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CASE REPORT Table of Contents  
Ahead of print publication
Multidisciplinary intervention for patau syndrome patient with long-term survival: A case report of single institution-based detailed clinical management


1 Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
2 Department of Anatomy, Faculty of Medicine, University of Jeddah, Jeddah, Saudi Arabia

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Date of Submission26-Jun-2022
Date of Decision22-Sep-2022
Date of Acceptance29-Sep-2022
Date of Web Publication01-Dec-2022
 

  Abstract 


Trisomy 13 is a clinically severe condition wherein has a median life expectancy of 7 to 10 days, approximately 90% of patients end up dying during the 1st year of life. Among surviving births, it is the third most prevalent trisomy. It is significant as it is tied to a variety of central nervous, cardiac, and circulatory systems, urogenital system malformations, as well as a low survival rate. The factors that contribute to a longer survival rate are not fully understood. However, several studies have found that some factors such as genetic translocations or mosaicism, race, and female gender improve survivability. We describe a 14-year-old female with mosaic Patau syndrome (47, XX + 13) who experienced life longer than usual.

Keywords: Chromosomal abnormality, congenital anomaly, female, pediatrics, seizures, trisomy 13 syndrome


How to cite this URL:
Alyazidi AS, Alsubaie MA, Alghamdi MK, Aggad WS. Multidisciplinary intervention for patau syndrome patient with long-term survival: A case report of single institution-based detailed clinical management. J Microsc Ultrastruct [Epub ahead of print] [cited 2023 Feb 8]. Available from: https://www.jmau.org/preprintarticle.asp?id=362490





  Introduction Top


Trisomy 13 (also referred to as Patau syndrome) is a rare congenital malformation syndrome due to an additional copy of chromosome 13,[1] most commonly to nondisjunction in meiosis. The syndrome is characterized by a multisystem involvement of disorders which includes dysmorphic features and malformations. The survival rate in Patau syndrome patients is usually limited, and the majority of carriers do not survive through their 1st year of life.[2] The survival rate in a patient can reach 13% in the 1st year of life, whereas longer survival rates are observed in mosaic trisomy 13 but are also highly associated with intrauterine growth restriction, cardiac defects, psychomotor impairment, and central nervous system malformations. When a part of the cells is trisomic for chromosome 13, and the remaining cells are euploid, mosaic trisomy 13 develops.[2] Several reasonably large studies, detailed the poor prognosis of patients with Patau syndrome. In live-born patients, the median survival is 7 to 10 days, and 90% of them survive for less than a year.[3],[4] The syndrome has a prevalence of 1:10,000–20,000.[5] Unfortunately, there is no descriptive study regarding the prevalence rate of trisomy 13 in Saudi Arabia in the literature yet. However, anomalies of the central nervous system and cardiac abnormalities are primarily responsible for causing death.[6] Due to individuals' consistently poor prognoses despite treatment, intensive care for Patau syndrome is controversial. Moreover, in the most recent cohorts of patients, median survival only reaches 733 days despite aggressive management.[7] In the present study, we presented a novel case of Patau syndrome with an unusual life span. The case of a 14-year-old female with trisomy 13 experiencing multiple abnormalities.

Ethical statement

This study was approved by the Institutional Review Board of King Abdulaziz University Hospital (Ref. no.:448-21). Written consent was obtained from the patient's legal parents to publish this article and include the patient's data.


