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• W3208174585 abstract "A female infant is born at 35 weeks, 4 days of gestation to a 29-year-old gravida 1, para 1 mother via cesarean section because of a footling breech presentation. The mother had received adequate prenatal care and had normal ultrasonography scans except for the finding of a 2-vessel cord and an infant who was small for gestational age. Maternal infectious laboratory findings are negative. Delivery is uneventful and Apgar scores at 1 minute and 5 minutes are 7 and 9, respectively. The infant’s birthweight is 1,920 g (0.35%, Z −2.69), birth length is 44.5 cm (1.46%, Z −2.18), and head circumference is 29.8 cm. (0.02%, Z −3.6)Around 85 minutes after birth, because of jitteriness, the infant’s blood glucose (BG) is measured and found to be 21 mg/dL (1.17 mmol/L). She is offered preterm infant formula 22 kcal/oz, of which, she took around 10 mL, and repeat BG is found to be 27 mg/dL (1.5 mmol/L). A peripheral intravenous catheter is placed and a 2 mL/kg bolus of 10% dextrose (D10) given, and an infusion of D10 in water at the rate of 80 mL/kg per day is started. Repeat BG is 88 mg/dL (4.9 mmol/L). On day 2 after birth, she starts having choking episodes and nonbilious emesis with feeding. Abdominal radiography shows a nonobstructive bowel gas pattern. She is transferred to the NICU and a nasogastric (NG) tube placed for feeding. Her BG levels remain stable with NG feedings, and she continues to be in room air with no evidence of respiratory distress. A sepsis evaluation is completed, with rule-out antibiotics (ampicillin and gentamycin) for 48 hours, with negative findings noted on culture. Echocardiography and head ultrasonography findings are normal, renal ultrasonography shows normal kidneys and a questionable bicornuate uterus. Physical examination findings are otherwise normal except for long eyelashes noted on the initial admission note.Family history was pertinent for the infant’s mother being suspected for a genetic disorder as an infant, but no molecular testing was ever done. She had required prolonged NICU stay and needed a gastrotomy tube (G-tube) for feeding intolerance as a child. She also had a history of cleft palate, bicornuate uterus, and esophageal reflux, and required esophageal dilation at 3 years of age. She received growth hormone shots in her childhood, but her final height was less than 5 feet. She is currently a healthy, independently functioning adult, eats by mouth and is not taking any medications. Figure 1A and 1B depict the facial profile of the infant and mother, respectively. Her mother (proband’s grandmother) was also suspected of having a genetic disorder, requiring tracheoesophageal repair and eye surgeries as an infant. The great-grandmother of the proband also had feeding issues and required multiple surgeries as a child but details were not available to review. Genetics consultation was requested early in admission to confirm the clinical suspicion of a genetic disorder and provide a molecular diagnosis for this family. The family history and pedigree are illustrated in Fig 2.Early genetic consultation was key in identifying the underlying condition in the infant. With the strong maternal family history of birth defects and anomalies, there was suspicion for either a chromosomal deletion/duplication syndrome or a single gene disorder. Single nucleotide polymorphism microarray was initially sent, which returned as normal. The differential for single gene disorders included Coffin-Siris syndrome (ARID1A, ARID1B, SMARCA2, SMARCA4, SOX11, PHF6), CHARGE syndrome (CHD7), Odho/FG syndrome (MED12), Cornelia de Lange syndrome (NIPBL, SMC1A, HDAC8, SMC3, RAD21), Alazami-Yuan syndrome (TAF6), and Kabuki syndrome (KMT2D, KDM6A). A gene panel comprising 42 genes was sent, which showed a heterozygous pathogenic mutation in RAD21 (c.1832T>A) consistent with a diagnosis of Cornelia de Lange syndrome (CdLS). The mother’s blood sample was then sent for targeted testing, which returned positive for the same mutation.The classic form of CdLS is attributed to a pathogenic mutation in NIPBL, which is a neurodevelopmental disorder characterized by a distinctive craniofacial dysmorphism, prenatal-onset growth restriction, upper limb reduction defects, and multisystemic involvement including cardiac, genitourinary, and gastrointestinal defects. (1)(2) The facial dysmorphism typically described in CdLS includes arched eyebrows with synophrys, long eyelashes, short nose, depressed nasal bridge, long and smooth philtrum, and low-set ears. Nonclassic forms have a milder phenotype and have been associated with pathogenic variants in