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Case Reports
. 2017 Dec 15;9(4):366-370.
doi: 10.4274/jcrpe.4349. Epub 2017 Jun 7.

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

Michael de Graaf  1 , Sarina G Kant  2 , Jan Maarten Wit  1 , Egbert Johan Willem Redeker  3 , Gijs Willem Eduard Santen  2 , Annemieke Johanna Maria Henriëtta Verkerk  4 , André Gerardus Uitterlinden  4 , Monique Losekoot  2 , Wilma Oostdijk  1
Affiliations
Case Reports

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

Michael de Graaf et al. J Clin Res Pediatr Endocrinol. .

Abstract

Cornelia de Lange syndrome (CdLS) is a both clinically and genetically heterogeneous syndrome. In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple organ systems. NIPBL, SMC1A, SMC3, RAD21 and HDAC8, all involved in the cohesin pathway, have been identified to cause CdLS. Growth hormone (GH) secretion has been reported as normal, and to our knowledge, there are no reports on the effect of recombinant human GH treatment in CdLS patients. We present a patient born small for gestational age with persistent severe growth retardation [height -3.4 standard deviation score (SDS)] and mild dysmorphic features, who was treated with GH from 4.3 years of age onward and was diagnosed 6 years later with CdLS using whole-exome sequencing. Treatment led to a height gain of 1.6 SDS over 8 years. Treatment was interrupted shortly due to high serum insulin-like growth factor-1 serum values. In conclusion, GH therapy may be effective and safe for short children with CdLS.

Keywords: Cornelia de Lange syndrome; NIPBL whole-exome sequencing.; growth hormone; small for gestational age.

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Figures

Figure 1
Figure 1. Growth curve of the patient plotted on the growth reference chart for female Dutch children (-2.5, -2.0, -1.0, 0, +1.0, +20 and +2.5 standard deviation lines are shown). Red lines indicate bone age, horizontal lines indicate recombinant human growth hormone treatment (8) SDS: standard deviation score
Figure 2a
Figure 2a. Images of the hands a showing short digits. Published with permission of the patient’s parents. No permission was given to publish photographs of facial features
Figure 2b
Figure 2b. Images of the hands showing short digits, especially of the thumbs and fifth digits. Published with permission of the patient’s parents
Figure 3
Figure 3. Patient’s serum insulin-like growth factor-1 standard deviation score IGF-1: insulin-like growth factor-1, SDS: standard deviation score
See this image and copyright information in PMC

References

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