Effective medical actions include marrow grafting, replacement treatments (enzymes,...