Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Epileptic crisis

2 articoli — 2022-2024

EL I Poster degli specializzandi
Accesso libero
Se ha crisi e MaNGIE male pensa a mitocondriopatia

Gauci MC, Di Nora A, Meli C

2024/5 — pag. 96-97 — DOI

The diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome, using next-generation sequencing (NGS) panel for genes associated with encephalopathy, was finally made in a 4-year-old girl who presented with marked dystrophy (wi...

EL I Poster degli specializzandi
Accesso libero
Indovina chi? Uno dei due “mente”

Sette C, Ricci M

2022/6 — pag. 136-136 — DOI

Two intriguing cases in which a somatic disease has been suspected are presented. The diagnosis of a functional disorder was confirmed for only one of them....

Argomenti correlati
Diagnosis, Differential (264) Seizures (93) Epilepsy (82) Deglutition Disorders (66) Somatoform Disorders (50) dysphagia (43) disfagia (39) Conversion Disorder (26) Crisi epilettiche (18) Mitochondrial Diseases (13) High-Throughput Nucleotide Sequencing (13) Psychotherapy (12) Neuropatia periferica (9) Epileptic encephalopathy (9) Acidosis, Lactic (9) Peripheral neuropathy (9) Peripheral Nervous System Diseases (7) crisi epilettica (7) Psicoterapia (6) Lactic acidosis (6)