  Case Report Top


The patient is a 14-year-old female, the second child of two healthy, nonconsanguineous parents. Her mother and father were 25 and 27 years old, respectively. During her birth, the older child was otherwise normal, and the family history was unremarkable. Antenatal care began in the 4th month of pregnancy, and in the 5th month, the mother felt her fetal movements at first. The infant was delivered at 38 weeks of gestation by cesarean section. Birth weight was 3.1 kg, length 49 cm, and head circumference 65 cm. Global developmental delay was noticed from early infancy. On examination, it was discovered that the patient had several dysmorphic features compatible with Patau syndrome including cleft palate, microphthalmia, ocular hypotelorism, low-set ears, microcephaly, polydactyly, rocker bottom feet with convex soles, enlarged clitoris, limited fingers flexion, restrictive neck extension, and mouth opening [Figure 1]. She presented to the preanesthesia clinic for a preoperative assessment. The patient had been diagnosed with craniosynostosis, gastroesophageal reflux disease without esophagitis, aspiration pneumonia, and epilepsy. She had an atrioventricular septal defect shunt since birth and underwent a tracheostomy 6 months ago. The ASA physical status classification was 3. The overall status of the patient upon arrival was poor. The patient had been extensively investigated. A complete blood count was conducted and revealed the following abnormalities: mean corpuscular hemoglobin (MCH) 28.9 pg (reference range 32–36), mean corpuscular hemoglobin concentration (MCHC) 31.8 g/dL (reference range 32–36), automated neutrophils 49.7% (reference range 50–70), automated lymphocytes 41.3% (reference range 10–15), and automated eosinophils 0.09 K/μL (reference range 0.2–0.8). Albumin test result was 25.8 g/L (reference range 40.2–47.6). The valproic acid test result was 286 μmol/L (reference range 350–600). Her creatinine test result was 10 μmol/L (reference range 53–115), magnesium 1.02 mmol/L (reference range 0.7–1.0), and phosphate 2.19 mmol/L (reference range 0.81–1.58). Moreover, laboratory reports included an abnormal Activated partial thromboplastin time (APTT) test result (41.4 s) while prothrombin time and international normalized ratio test results were normal. Imagining, including a whole spine chest x-ray of the patient in an anteroposterior view revealing mild scoliosis at the dorsolumbar region with convexity to the right side. Vertebral heights are unremarkable. There were no effusion or segmentation abnormalities. There was a normal bowel gas distribution. Both lungs are unremarkable [Figure 2]. An axial brain computed tomography (CT) scan was conducted and compared to the previous examination dated January 2007 revealed a decrease in the volume of the previously enlarged lateral and third ventricle. Hyperdense foci in the previous examination in the lateral walls of the ventricles were mostly not visualized anymore. Transaxial CT scan revealed the abnormal configuration of the head, significant dilatation, and ballooning of the supratentorial ventricles with evidence of cerebrospinal fluid permeation, multiple small subependymal calcified foci, and the presence of a gross intracranial lesion. Her kidneys and bladder ultrasound examination revealed a normal morphology of the kidney but evidence of dilatation on the renal pelvis was present on either side. Her right lower ureter was also mildly dilated. The barium swallow test did not reveal any relevant findings. Her medication history included the use of phenytoin, phenobarbitone, sodium valproate tablets, and syrup as part of her epilepsy management. Other medications and solutions are used to control various abnormalities. Surgical history included multiple operations where ventriculostomy was part and this patient continues to follow-up with a multidisciplinary team.
Figure 1: The patient's clinical presentation upon admission. She seemed in a poor condition with an inserted PEG tube. Hypotelorism and an eye deviation were notable. Dysmorphic features consistent with Patau syndrome. PEG: Percutaneous endoscopic gastrostomy

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Figure 2: (a) A whole spine chest X-ray of the patient in an anteroposterior view revealing mild scoliosis at the dorsolumbar region with convexity to the right side.(b) Vertebral heights are unremarkable. There were no effusion or segmentation abnormalities. There was a normal bowel gas distribution. Both lungs are unremarkable (R: Right view, L: Lateral view)

