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A Newborn with Dandy-Walker Malformation and Aortic Coarctation/Dandy- Walker Malformasyonu ve Aort Koarktasyonu Olan Bir Yenidogan.

Introduction

Dandy-Walker malformation (DWM), a congenital anomaly of the posterior cranial fossa, characterized by the triad of cystic dilatation of the fourth ventricle, enlarged posterior fossa, and complete or partial agenesis or absence of the cerebellar vermis and hydrocephalus (1,2). The malformation occurs in approximately 1 per 25.000 live births, more frequently in girls than in boys (3). Usually, it is diagnosed in the prenatal period or early infancy, rarely in adulthood (3). Systemic anomalies in DWM may include cleft lip and palate, Polydactyly, craniofacial malformations, and cardiac abnormalities (4). Coarctation of the aorta and its associated cardiac anomaly are occasionally seen in DWM (5). Here, we report a newborn with DWM and aortic coarctation.

Case Report

Our case was the second child of non-consanguineous, healthy parents. He was delivered by elective Cesarean section at 39 weeks of gestation. There was no prenatal ultrasound diagnosis. His birth weight was 4600 g (>90th centile), length was 49 cm (75th centile), and occipital frontal circumference was 38 cm (96th centile). Physical examination indicated macrocephaly, frontal bossing, small palpebral fissures, apparently low-set ears, and a flat nasal bridge. During the examination, the patient's blood pressure in the upper extremity was 85/47 mmHg and 67/35 mmHg in the lower extremity. There was a systolic pressure gradient between the upper and lower limbs. His pulse rate was 140 beats/min and regular. A systolic murmur was heard at the right sternal border; pedal and femoral pulses were weak. Other systemic examinations were normal. With a poor general condition and respiratory dysfunction, the patient was intubated and was connected to a mechanical ventilator. Brain magnetic resonance imaging (MRI) showed dilatation of the lateral ventricles and the third ventricle, a thin corpus callosum, hydrocephalus, cerebellar hypogenesis and DWM (Figure 1). Echocardiography and MRI angiography showed a patent ductus arteriosus, moderate aortic valve dysplasia, and severe aortic coarctation distal to the left subclavian vessel (Figure 2). His abdominal ultrasound was normal. The karyotype was normal male 46, XY. To ensure the continuation of the ductus arteriosus patency, prostoglandin E1 infusion was started. His hydrocephalus was treated with a ventricular peritoneal shunt. At postoperative fourth day, sepsis and acute renal failure developed. Later, he developed respiratory dysfunction, multisystem organ failure and had a cardiorespiratory arrest. He died at the age of 9 days. Informed consent was obtained from the parents.

Discussion

The cause of DWM is unknown; it develops early in utero, during the embryonic stage (fifth-sixth week post conception) and is described as an error in the development of the rhombencephalon, leading to atresia of the foramina of the fourth ventricle and delayed opening of the foramen of Magendie (6). Various predisposing factors have been reported: viral infections (rubella, cytomegalovirus), toxoplasmosis and exposure to warfarin during the first trimester of pregnancy, maternal alcoholism and diabetes, chromosomal defects and consanguinity, and complicated monochorionic twins, especially in the smaller one (7-9). Systemic anomalies in DWM may include cleft lip and palate, Polydactyly, craniofacial malformations, and cardiac abnormalities (4). Coarctation of the aorta and its associated cardiac anomaly are occasionally seen in DWM (5). Sasaki-Adams et al. (10) studied 24 pediatric patients with DWM (10 male and 14 female) and found that cardiovascular abnormalities were the most frequently associated anomaly. Ten of 24 patients (41.7%) had patent ductus arteriosus, ventricular septal defect, atrial septal defect, transposition, hypoplastic right heart, or pulmonary artery stenosis. Also in Turkey, Guven et al. (11) reported a two-day-old male patient with DWM and pentalogy of Fallot.

Congenital cardiac defects associated with the syndrome often lead to poor prognosis resulting in death, and therefore, need a precise prenatal diagnosis (12). Here, we report a newborn with DWM and aortic coarctation. Our aim was to emphasize that a better and ready determination of the neurological malformation would have made the diagnosis of the aortic coarctation simpler and precocious, knowing that DWM can be associated with cardiac anomalies. These kinds of features should alert the clinician to consider extensive screening in patients for not only cerebral structures but cardiovascular abnormalities as well.

Ethics

Informed Consent: Patient informed constent was taken.

Peer-review: Externally and internally peer-reviewed.

