A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2020-09-01

AUTHORS

Valérie Mongrain, Nicolaas H. van Doesburg, Françoise Rypens, Catherine Fallet-Bianco, Justine Maassen, Julien Dufort-Gervais, Lucie Côté, Philippe Major

ABSTRACT

BackgroundDisease severity is tremendously variable in tuberous sclerosis complex (TSC). In contrast with the detailed guidelines available for TSC diagnosis and management, clinical practice lacks adequate tools to evaluate the prognosis, especially in the case of in utero diagnosis. In addition, the correlation between genotypes and phenotypes remains a challenge, in part due to the large number of mutations linked to TSC. In this report, we describe a case of severe TSC diagnosed in utero and associated with a specific mutation in the gene tuberous sclerosis complex 2 (TSC2).Case presentationA mother was referred for a thorough investigation following the observation by ultrasound of cardiac abnormalities in her fetus. The mother was healthy and reported frequent, intense and long-lasting hiccups/spasms in the fetus. The fetus of gestational age 33 weeks and 4 days was found to have multiple cardiac tumors with cardiac ultrasound. Brain magnetic resonance imaging (MRI) performed in utero revealed the presence of sub-ependymal nodules and of abnormal signals disseminated in the white matter, in the cerebral cortex and in the cerebellum. Following diagnosis of definite TSC, pregnancy interruption was chosen by the parents. Genetic testing of the fetus exposed a duplication in exon 41 of TSC2 (c.5169dupA), which was absent in the parents. The autopsy ascertained the high severity of brain damage characterized by an extensive disorganisation of white and grey matter in most cerebral lobes.ConclusionsThis case presentation is the first to depict the association between a de novo TSC2 c.5169dupA and multi-organ manifestation together with indications of a particularly high disease severity. This report can help physicians to perform early clinical diagnosis of TSC and to evaluate the prognosis. More... »

PAGES

324

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12883-020-01905-y

DOI

http://dx.doi.org/10.1186/s12883-020-01905-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1130494483

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/32873234


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28 schema:description BackgroundDisease severity is tremendously variable in tuberous sclerosis complex (TSC). In contrast with the detailed guidelines available for TSC diagnosis and management, clinical practice lacks adequate tools to evaluate the prognosis, especially in the case of in utero diagnosis. In addition, the correlation between genotypes and phenotypes remains a challenge, in part due to the large number of mutations linked to TSC. In this report, we describe a case of severe TSC diagnosed in utero and associated with a specific mutation in the gene tuberous sclerosis complex 2 (TSC2).Case presentationA mother was referred for a thorough investigation following the observation by ultrasound of cardiac abnormalities in her fetus. The mother was healthy and reported frequent, intense and long-lasting hiccups/spasms in the fetus. The fetus of gestational age 33 weeks and 4 days was found to have multiple cardiac tumors with cardiac ultrasound. Brain magnetic resonance imaging (MRI) performed in utero revealed the presence of sub-ependymal nodules and of abnormal signals disseminated in the white matter, in the cerebral cortex and in the cerebellum. Following diagnosis of definite TSC, pregnancy interruption was chosen by the parents. Genetic testing of the fetus exposed a duplication in exon 41 of TSC2 (c.5169dupA), which was absent in the parents. The autopsy ascertained the high severity of brain damage characterized by an extensive disorganisation of white and grey matter in most cerebral lobes.ConclusionsThis case presentation is the first to depict the association between a de novo TSC2 c.5169dupA and multi-organ manifestation together with indications of a particularly high disease severity. This report can help physicians to perform early clinical diagnosis of TSC and to evaluate the prognosis.
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36 TSC diagnosis
37 TSC2 gene
38 abnormal signals
39 abnormalities
40 addition
41 adequate tool
42 age 33
43 association
44 brain damage
45 brain magnetic resonance imaging
46 cardiac abnormalities
47 cardiac tumors
48 cardiac ultrasound
49 case presentation
50 case report
51 cases
52 cerebellum
53 cerebral cortex
54 cerebral lobes
55 challenges
56 clinical diagnosis
57 clinical practice
58 complexes
59 complexes 2
60 contrast
61 correlation
62 cortex
63 damage
64 days
65 definite TSC
66 detailed guidelines
67 diagnosis
68 disease severity
69 disorganisation
70 duplication
71 early clinical diagnosis
72 exon 41
73 fetuses
74 genes
75 genetic testing
76 genotypes
77 gestational age 33
78 gray matter
79 guidelines
80 hiccups
81 higher disease severity
82 higher severity
83 imaging
84 indications
85 interruption
86 investigation
87 large number
88 lobe
89 magnetic resonance imaging
90 management
91 manifestations
92 matter
93 mothers
94 multi-organ manifestations
95 multiple cardiac tumors
96 mutations
97 nodules
98 novel duplication
99 number
100 observations
101 parents
102 part
103 phenotype
104 physicians
105 practice
106 pregnancy interruption
107 presence
108 presentation
109 prognosis
110 report
111 resonance imaging
112 severity
113 signals
114 spasm
115 specific mutations
116 sub-ependymal nodules
117 testing
118 thorough investigation
119 tool
120 tuberous sclerosis complex
121 tuberous sclerosis complex 2
122 tumors
123 ultrasound
124 utero
125 utero diagnosis
126 weeks
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