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A Newborn with Rare Mckusick Syndrome Alia Halim, Tehreem Afzal, Sana Fatima and Sadia Riaz

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A Newborn with Rare Mckusick Syndrome Alia Halim, Tehreem Afzal, Sana Fatima and Sadia Riaz CASE REPORT A Newborn with Rare McKusick Syndrome Alia Halim, Tehreem Afzal, Sana Fatima and Sadia Riaz ABSTRACT McKusick-Kaufman Syndrome (MKKS) is one of rare syndromes which presents as polydactyly, hydrometrocolpos (HMC) and cardiac anomalies. This autosomal recessive disorder occurs due to mutations in MKKS gene. It is characterised predominantly by genitourinary and digit abnormalities. The diagnosis can be made on clinical findings; however, it is important to rule out Bardet-Biedl syndrome before making the definitive diagnosis. Treatment of MKKS revolves around treatment of its manifestations and complications. We hereby report a case of neonate with features of MKKS. Key Words: McKusick-Kaufman Syndrome. Hydrometrocolpos. Polydactyly. INTRODUCTION facial dysmorphism. Heart rate was 144/minute, o McKusick-Kaufman Syndrome (MKKS), an autosomal respiratory rate was 68/minute, temperature 98 F, with recessive disorder, is a triad of hydrometrocolpos fair pulses and perfusion. She had post-axial polydactyly (HMC), polydactyly and cardiac abnormalities.1 Neonatal in all four limbs (Figures 1a-c). Abdomen was grossly HMC is abnormal collection of mucous and other distended. A large midline cystic mass was palpable secretions in vagina and uterus due to vaginal atresia or extending up to epigastric region. There was no imperforate hymen. HMC occurs due to mullerian visceromegaly. Cardiac examination was normal. duct obstruction or agenesis.2,3 It can be diagnosed On genital examination, both labias were normal in size antenatally on ultrasound or after birth. Ultrasound with vagina atresia. A single urogenital orifice was usually shows large cystic mass in the abdominopelvic identified, similar to urethra. A soft tube was passed and region that is normally present behind the bladder.2 initially cloudy opalescent fluid came out followed by Polydactyly is a feature in almost 90% of the cases that clear color urine. Anal opening was normal. Provisional is usually post-axial. Cardiac abnormalities include diagnosis of HMC was considered. atriventricular septal defects, atrial septal defect, patent X-ray abdomen showed large soft tissue density mass ductus arteriosus, ventricular septal defect and hypoplastic left heart.2 Renal complications like involving pelvis and central part of abdomen, displacing hydronephrosis can be present.4 Gastrointestinal gut loops superiorly (Figure 2). complications are rare. Mostly, it occurs in females. In males, it is characterised by polydactyly, cardiac anomalies and genitourinary malformations (hypospadias, chordae and cryptorchidism).5 CASE REPORT We report a case of a newborn female baby, born at 37 Figure 1: Post-axial polydactyly in both upper and lower extremities. weeks of gestation via cesarean section to a 28-year G3P2A1 woman. Baby had immediate cry after birth. Apgar score was 7 and 8 at 1 and 5 minutes, respectively. Mother had regular antenatal visits. Antenatal scan at 36 weeks of gestation revealed bilateral hydronephrosis, a thick walled cystic mass arising from pelvis extending to above umbilical region measuring 9.1 x 6.9 x 7.3 cm. On post-natal examination, she weighed 3.2 kgs, head circumference was 33 cm and length of 51 cm with no Department of Neonatology, Children Hospital, PIMS, Islamabad. Correspondence: Dr. Alia Halim, Department of Neonatology, Children Hospital, PIMS, Islamabad. E-mail: [email protected] Figure 2: X-ray abdomen showing soft tissue mass in centre of abdomen Received: October 31, 2017; Accepted: January 20, 2018. and pelvis. S140 Journal of the College of Physicians and Surgeons Pakistan 2018, Vol. 28 (Special Supplement 2 of Case Reports): S140-S142 A newborn with rare McKusick syndrome atrioventricular canal defects, ventricular septal defect, patent ductus arteriosis, tetralogy of Fallot and hyploplastic left heart. Post-axial polydactyly is associated in 90% of cases.2 Additional digit can be present on the ulnar side of hand and fibular side of foot. Other less common anomalies include gastrointestinal Figure 3: CT scan showing large cystic area arising from pelvis behind the malformation like imperforate anus, rectovaginal or urinary bladder with hydrometrocolpos and moderate hydronephrosis of both vesicovaginal fistula, and Hirschsprung's disease. kidneys. Abnormalities of eyes are also encountered. HMC and Neonatal abdominal ultrasound demonstrated a big post-axial polydactyly in a non-Amish female, without cystic mass with two communicating components behind features of overlapping syndromes, are sufficient for the bladder and bilateral hydronephrosis, and possibility clinical diagnosis of MKKS. of HMC was given. CT scan showed a large tubular Some of these signs are also present in a similar structure arising from vagina seen between urinary autosomal recessive disorder called Bardet-Biedl bladder anteriorly and rectum posteriorly, reaching Syndrome (BBS).6 The