Esophageal Web in a Down Syndrome Infant—A Rare Case Report
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children Case Report Esophageal Web in a Down Syndrome Infant—A Rare Case Report Nirmala Thomas 1, Roy J. Mukkada 2, Muhammed Jasim Abdul Jalal 3,* and Nisha Narayanankutty 3 1 Department of Pediatrics, VPS Lakeshore Hospital, 682040 Kochi, Kerala, India; [email protected] 2 Department of Gastromedicine, VPS Lakeshore Hospital, 682040 Kochi, Kerala, India; [email protected] 3 Department of Family Medicine, VPS Lakeshore Hospital, 682040 Kochi, Kerala, India; [email protected] * Correspondence: [email protected]; Tel.: +91-954-402-0621 Received: 8 November 2017; Accepted: 8 January 2018; Published: 11 January 2018 Abstract: We describe the rare case of an infant with trisomy 21 who presented with recurrent vomiting and aspiration pneumonia and a failure to thrive. Infants with Down’s syndrome have been known to have various problems in the gastrointestinal tract. In the esophagus, what have been described are dysmotility, gastroesophageal reflux and strictures. This infant on evaluation was found to have an esophageal web and simple endoscopic dilatation relieved the infant of her symptoms. No similar case has been reported in literature. Keywords: trisomy 21; recurrent vomiting; aspiration pneumonia; esophageal web 1. Introduction In 1866, John Langdon Down described the physical manifestations of the disorder that would later bear his name [1]. Jerome Lejeune demonstrated its association with chromosome 21 in 1959 [1]. It is the most common chromosomal abnormality occurring in humans and it is caused by the presence a third copy of chromosome 21 (trisomy 21). It is associated with multisystem involvement with manifestations that grossly impact the quality of life of the child. Esophageal web is a rare congenital anomaly of the esophagus. An esophageal web/ring is defined as a concentric, smooth, thin (3–5 mm) extension of normal esophageal tissue consisting of mostly mucosa and sub mucosa [2]. It typically causes partial obstruction in the middle to lower esophagus. Here, we report a rare case of esophageal web in a one-year-old child with trisomy 21 born to second degree consanguineous parents. 2. Case Report A one-year-old Omani female child presented to the emergency room with fever and severe respiratory distress. She was the sixth child of a second-degree consanguineous marriage and was found to have dysmorphic features at birth. Chromosomal analysis showed trisomy 21. Her cardiac echocardiogram was normal. Routine thyroid screens were normal. The baby had no respiratory problems in the initial newborn period. There was history of feeding difficulty since birth in the form of wet cough after feeding and the child had recurrent vomiting of unaltered food. The problems with feeding were accentuated when the semisolid feeds were commenced and she had multiple hospital admissions for vomiting and was documented to have had aspiration pneumonia on each of these admissions. She was treated symptomatically and discharged. She was presumed to have Children 2018, 5, 10; doi:10.3390/children5010010 www.mdpi.com/journal/children Children 2018, 5, 10 2 of 5 gastroesophagealChildren 2018, 5, 10 reflux and no further evaluation was performed. She has been immunized2 of to 5 date and has global developmental delay with severe failure to thrive. to have gastroesophageal reflux and no further evaluation was performed. She has been On examination, she was in severe respiratory distress with supra-sternal, intercostal, and subcostal immunized to date and has global developmental delay with severe failure to thrive. recessions. She had noisy breathing with copious secretions and drooling. She was anicteric, acyanotic, On examination, she was in severe respiratory distress with supra-sternal, intercostal, and but hadsubcostal moderate recessions. pallor. ThereShe had was noisy no clubbing, breathing edema, with copious or generalized secretions lymphadenopathy. and drooling. She was Theanicteric, child acyanotic, was tachypneic but had with mo aderate respiratory pallor. rateThere of 60was breaths/min. no clubbing, Oxygenedema, saturationor generalized was 78% in roomlymphadenopathy. air and 98% with 3 L oxygen/min. She was tachycardic with a heart rate of 120 beats/min. She was febrileThe child with was a temperaturetachypneic with of 39a ◦respiratoryC. Her blood rate pressureof 60 breaths/min. was 92/69 Oxygen mm Hg. saturation was The78% childin room had aair weight and of98% 5 kg, with head 3L circumference oxygen/min. ofShe 42 cmwasand tachycardic length of 68with cm. a Herheart developmental rate of evaluation120beats/min. showed She a developmental was febrile with age a temperature of six months of 39 as °C. opposed Her blood to apressure chronological was 92/69 age mm of one Hg. year for gross motor,The speech child had and a fine weight motor of functions. 