Psychomotor Disorders

Astasia-abasia psicogena a 13 anni... è possibile?

Menghi A, Addeo A, Radice C, Vignutelli L, Marchetti F.

2026/1 — pag. 53-56 — DOI

Anna, a 13-year-old girl with a family background of separation and fluctuating academic performance, manifested sudden gait disturbances and muscle weakness. Despite the alarming symptoms, all clinical investigations (CT scan, EEG, blood tests) w...

La sindrome di Kleefstra

Mariani M, Selicorni A.

2024/6 — pag. 387-389 — DOI

La sindrome KBG

Carrer A, Mariani M, Selicorni A.

2023/5 — pag. 321-323 — DOI

Macrotrombocitopenia, dismorfismi facciali e ritardo dello sviluppo psicomotorio: alla scoperta del gene CDC42

Fabbri E, Giardinelli S, Filippini B, Gasperini P, Mazzocco M, Radice C, Marchetti F, Pericoli R

2022/9 — pag. 181-186 — DOI

Cell Division Control 42 (CDC42) gene encodes for a small GTPase with a fundamental role in controlling intracellular signaling pathway. Gene mutations can cause different phenotypic manifestations, which reflect the variety of the role of this media...

Sindrome di Rett

Cianci P, Picchi R, Armano C, Selicorni A

2021/8 — pag. 519-521 — DOI

Un bambino che non mangia… e non sta seduto

Trippella G, Iacopelli J

2021/5 — pag. 157-157 — DOI

The Authors describe the case of an 11-month-old infant with severe vitamin B12 deficiency consequent to a strict vegan diet followed by the mother during pregnancy and to a strictly vegan weaning. The child presented with food refusal, somatic growt...

Sindrome di Angelman

L. Bettini, P. Cianci, A. Selicorni

2018/10 — pag. 655-657

Sindrome di Smith-Magenis

P. Cianci, R. Onesimo, G. Zampino, A. Selicorni

2018/5 — pag. 319-321

La sindrome di Pallister-Killian

L. Bettini, S. Tajè, A. Selicorni

2017/10 — pag. 657-658

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 ...

La sindrome di Rubinstein-Taybi

P. Cianci, L. Bettini, A. Selicorni

2017/8 — pag. 523-525

La sindrome di Wolf-Hirschhorn

L. Bettini, P. Cianci, A. Selicorni

2017/6 — pag. 389-390

Quando la genetica ti cambia le carte in tavola

M. Pasetti, F. Crosti, S. Maitz, C. Fossati, V. D’Apolito, A. Selicorni

2016/7

C'è sempre un vegano da mangiare

E. Ferretti, M.V. Micheletti, G.I. Baroncelli, G. Federico

2016/4 — pag. 255-258

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...

Tanto volume per nulla…

E. Alberti, C. Domenici, F. Massei, M. Nardi, C. Favre, R. Domenici

2014/4

Grave deficit di vitamina B12 in una lattante

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

2011/4 — pag. 259-261

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...

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...

Alopecia bitemporale e strie di iperpigmentazione in lattante con ritardo psicomotorio

G. Ciana, M.C. Fertz, C. Sanesi, S. Demarini, V. Petix, V. Pecile

2009/3 — pag. 189-190

The careful classification of a psychomotor delay in an infant is often a difficult task for paediatricians. Many hospital admissions for clinical, instrumental and laboratory investigations, are often needed, even though an exact diagnosis is no...

Alopecia bitemporale e strie di iperpigmentazione in lattante con ritardo psicomotorio

G. Ciana, M.C. Fertz, C. Sanesi, S. Demarini, V. Petix, V. Pecile

2009/3

Malnutrizione severa e riabilitazione psicomotoria. Un'esperienza in Angola

E. Dudine

2008/10 — pag. 681-682

Severe malnutrition is a condition that shows high mortality. It is usually treated in hospital by following a nutritional rehabilitation protocol that should also include a period of psychomotor stimulation, which, out of necessity, is frequently ig...

Malnutrizione severa e riabilitazione psicomotoria. Un'esperienza in Angola

E. Dudine

2008/10

Domande e risposte

2003/7 — pag. 469

Autismo e intestino: anche celiachia?

G. Gambino, P. Di Stefano

2002/8

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

S. Tambè, T. Gerarduzzi, A. Scabar

2002/5

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...

Cisti aracnoidea associata a nevo di Becker

C. De Meco, M. Crisetti, M. Germano, Mi. Jussi, P. Paolucci

1999/8

Cisti aracnoidea associata a nevo di becker

C. De Meco, M. Crisetti, M. Germano, M.I. Jussi, P. Paolucci

1999/8 — pag. 471-472

La sindrome CFC (Cardio-facio-cutaneous syndrome): un caso con piastrinopenia

A. Borrelli, G. Pinto

1999/3

La sindrome cfc: un caso con piastrinopenia

A. Borrelli, G. Pinto

1999/3 — pag. 149

Fenilchetonuria materna

G. Nassimbeni

1997/4 — pag. 251-253