features of BBS include obesity, superiorly to above umbilical region. It measured 7.2 x retinitis pigmentosa (rod and cone dystrophy), post-axial 3.7 x 5.1 cm. It appeared to be fluid-filled hyperplastic polydactyly, mental retardation, developmental delay, uterus with associated HMC (Figure 3). and urogenital anomalies (hypogonadism).5,7 Patients Echocardiography revealed structurally and functionally with BBS usually develop night blindness by seven to normal heart. Renal functions were normal. Polydactyly eight years with overt blindness in their teens. As some with hydronephrosis and HMC led to final diagnosis of of these features are not seen at birth, it can be difficult MKKS. to differentiate between the two syndromes in infant and early childhood.8,9 The diagnosis of MKKS is done in However, we could not carry out genetic studies due to early childhood compared to BBS, which is often lack of facilities in our setup. The patient is due for delayed till early teens. All cases of MKKS should be re- corrective surgery once her weight gain is achieved. evaluated for retinitis pigmentosa and other signs of BBS in the teenage years.9 DISCUSSION Other syndromes, like Ellis-Van Creveld Syndrome, MKKS is an autosomal recessive disease. It was present with polydactyly, acromelia, and cardiac discovered in Amish population who were found to be anomalies.8 Pallister-Hall Syndrome, characterised by homozygous for pathogenic variants of MKKS.1,2 The post-axial polydacytly, bifid epiglottis, imperforate anus disease occurs as a result of mutation at 20p 12 and hypothalamic hemartoma with pituitary insufficiency, location.6 Mutation of this gene leads to formation of may also be considered among the differential defective protein, which produces anomalies of limbs, diagnosis.8 Pre-natal diagnosis of MKKS is difficult due heart, and reproductive system. to overlapping clinical features of other associated The incidence of congenital HMC varies from 0.0014 to clinical syndromes.5,7 0.1% in full-term newborn females.5 It is caused by Treatment of manifestations include surgical repair of anatomical malformations of the genital tract.6,7 HMC is the obstruction causing HMC and drainage of the caused by dilatation of vagina and uterus as a result of accumulated fluid, treatment for polydactyly and accumulation of cervical secretions from maternal congenital heart defects.9 Vaginoplasty or urethroplasty estrogen stimulation. Congenital HMC can occur as a should be considered for repair of urogenital anomaly. result of failure of distal third of vagina (vaginal MKKS is one of the rare syndromes which should be agenesis), to develop a transvers vaginal membrane, or considered in differential diagnosis in female neonates 5-7 an imperforate hymen. presenting with abdominal distention. These patients HMC can present at birth as a large cystic abdominal should be followed up in infancy and teenage for signs mass, which at times can be clinically obvious and of BBS, as some of these patients may be affected by verified by ultrasound scan. It can be large enough to BBS. cause pressure effects, leading to intestinal obstruction, urinary outflow obstruction resulting in hydroureter and REFERENCES hydronephrosis, as seen in our case, too. It can cause 1. McKusick VA, Bauer RL, Koop CE, Scott RB. Hydro- elevation of diaphragm with resultant breathing metrocolpos as a simply inherited malformation. JAMA 1964; difficulties. 189:813-6. 2. Tsai HF, Wu MH, Cheng YC, Chang CH, Chang FM. Prenatal The cardinal features of MKKS are polydactyly, HMC ultrasonography and postnatal follow-up of a case of 7 associated with cardiac anomalies. Congenital heart McKusick-Kaufman syndrome. Taiwan J Obstet Gynecol 2014; defects, seen in 10-20% of reported cases, include 53:241-4. Journal of the College of Physicians and Surgeons Pakistan 2018, Vol. 28 (Special Supplement 2 of Case Reports): S140-S142 S141 Alia Halim, Tehreem Afzal, Sana Fatima and Sadia Riaz 3. Vitale V, Cigliano B, Vallone G. Imperforate hymen causing putative chaperonincauses Mc Kusick -Kauffman syndrome. congenital hydrometrocolpos. J Ultrasound 2013; 16:37-9. Nat Genet 2000; 25:79-82. 4. Sharma D, Murki S, Pratab OT, Irfan GM, Kolar G. A case of 7. Vitale V, Cigliano B, Vallone G. Imperforate hymen causing hydrometrocolpos and polydactyly. Clin Med Insight Pediatr congenital hydrometrocolpos. J Ultrasound 2013; 16:37-9. 2015; 9:7-15. 8. Al-Khenaizan S, Al-Sannnaa N, Teebi AS. What syndrome is 5. Imen K, Rodhouane A, Nadia B J, Wafa B, Meriem C, Moez BA, this? Chondroectodermal dysplasia: The Ellis-van Creveld et al. Neonatal case of Mc Kusick - Kaufman syndrome Difficulty syndrome. Pediatr Dermatol 2001; 18:68-70. of diagnosis and management. J Neonatal Biol 2016; 5: 1000235. 9. Yewalker SP, Yadav VK, Khadse GJ. The McKusick-Kaufmann 6. Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Hydrometrocolpos-polydactyly syndrome: A rare case report. Baxevanis AD, Barr M, et al. Mutation of a gene encoding a Indian J Radiol 2013; 23:183-5. S142 Journal of the College of Physicians and Surgeons Pakistan 2018, Vol. 28 (Special Supplement 2 of Case Reports): S140-S142.
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