Asian Journal of Case Reports in Medicine and Health

De Grouchy Syndrome: An Unusual Presentation of Severe Short Stature in Type 1 Diabetic Children: A Case Study

Aboulgasem Elgerbi

Pediatric Department, Sabrata Teaching Hospital, Faculty of Medicine, University of Zawia, Zawia, Libya.

Monia Abdulhamed

Pediatric Department, Sabrata Teaching Hospital, Faculty of Medicine, University of Zawia, Zawia, Libya.

Basma Srir

Pediatric Department, Sabrata Teaching Hospital, Faculty of Medicine, University of Zawia, Zawia, Libya.

Mohammed Ab. Aljerbe *

Pediatric Department, Sabrata Teaching Hospital, Faculty of Medicine, University of Zawia, Zawia, Libya.

*Author to whom correspondence should be addressed.

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Abstract

Diabetes mellitus type 1 (DM1) is associated with different clinical syndromes. Some are commonly encountered, like Turner's syndrome, while others are rarely found in clinical practice, namely, De Grouchy syndrome. This is a rare genetic disorder characterised by micro deletions in the short arm of the chromosome 18.

There are many contributing factors for a retarded growth in a diabetic child, for example, poor glycaemic control, associated thyroid disease, celiac disease, and an unusual one is de Grouchy syndrome.  In the present article, we reported an isolated case of 18p deletion in a 6-year-old female who for the first time reported to the hospital for diabetes mellitus type 1. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities. The aim of this case report is to increase the awareness about one of the genetic syndromes associated with diabetes mellitus. As the clinical features of de-grouchy syndrome is quite variable, it's presentation warrants prompt diagnosis for effective management, especially when associated with life threatened conditions, such as type 1 diabetes mellitus, special in need and severe growth retardation. Furthermore, genetic counseling for such patients and their families should be considered as a part of treatment itself.

Keywords: 18p deletion, dysmorphic features, growth deficiency, type 1 diabetes mellitus mental retardation

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References

De Grouchy J, Lamy M, Thieffry S, Arthuis M, Salmon CH. Dysmorphiecomplexe avec oligophrenie: Deletion des bras courts d’un chromosome 17-18. C R Acad Sci. 1963; 258:1028.

Turleau C. Monosomy. Orphanet J Rare Dis. 2008;3(4):18.

Jones KL: Deletion 18p syndrome. Smith's recognizable patterns of human malformation. 6th edition Philadelphia, Elsevier Saunders. 2006;60-61.

Spinner NB, Emanuel BS. Deletions and other structural abnormalities of the autosomes. Emery and Rimoin's principles and practice of medical genetics. Ed.: Rimoin DL, Emery AEH. 4th London; New York, Churchill Livingstone. 2002;1:1210-1211.

Bruno Maranda, Nicole Lemieux, Emmanuelle Lemyre. Familial deletion 18p, BMC Medical Genetics. 2006;7:.

Megha Goyal, Mayuri Jain, Sachin Singhal, Kirty Nandimath 18p Deletion syndrome: Case report with clinical consideration and management; Contemporary Clinical Dentistry. 2017;8(4):632.

Brenk CH, Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, et al. Towards mapping phenotypical traits in 18p - Syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. Eur J Hum Genet. 2007; 15:35–44.

Wester U, Bondeson ML, Edeby C, Annerén G. Clinical and molecular characterization of individuals with 18p deletion: A genotype-phenotype correlation. Am J Med Genet A. 2006; 140:1164–71.

Paul Arnold , What is de Grouchy Syndrome? Bright Hub.

Accession (9/9/2011)

Kenneth lyons Jones MD. Smith's recognizable patterns of human malformation 5th edition. W.B. saunders company. Philadelphia; 1997.

Miriam G. Wilson, Joseph W. Towner, Irene Forsman, Evelyn Siris, Robert L. Summitt. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)] .

Available: 1979https://doi.org/10.1002/ajmg.1320030207

Ilse Feenstra, Lisenka ELM. Vissers, Mirjam Orsel, Ad Geurts van Kessel, Han G. Brunner, Joris A. Veltman, Conny MA. Van Ravenswaaij‐Arts genotype–phenotype mapping of chromosome 18q deletions by high‐resolution array CGH: An update of the phenotypic map; 2007.

Nuijten Inge, Admiraal Ronald, Van Buggenhout Griet, Cremers Cor, Frijns Jean-Pierre; Smeets Dominique, van Ravenswaaij-Arts Conny. Congenital aural atresia in 18q deletion or De Grouchy Syndrome .Otology & Neurotology. Pediatric Otology. 2003; 24(6):900-906.

Perry Brian P, Sebold Courtney, Hasi Minire, Heard Patricia, Carter Erika, Hill Annice, Gelfond, Jonathon, Hale Daniel E, Cody Jannine D. Sensorineural hearing loss in people with deletions of 18q: Hearing in 18q- .Otology & Neurotology. 2014;35(5):782–786.

DOI: 10.1097/MAO.0000000000000363

Rebecca L. Schaub, Daniel E. Hale, Susan R. Rose, et al. The spectrum of thyroid abnormalities in individuals with 18q Deletions. The Journal of Clinical Endocrinology & Metabolism. 2005,90(4): 2259–2263.

Izquierdo NJ, Maumenee IH, Traboulsi EI. Anterior segment malformations in 18q- (de Grouchy) syndrome. Johns hopkins center for hereditary eye diseases, Wilmer Ophthalmological Institute, Johns HOPKINS Medical Institutions, Baltimore, MD.1993;14(2):91-4.

Schober E, Scheibenreiter S, Frisch H: 18p monosomy with GH-deficiency and empty sella: Good response to GH- treatment. Clin Genet. 1995;47(5):254- 256.