Association between Seckel Syndrome and primitive peritonitis: Rare association in a rare syndrome

Ahmed Hajer | Charieg Awatef | Tarchella Dorra | Ben Ahmed Yosra | Maalouch Abir | Nouira Faouzi | Jouini Riadh | Jlidi Said |

La tunisie chirurgicale - 2018 ; Vol 2018

Resumé

Seckel syndrome is a very rare autosomal recessive disorder characterized by growth retardation, severe microcephaly with a bird-headed like appearance and mental retardation [1]. The prevalence of this condition is lower than 1:1000000 [2].We found no reports about digestive manifestations or peritonitis in this syndrome.

Here we present a case report about a 4 years old girl having Seckel syndrome. She was operated for peritonitis. Surgery exploration concluded to a peritonitis by diffusion. The right colon was sphacelated. A colostomy was performed. Bacteriological examination of stools has shown no pathogens. Subsequently, our patient developed abdominal infection symptoms and was reoperated. We found multiple areas of necrosis of the colon separated with normal intestine wall, and cholecystitis. Partial colectomy, cholecystectomy and colostomy were underwent. Despite of a large infectious search, we found no bacteriological evidence. We prescribed a large spectrum antibiotherapy using imipeneme, colimycin, teicoplanin and amikacin   in order to cover Klebsielle pneumonia ESBL. However, the infant developed a severe sepsis and died 10 days after.

The pathological findings were inflammation of the colic wall with no specific signs of vascularitis.

Seckel syndrome is a rare autosomal recessive disorder characterized by severe psychophysical deficiency and unique physiognomy. Primitive peritonitis by digestive diffusion may be caused by immunodeficiency, vascularity or being idiopathic in this rare syndrome. That’s why more studies concerning digestive features should be performed in Seckel syndrome.  

Mots Clés

Seckel syndrome; Microcephaly; Peritonitis; Digestive Diffusion

Introduction :

Seckel syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and mental retardation. Typically, intra-uterine growth restriction is first identified in utero with a subsequent diagnosis of dwarfism [2]. The facial features are distinctive and include a prominent nose with micrognathia and a receding forehead resulting in a “bird-like” appearance [1].

In addition, other systemic manifestations associated with Seckel syndrome include Fanconi anemia, leukemia, chronic nephritis, digenesis of cerebral cortex and corpus collosum, as well as a vast spectrum of skeletal defects [3, 4].

The first genetic defect found to be associated to SS (SS-type 1; OMIM 210600) has been the c.2101A>G synonymous (p.G674G) mutation in the gene encoding for the ataxia-telangiectasia and RAD3-related protein (ATR), a phosphatidylinositol 3-kinase like kinase playing a key role in the DNA damage response[5, 6]. Its incidence is less than 1 in 10.000 live births with 25% chances of recurrence in subsequent siblings. Nearly 60 cases have been reported till date [7].

 We found no publications about digestive manifestations related to Seckel Syndrome.

Article

2. Case report:

A 4 years old girl issued from a consanguineous marriage with low birth weight. Seckel syndrome was diagnosed on birth based on physical symptoms. She has growth mic- rocephaly, narrow face, micrognathia and protruding nose with a bird-headed like appearance. Then she developed growth and mental retardation (Figure 1).

Figure -1- Photo showing “bird headed” like appearance.

 

The patient presented diarrhea. Three days later, she developed an abdominal distention, fever and abdominal pain. Ultrasonography has shown peritonitis. Surgery exploration found an abundant intra-peritoneal effusion, intact appendix, necrosis of the right colon with pre-perforated areas (figures 2-3).

Figure -2- Normal Appendix

Figure -3- Necrosis of areas of right colon

 

We performed right colectomy with terminal colostomy and ileostomy.

Bacteriological examination of stools has found no pathogens. Four days late, operatory wound became inflammatory and stomy showed necrosis (figure 4).

Figure -4- Necrosis of part the stomy

 

Surgery was indicated and we found multiple areas of necrosis of the colon separated with normal intestine wall, and cholecystitis. Partial colectomy, cholecystectomy and colostomy were underwent.

We prescribed a large spectrum antibiotherapy   using imipeneme, colimycin, teicoplanin and amikacin   in order to cover Klebsielle pneumonia ESBL which was identified in the peritoneal sample.

However, the infant developed a severe sepsis.

The pathological findings were inflammation of the colic wall with no specific signs of vascularitis. 

Figure -5- Necrotic areas of the colon separated with normal intestinal wall.

Conclusion:

Seckel syndrome is a rare autosomal recessive disorder characterized by severe psychophysical deficiency and unique physiognomy.

Primitive peritonitis may be caused by immunodeficiency, vascularitis or being idiopathic.

More researches about digestive features should be performed in Seckel syndrome.

 

Références

1. Brendan F, Mark O’ D, Karen C, Sarah K, Patrick S. Brain and Development Neuropathology of fetal stage Seckel syndrome: A case report providing a morphological correlate for the emerging molecular mechanism 34 (2012) 238–243.

2. Seckel Syndrome and Pregnancy: The Importance of a Multidisciplinary Team Meeting. Original research article Journal of Obstetric, Gynecologic & Neonatal Nursing, Volume 42, Supplement 1, June 2013, Pages s100-s101

3. Shanske A, Caride DG, Menasse-Palmer L, Bogdanow A, Marion RW. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet 199; 70: 155 –158.

4.. Medhat F, Guirgis MD, Byron L. Lam, MD and Cleve W, Howard, MD. American Journal of ophthalmology: Ocular Manifestations of Seckel Syndrome; Volume 132, issue 4? October 2001, Page 596-597.

5.DanielaS,DarioB,SaraR,MatteoB,DanielaP,FrancescoBr,StefanoC, Mirko P. Exploring Splicing-Switching Molecules for Seckel Syndrome; Biochemical et Biophysical Acta (BBA) - Molecular Basis of Disease. Volume 1863, Issue 1, January 2017, Pages 15-20.

6. Anne M, Casper, Sandra G, Durkin, Martin F, Thomas W, Glover. AHJ: Chromosomal instability at common Fragilies Sites in Seckel Syndrome; Volume 75, issue 4, October 2004, pages 654-660.

7. Anju G, Dinesh S, Nidhi B, Ramneesh G, Sheerin S, Harminder K. Brazilian Journal of Anesthesiology: Palatoplasty in a patient with Seckel syndrome: an anesthetic Challenge; Volume 63,Issue3,May-June 2014, Pages 216-217.