Authorship Contributions

Surgical and Medical Practices: A.A., ST., A.B.A., TO., M.K.T., Concept: A.A., ST., A.B.A., T.O., M.K.T., Design: A.A., ST., A.B.A, T.O., M.K.T., Data Collection or Processing: A.A., ST., A.B.A., T.O., M.K.T., Design: A.A., ST., A.B.A, T.O., M.K.T., Analysis or Interpretation: A.A., ST., A.B.A., T.O., M.K.T., Design: A.A., ST., A.B.A, T.O., M.K.T., Literature Search: A.A., ST., A.B.A., T.O., M.K.T., Design: A.A., ST., A.B.A, T.O., M.K.T., Writing: A.A., ST., A.B.A., T.O., M.K.T., Design: A.A., ST., A.B.A, T.O., M.K.T.

Conflict of Interest: No conflict of interest was declared by the authors.

Financial Disclosure: The authors declared that this study received no financial support.

References

(1.) Ten Donkelaar HJ, Lammens M, Wesseling P, Thijssen HO, Renier WO. Development and developmental disorders of the human cerebellum. J Neurol 2003; 250: 1025-36.

(2.) Butts T, Green MJ, Wingate RJ. Development of the cerebellum: simple steps to make a "little brain". Development 2014; 141: 4031-41.

(3.) Hirsch JF, Pierre-Kahn A, Renier D, Sainte-Rose C, Hoppe-Hirsch E. The Dandy-Walker malformation. A review of 40 cases. J Neurosurg 1984; 61: 515-22.

(4.) Roth P, Cohen A. Management of hydrocephalus in infants and children. In: Tindall G et al. editors: The Practice of Neurosurgery, Baltimore, 1996, Williams&Wilkins, p.2707.

(5.) Akgul A, Babaroglu S, Bahar I, Bokesoy I, Birincioglu L, Cobanoglu A. An usual combination: aortic arch coarctation associated with Dandy-Walker variant. Int J Cardiol 2006; 113: 258-60.

(6.) Barkovich AJ, Kios BO, Norman D, Edwards MS. Revised classification of posterior fossa cysts and cyst like malformations based on the results of multiplaner MR imaging. AJR Am J Roentgenol 1989; 153: 1289-300.

(7.) Has R, Ermish H, Yuksel A, Ibrahimoglu L, Yildirim A, Sezer HD, et al. Dandy-Walker malformation: a review of 78 cases diagnosed by prenatal sonography. Fetal Diagn Ther 2004; 19: 342-7.

(8.) Venturini E, Magni L, Pucci G, Mazzinghi F. A late presentation of Dandy-Walker malformation and aortic coarctation. J Cardiovasc Med (Hagerstown) 2009.

(9.) Kontopoulos EV, Quintero RA, Salihu HM, Bornick PW, Allen MH. Dandy-Walker syndrome and monochorionic twins: insight into a possible etiological mechanism. J Matern Fetal Neonatal Med 2008; 21: 839-42.

(10.) Sasaki-Adams D, Elbabaa SK, Jewells V, Carter L, Campbell JW, Ritter AM. The Dandy-Walker variant: a case series of 24 pediatric patients and evaluation of associated anomalies, incidence of hydrocephalus, and developmental outcomes. J Neurosurg Pediatr 2008; 2: 194-9.

(11.) Guven AS, Oflaz MB, Kaya A, Bolat F, Gulsever O, Salk i, et al. Fallot pentalojisi'nin eslik ettigi dandy-walker varyasyonu: olgu sunumu. Cumhuriyet Tip Derg 2014; 36: 400-3.

(12.) Kolbel N, Wisser J, Kirmanavisius J, Bolthauser E, Stallmach T, Huch A, et al. Dandy-Walker malformation: prenatal diagnosis and outcome. Prenat Diagn 2000; 20: 318-27.

Ayse Anik (1), Semiha Terlemez (2), Abdullah Baris Akcan (1), Tuba Ozdemir (3), Munewer Kaynak Turkmen (1)

(1) Adrian Menderes University Faculty of Medicine, Department of Child Health and Diseases, Division of Neonatology, Aydin, Turkey

(2) Adnan Menderes University Faculty of Medicine, Department of Child Health and Diseases, Division of Child Cardiology, Aydin, Turkey

(3) Adnan Menderes University Faculty of Medicine, Department of Child Health and Diseases, Aydm, Turkey

Address for Correspondenee/Yazisma Adresi: Abdullah Baris Akcan MD, Adrian Menderes University Faculty of Medicine, Department of Child Health and Diseases, Clinic of Neonatology, Aydm, Turkey

E-mail : barisakc@hotmail.com

Presented in: 58th Turkish National Pediatrics Congress on October 22-26, 2014 in Belek, Antalya as an e-poster.

Received/Gelis Tarihi : 11.03.2015

Accepted/Kabul Tarihi : 15.05.2015

doi:10.4274/meandros.2163
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Title Annotation:Case Report / Olgu Sunumu
Author:Anik, Ayse; Terlemez, Semiha; Akcan, Abdullah Baris; Ozdemir, Tuba; Turkmen, Munewer Kaynak
Publication:Meandros Medical and Dental Journal
Date:Dec 1, 2017
Words:1333
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