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  Discussion Top


Patau syndrome is a life-threatening condition attributed to a rise in the number of spontaneous abortions and a poor prognosis for surviving births with the majority dying within the first few days after birth. Trisomy 13 patients have a 7-day average survival rate, a 30% chance of surviving for a month, and an 8.6% chance of surviving for a year.[8] There have been a few reported complete trisomy 13 cases[9],[10],[11],[12],[13],[14],[15] and mosaic trisomy 13[5],[16],[17],[18] that have survived for more than 10 years. Nonetheless, no apparent relationship exists between mosaicism level, phenotypic severity, and possible survival at birth.[17] Meanwhile, our patient who has mosaic karyotype, unexpectedly lived for more than 14 years while receiving aggressive medical care and repeated hospitalization. Microphthalmia, cleft lip and palate, and polydactyly are the triad of trisomy 13.[8] Our patient showed dysmorphic features compatible with trisomy 13 such as cleft palate, microphthalmia, ocular hypotelorism, prominent glabellae, low-set ears, and microcephaly. However, cleft lip and micrognathia were absent. Common extremity abnormalities which were documented in the literature[19] including polydactyly, rocker bottom feet, restricted finger flexion, and convex soles were also found in our case. She also experienced seizures from birth. This came in consistence with the literature findings where Spagnoli et al.[20] concluded in a cohort study that patients with Patau syndrome have a high prevalence of spasms. He also reported that Patau syndrome is associated with a 25%–50% prevalence of epilepsy. However, it is rare to find detailed electroclinical descriptions and requires further investigations. Finally, we compared our patient's clinical characteristics to those of other long-surviving Patau syndrome patients [Table 1] and [Figure 3] and illustrated her clinical characterization. According to Tunca et al.,[6] nonlethal congenital defects such as brain, cardiac, urogenital, and so on, as well as intensive medical treatment, might be an attribute in patients with trisomy 13 living a long life. We believe that the lack of significant brain and cardiac abnormalities and aggressive medical care contributed to our patient's long survival. This case was the longest-surviving patient with trisomy 13 reported in Saudi Arabia, and the third-longest with mosaic karyotype of trisomy 13 in the previous literature.
Figure 3: (a) Displaying average ages of the cases obtained from the literature with the mean age calculated. (b) Displaying gender distribution of the cases obtained from the literature

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Table 1: Clinical characteristics of nine long-surviving Patau syndrome patients compared to our case

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  Conclusion Top


Trisomy 13 is frequently associated with a poor prognosis. This case highlights the significant disabilities that can be expected from a child with Patau syndrome with long survival. In addition, physicians should be aware that long-term survival is possible in cases where there are no serious important organ defects. Understanding factors linked to prolonged survival is important for predicting prognosis and counseling families who had infants diagnosed with trisomy 13.

Key points

  • To detail the medical intervention toward a rare case of long survival patient with Patau syndrome and understand the role and duties of its multidisciplinary team
  • Intensive medical care and repeated hospitalization are still globally controversial, but it could still prolong patients' survival rate alongside multiple determinants which include genetic translocations or mosaicism, race, and female gender
  • Patients with Patau syndrome commonly present with a variety of anomalies of the cardiovascular, urogenital, and central nervous systems
  • Premarital screening and genetic counseling should expand to identify and decrease the number of hereditary syndromes, especially in countries with higher consanguinity rates and parents' awareness must be raised to reduce the emotional and financial burden on the family and health system.


Acknowledgment

The authors would like to express their special thanks of gratitude to the patient and her family for giving us the opportunity to conduct this research. Outcomes from such research can potentially increase scientific knowledge and can improve patient care. Therefore, the patient and her family deserve our highest gratitude. We are also grateful to Prof. Gamal S. Kamal for his profound assistance, and finally to every health-care worker and staff working on the patient's condition and contributing to recording her findings. Finally, the completion of this undertaking could not have been possible without the facilitation of the Faculty of Medicine at King Abdulaziz University and its staff.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Long P, Liu Z, Wu B, Chen J, Sun C, Wang F, et al. Generation of an induced pluripotent stem cell line from chorionic villi of a Patau syndrome spontaneous abortion. Stem Cell Res 2020;45:101789.  Back to cited text no. 1
    
2.
Albar RF, Alghamdi MS, Almasrahi AM, Aldawsari MK, Aljahdali FF, Alhwaity AS. A six-year-old child with mosaic trisomy 13. Cureus 2021;13:e18346.  Back to cited text no. 2
    
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Peroos S, Forsythe E, Pugh JH, Arthur-Farraj P, Hodes D. Longevity and Patau syndrome: What determines survival? BMJ Case Rep 2012;2012:bcr0620114381.  Back to cited text no. 3
    
