Have a personal or library account? Click to login
A Patient with neonatal cholestasis Cover

A Patient with neonatal cholestasis

Journal of Mother and Child
Volume 24 (2020): Issue 4 (December 2020)
By: Kristl G. Claeys,  Luc Breysem,  Eric Legius,  Hilde Brems,  David Cassiman,  Matthieu Moisse,  Pieter Vermeersch,  Elena Levtchenko and  Jaak Jaeken  
Open Access
|Jul 2021

Figures & Tables

Figure 1

Family tree of the patient with indication of the mutations.
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.
(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.
DOI: https://doi.org/10.34763/jmotherandchild.20202404.d-20-00012 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
Journal RSS Feed
Language: English
Page range: 31 - 33
Published on: Jul 16, 2021
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
CAT-2,
dynamin-2 deficiency,
Gilbert syndrome,
polyostotic fibrous dysplasia
Related subjects:
Medicine,
Clinical medicine,
Pediatrics and juvenile medicine,
Paediatric haematology and oncology,
Public health

© 2021 Kristl G. Claeys, Luc Breysem, Eric Legius, Hilde Brems, David Cassiman, Matthieu Moisse, Pieter Vermeersch, Elena Levtchenko, Jaak Jaeken, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.

Previous articleVolume 24 (2020): Issue 4 (December 2020)Next article