Diencephalic syndrome in childhood, a challenging cause of failure to thrive: miniseries and literature review.


Journal

Italian journal of pediatrics
ISSN: 1824-7288
Titre abrégé: Ital J Pediatr
Pays: England
ID NLM: 101510759

Informations de publication

Date de publication:
17 Aug 2022
Historique:
received: 20 07 2021
accepted: 04 07 2022
entrez: 17 8 2022
pubmed: 18 8 2022
medline: 20 8 2022
Statut: epublish

Résumé

The aim of our study was to better define the clinical pattern of diencephalic syndrome, a rare but potentially lethal cause of failure to thrive in infancy. Poor weight gain or weight loss, the characteristic presenting feature, often firstly attributed to gastrointestinal or endocrinological or genetic diseases, is secondary to a malfunctioning hypothalamus, caused by a diencephalic tumor. Due to its unexpected clinical onset, diagnostic delay and misdiagnosis are common. We described a case series of 3 children with diencephalic syndrome admitted at our Hospital, over a 5-year period. Furthermore, a narrative review on all pediatric cases published in the last seventy years was performed. Clinical pattern, timing to diagnosis, neuroimaging, management, and outcome were analyzed. Our three cases are singularly described in all clinical and diagnostic findings. Overall, 100 children were selected; all these cases as well as our children presented with failure to thrive: 96% had body mass index or weight-length/height ratio lower than 5

Identifiants

pubmed: 35978327
doi: 10.1186/s13052-022-01316-4
pii: 10.1186/s13052-022-01316-4
pmc: PMC9387003
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

147

Informations de copyright

© 2022. The Author(s).

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Auteurs

Sandra Trapani (S)

Department of Health Sciences, Pediatric Unit, Meyer Children's University Hospital, Viale Pieraccini 24, 50139, Florence, Italy. sandra.trapani@unifi.it.

Barbara Bortone (B)

Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.

Martina Bianconi (M)

Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.

Chiara Rubino (C)

Pediatric Unit, Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.

Iacopo Sardi (I)

Neuro-Oncology Unit, Department of Pediatric Medicine, Meyer Children's Hospital, Florence, Italy.

Paolo Lionetti (P)

NEUROFARBA Department, Gastroenterology and Nutrition Unit, University of Florence, Meyer Children's Hospital, Viale Pieraccini, 24, 50139, Florence, Italy.

Giuseppe Indolfi (G)

NEUROFARBA Department, Pediatric Unit, Meyer Children's Hospital, University of Florence, Viale Pieraccini 24, 50139, Florence, Italy.

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