Case report

JIM 2025; 2 (3): e998
DOI: 10.61012_20258_998

Exploring neuropathic pain in Fabry Disease: a review of pathogenesis, diagnostic pitfalls and management starting from clinical cases

Cappozzo F.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy Close
ORCID , La Rosa A.
Pediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Schiaffino M. C.
Pediatric Clinic and Endocrinology, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Perri F. N.
Pediatric Clinic and Endocrinology, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
, Gandullia P.
Pediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Madeo A.
Pediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
annalisamadeo@gaslini.org Close
ORCID

JIM 2025; 2 (2): e924
DOI: 10.61012_20255_924

A diagnostic x-ray in a newborn with skeletal abnormalities: a rare case of mucolipidosis type 2

Maines E.
Division of Pediatrics, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy
evelina.maines@apss.tn.it Close
ORCID , Cardellini M. C.
Division of Neonatology, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
, D’Onofrio D.
Division of Neonatology, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
, Zardini S.
Division of Obstetrics and Gynecology, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
, Rivieri F.
Division of Medical Genetics, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
, Antoniazzi F.
Regional Center for the Diagnosis and Treatment of Children and Adolescents with Rare Skeletal Disorders, Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy Close
ORCID , Zoller T.
Regional Center for the Diagnosis and Treatment of Children and Adolescents with Rare Skeletal Disorders, Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy Close
, Michot C.
Centre de Référence des Maladies Osseuses Constitutionnelles, Necker-Enfants Malades Hospitals, Paris, France Close
, Soffiati M.
Division of Pediatrics, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
, Franceschi R.
Division of Pediatrics, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
ORCID

JIM 2025; 2 (1): e705
DOI: 10.61012_20252_705

A multidisciplinary biochemical and genetic approach for the diagnosis of congenital adrenal hyperplasia: a pediatric case

Ranaudo M.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
, Dell’Elice A.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
, Navicella A.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy
aurora.navicella@studenti.unich.it Close
, Minelli M.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
, Tommolini M. L.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Zucchelli M.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Ferrante R.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Mohn A.
Department of Pediatrics, G. D’Annunzio University of Chieti-Pescara, Chieti, Italy Close
ORCID , Gatta V.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID

JIM 2024; 1 (3): e586
DOI: 10.61012_20248_586

Eye movement desensitization and reprocessing treatment: new psychotherapeutic perspectives in the context of metabolic diseases

Carcereri M. S.
Inherited Metabolic Disease Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Disease and Congenital Endocrine Disease, Azienda Ospedaliera Universitaria Integrata Borgo Trento, Verona, Italy Close
, Vissani S.
Pediatric Unit, Program of Endocrine Metabolic Disease, University of Bologna, IRCCS Sant’Orsola-Malpighi University Hospital, Bologna, Italy
sofia.vis.psy@gmail.com Close