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Wyllie JP, Wright MJ, Burn J, Hunter S. Natural history of trisomy 13. Arch Dis Child 1994;71:343-5.  Back to cited text no. 4
    
5.
Morán-Barroso VF, Cervantes A, Rivera-Vega MD, Del Castillo-Moreno A, Moreno-Chacón A, Mejía-Cauich E, et al. Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event. Mol Genet Genomic Med 2021;9:e1762.  Back to cited text no. 5
    
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Abuzenadah A, Al-Saedi S, Karim S, Al-Qahtani M. Role of overexpressed transcription factor foxo1 in fatal cardiovascular septal defects in Patau syndrome: Molecular and therapeutic strategies. Int J Mol Sci 2018;19:E3547.  Back to cited text no. 6
    
7.
Tsukada K, Imataka G, Suzumura H, Arisaka O. Better prognosis in newborns with trisomy 13 who received intensive treatments: A retrospective study of 16 patients. Cell Biochem Biophys 2012;63:191-8.  Back to cited text no. 7
    
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Duarte AC, Menezes AI, Devens ES, Roth JM, Garcias GL, Martino-Roth MG. Patau syndrome with a long survival. A case report. Genet Mol Res 2004;3:288-92.  Back to cited text no. 8
    
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Iliopoulos D, Sekerli E, Vassiliou G, Sidiropoulou V, Topalidis A, Dimopoulou D, et al. Patau syndrome with a long survival (146 months): A clinical report and review of literature. Am J Med Genet A 2006;140:92-3.  Back to cited text no. 9
    
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Marden PM, Yunis JJ. Trisomy D1 in a 10-year-old girl. Normal neutrophils and fetal hemoglobin. Am J Dis Child 1967;114:662-4.  Back to cited text no. 10
    
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Singh KS. Trisomy 13 (Patau's syndrome): A rare case of survival into adulthood. J Ment Defic Res 1990;34 (Pt 1):91-3.  Back to cited text no. 11
    
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Tunca Y, Kadandale JS, Pivnick EK. Long-term survival in Patau syndrome. Clin Dysmorphol 2001;10:149-50.  Back to cited text no. 12
    
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Zoll B, Wolf J, Lensing-Hebben D, Pruggmayer M, Thorpe B. Trisomy 13 (Patau syndrome) with an 11-year survival. Clin Genet 1993;43:46-50.  Back to cited text no. 13
    
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Imataka G, Hagisawa S, Nitta A, Hirabayashi H, Suzumura H, Arisaka O. Long-term survival of full trisomy 13 in a 14 year old male: A case report. Eur Rev Med Pharmacol Sci 2016;20:919-22.  Back to cited text no. 14
    
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Redheendran R, Neu RL, Bannerman RM. Long survival in trisomy-13-syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old. Am J Med Genet 1981;8:167-72.  Back to cited text no. 15
    
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Fogu G, Maserati E, Cambosu F, Moro MA, Poddie F, Soro G, et al. Patau syndrome with long survival in a case of unusual mosaic trisomy 13. Eur J Med Genet 2008;51:303-14.  Back to cited text no. 16
    
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Delatycki M, Gardner RJ. Three cases of trisomy 13 mosaicism and a review of the literature. Clin Genet 1997;51:403-7.  Back to cited text no. 17
    
18.
Reardon PC, Greenstein RM, Howard RO, Gianacopolos EK, Breg WR. Unusual mosaicism of de novo structural abnormalities and ocular anomalies in a male with 13 trisomy syndrome. Am J Med Genet 1981;10:113-8.  Back to cited text no. 18
    
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Petry P, Polli JB, Mattos VF, Rosa RC, Zen PR, Graziadio C, et al. Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil. Am J Med Genet A 2013;161A: 1278-83.  Back to cited text no. 19
    
20.
Spagnoli C, Kugathasan U, Brittain H, Boyd SG. Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study. Brain Dev 2015;37:704-13.  Back to cited text no. 20
    

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Correspondence Address:
Maha K Alghamdi,
College of Medicine, King Abdulaziz University, Jeddah
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jmau.jmau_54_22



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