Regressione psicomotoria

Sindrome di Rett

Cianci P, Picchi R, Armano C, Selicorni A

2021/8 — pag. 519-521 — DOI

Sindrome di Alpers-Huttenlocher, epilessia, uso del perampanel e medicina narrativa

P. Ricciardelli, A. Zucchini, M.F. Gatto, G. Rametta, F. Marchetti

2017/9

Alpers-Huttenlocher Syndrome (AHS) is a mitochondrial disease that should be suspected in the presence of three clinical cases: refractory epilepsy, liver disease and pro-gressive psychomotor regression. The onset occurs within the first year of age ...

Quando una vitamina fa la differenza...!

P. Gallo, A. Lambertini, C. Landini, E. Mazzoni, F. Marchetti

2016/4 — pag. 231-236

Vitamin B12 deficiency, a rare condition in the paediatric population, can lead to serious haematological consequences and alterations in the neurocognitive development if not promptly recognized and treated. The paper reports the cases of two infa...

Grave deficit di vitamina B12 in una lattante

F. Colonna, E. Moretto, P. Costa, F. Zennaro

2011/4

An 11-month-old female was admitted to our hospital for anorexia, pallor and developmental regression. She had been exclusively breast-fed. Mother with thyroiditis, non vegetarian. Hemogram in the baby revealed macrocytic anaemia (8.4 g/dl Hb, MCV 99...

Dalla clinica alla genetica.Il percorso di una famiglia in un caso di sindrome di  Rett

S. Tambè, T. Gerarduzzi, A. Scabar

2002/5