Login
Register
Reset Password
Publish & Distribute
Publishing Solutions
Distribution Solutions
Subjects
Architecture and Design
Arts
Business and Economics
Chemistry
Classical and Ancient Near Eastern Studies
Computer Sciences
Cultural Studies
Engineering
General Interest
Geosciences
History
Industrial Chemistry
Jewish Studies
Law
Library and Information Science, Book Studies
Life Sciences
Linguistics and Semiotics
Literary Studies
Materials Sciences
Mathematics
Medicine
Music
Pharmacy
Philosophy
Physics
Social Sciences
Sports and Recreation
Theology and Religion
Publications
Journals
Books
Proceedings
Publishers
Blog
Contact
Search
EUR
USD
GBP
English
English
Deutsch
Polski
Español
Français
Italiano
Cart
Home
Journals
Journal of Mother and Child
Volume 24 (2020): Issue 4 (December 2020)
Open Access
A Patient with neonatal cholestasis
Kristl G. Claeys
Kristl G. Claeys
,
Luc Breysem
Luc Breysem
,
Eric Legius
Eric Legius
,
Hilde Brems
Hilde Brems
,
David Cassiman
David Cassiman
,
Matthieu Moisse
Matthieu Moisse
,
Pieter Vermeersch
Pieter Vermeersch
,
Elena Levtchenko
Elena Levtchenko
and
Jaak Jaeken
Jaak Jaeken
| Jul 16, 2021
Journal of Mother and Child
Volume 24 (2020): Issue 4 (December 2020)
About this article
Previous Article
Next Article
Abstract
Article
Figures & Tables
References
Authors
Articles in this Issue
Preview
PDF
Cite
Share
Article Category:
Case study
Published Online:
Jul 16, 2021
Page range:
31 - 33
DOI:
https://doi.org/10.34763/jmotherandchild.20202404.d-20-00012
Keywords
CAT-2
,
dynamin-2 deficiency
,
Gilbert syndrome
,
polyostotic fibrous dysplasia
© 2021 Kristl G. Claeys et al. published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
Figure 1
Family tree of the patient with indication of the mutations.
Figure 2
(A, B) Anterior–posterior and lateral X-ray of the left elbow at 17 years of age. Multiple lytic lesions are found in the medullary location of the distal humerus with thick sclerotic septae towards the cortex and a well-defined lower border (best appreciated on the anterior–posterior incidence). There is no significant cortical thinning or cortical scalloping nor periosteal reaction. Periarticular soft tissue and fat pads appear normal, no signs of hydrops; (C, D, E) nuclear magnetic resonance imaging (MRI) of the left humerus (17 years of age) shows abnormal heterogeneous signal intensity of the medullary cavity of the humerus shaft, hyperintense compared to the intensity of the muscle on the short tau inversion recovery (STIR) and T1-weighted (T1W) sequences. The lesion extends from the proximal to the distal end, is non-enhancing and contains septations as well as a non-specific slightly enhanced nodular lesion in the lower half of the humeral shaft. The difference in the intensities between the lower and upper halves is due to more haemorrhagic and protein-rich fluid in the upper half. These findings are compatible with a non-progressive large cystic lesion in the left humerus shaft. If there is no genetic confirmation of polyostotic fibrous dysplasia, one could consider the possibility of a lymphangioma; (F,G) on follow-up MRI (at 25 years of age), the lesion has decreased in size with a residual component in the proximal humerus and bony ridges in the distal humerus.