Colon Transit Scintigraphy in Schaaf-Yang Syndrome.
Journal
Clinical nuclear medicine
ISSN: 1536-0229
Titre abrégé: Clin Nucl Med
Pays: United States
ID NLM: 7611109
Informations de publication
Date de publication:
01 Jan 2022
01 Jan 2022
Historique:
pubmed:
27
6
2021
medline:
15
12
2021
entrez:
26
6
2021
Statut:
ppublish
Résumé
Schaaf-Yang syndrome is a genetic disorder characterized by delayed psychomotor development, hypotonia, intellectual disability, feeding difficulties, and variable dysmorphic facial features. It is an extremely rare disorder with over 250 cases reported in the medical literature. This condition has been determined to be inherited by an autosomal dominant pattern. We present colon transit scintigraphy of a 6-year-old boy with history of chronic constipation with poor response to medical treatment, clinical characteristics, and gene mutations consistent with this syndrome. After oral administration of 111In-DTPA, planar and SPECT/CT images showed rapid proximal colonic transit and anorectal retention.
Identifiants
pubmed: 34172599
doi: 10.1097/RLU.0000000000003778
pii: 00003072-202201000-00060
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e85-e86Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of interest and sources of funding: none declared.
Références
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