RAD21, SMC3, HDAC8, and SMC1A. (2) Prenatal growth restriction is often noted in these patients and their height and weight remain below the 5th percentile through adulthood. Classic CdLS is associated with severe intellectual impairment but patients with nonclassic forms can be high functioning with some having normal IQs. (3)The gastrointestinal complications seen in CdLS have been well-described and commonly present with feeding intolerance and gastroesophageal reflux (GER). (4) In addition, pyloric stenosis (4%), intestinal malrotation (2%), and congenital diaphragmatic hernia (1%) have been described, which are major causes of morbidity and mortality in this population. (5)(6) There is a wide phenotypic variability in patients with CdLS with different gene mutations as well as within families with the same variants. Incomplete penetrance has also been reported and many of these patients can go undiagnosed without an underlying suspicion. RAD21 mutations have been described in very few patients with mild CdLS features, predominantly with GER disease but with no other structural anomaly. (7)(8)(9)(10)The infant continued to have frequent nonbloody and nonbilious emesis with NG feeds. An upper gastrointestinal series was performed on day 8 after birth, which showed severe GER, suggestive of a small sliding hiatal hernia. Postpyloric feeding was then initiated via a nasojejunal tube, but she continued to have emesis. On day 12 after birth, repeat abdominal radiography showed free air, which led to her being taken urgently to the operating room for exploratory laparotomy; she underwent a primary repair of duodenal perforation. A Ladd procedure was also completed due to intestinal malrotation identified during this procedure. After a few weeks of recovery, she continued to have emesis with nasojenunal feeding, and an exploratory laparotomy with G-tube placement was planned. During this procedure, dense adhesions were noted, which were mobilized. In addition, pyloric stenosis was visualized and repaired, and a G-tube was placed. No hemodynamic or respiratory complications were noted during her NICU stay. She was eventually transferred to the gastroenterology service and discharged from the hospital at 3 months of age.The infant continued to require multiple hospital visits for infections and gastrointestinal complications, including the need for esophageal dilations like her mother. She died at age 2 years because of sepsis resulting from aspiration pneumonitis.The infant described herein and her mother had the same pathogenic variant in RAD21 with some similarity in initial neonatal presentation of feeding intolerance and requirement for G-tube feeds. The finding of bicornuate uterus was also common between the daughter-mother duo, though not of critical importance in the neonatal period. This neonate did not have any other malformations that would have specifically raised concern for CdLS without the pertinent family history. There is a known prevalence and burden of genetic disorders in the NICU that requires high scrutiny which would otherwise be missed. This case highlights the importance of obtaining a comprehensive family history for risk assessment and an early genetic evaluation to guide management and therapeutic goals. (11) Furthermore, it emphasizes the intrafamilial and genotypic-phenotypic variability for patients with CdLS who have a RAD21 mutation. The clinical diagnosis of CdLS is inadequate and a molecular diagnosis is important to effectively counsel families about long-term outcomes. Early and prompt diagnosis guides surveillance and screenings for additional malformations and health problems, which includes performing echocardiography for cardiac defects, renal ultrasonography for genitourinary anomalies, timely gastrointestinal evaluation, and growth monitoring throughout childhood. Both NIPBL and RAD21-related CdLS are inherited in an autosomal dominant manner, with a 50% risk of inheritance if a parent has the same genetic change. In this family, only females were noted to be affected, however, males have an equal chance of inheriting this condition. Having a molecularly confirmed diagnosis of a genetic disorder opens up opportunities for prenatal counseling and testing for the extended family." @default.
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• W3208174585 date "2021-11-01" @default.
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• W3208174585 title "Like Mother, Like Daughter: Feeding Intolerance in the NICU" @default.
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• W3208174585 doi "https://doi.org/10.1542/neo.22-11-e774" @default.
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