5 kg, head Her circum weightference was wellof 42 below cm and the length first percentile of 68 cm. for Her her age. developmental evaluation showed a developmental age of six months as opposed to a She had good personal social interaction with gestures. chronological age of one year for gross motor, speech and fine motor functions. Her weight was Complete physical examination showed typical morphological features of trisomy 21. well below the first percentile for her age. She had good personal social interaction with gestures. NeurologicalComplete examination physical showed examination decreased showed tone typical and normal morphological deep tendon features reflexes. of Alltrisomy of her 21. pulses wereNeurological well felt. Heart examination sounds showed were normal.decreased There tone wereand normal no murmurs deep tendon and noreflexes. features All suggestiveof her of cardiacpulses failure.were well She felt. had Heart copious sounds oral were secretions normal. and There wet were cough no and murmurs was in and respiratory no features distress. Breathsuggestive sounds of were cardiac equal failure. bilaterally She had with copious coarse oral crepitations secretions and and wet rhonchi. cough and Abdomen was in respiratory was soft and non-tenderdistress. without Breath sounds organomegaly. were equal bilaterally with coarse crepitations and rhonchi. Abdomen was Thesoft and child non-tender was treated without with organomegaly. intravenous antibiotics and antiviral medications along with oxygen driven nebulisationsThe child was and treated intravenous with intravenous fluids. She wasantibiotics also given and protonantiviral pump medications inhibitors along intravenously. with oxygen driven nebulisations and intravenous fluids. She was also given proton pump inhibitors Her blood investigations showed raised C-reactive protein (CRP) with neutrophilic leukocytosis intravenously. Her blood investigations showed raised C-reactive protein (CRP) with neutrophilic and the blood cultures were negative. The chest X-ray showed extensive bronchopneumonia leukocytosis and the blood cultures were negative. The chest X-ray showed extensive (Figurebronchopneumonia1). A repeat cardiac (Figure echo 1). andA re apeat thyroid cardiac screen echo wereand a done thyroid which screen was were normal. done which She improved was symptomaticallynormal. She improved with therapy, symptomatically but began with having therap emesisy, but began again having when emesis oral feedsagain werewhen resumedoral withfeeds cereals. were resumed with cereals. Figure 1. Chest X-ray showing extensive bronchopneumonia. Figure 1. Chest X-ray showing extensive bronchopneumonia. Children 2018, 5, 10 3 of 5 Children 2018, 5, 10 3 of 5 A gastroenterology consultation was was taken in vi viewew of the recurrent vomiting and aspiration pneumonia withwith failure failure to thrive.to thrive. A barium A barium swallow swallow (Figure (Figure2) was done,2) was which done, showed which an obstructionshowed an obstructionat the lower at end the of lower the esophagus end of the withesophagus proximal with dilatation proximal and dilatation pooling and of barium. pooling of barium. Figure 2. Barium swallow showing an obstruction at the lower end of the esophagus with proximal Figure 2. Barium swallow showing an obstruction at the lower end of the esophagus with proximal dilatation and pooling of barium. dilatation and pooling of barium. She was fed exclusively via an orogastric tube for a few days to prevent further episodes of aspirationShe was and fed to help exclusively her lungs via clear an orogastricup in readiness tube forfor aanesthesia. few days Her to prevent pneumonia further improved episodes and of sheaspiration was taken and up to helpfor an her endoscopic lungs clear evaluation up in readiness under forgeneral anesthesia. anesthesia. Her pneumoniaOn endoscopy improved (Figure and 3), anshe esophageal was taken upweb for of an thickness endoscopic less evaluation than 5 mm under with general a pinpoint anesthesia. orifice Onwas endoscopy noted in (Figurethe lower3), esophagusan esophageal just web above of thickness the gastroes less thanophageal 5 mm withjunction, a pinpoint and orificewas dilated was noted using in thea controlled lower esophagus radial expansionjust above theballoon gastroesophageal from 8 to 12 mm. junction, There and was was only dilated mucosal using and a controlled sub mucosal radial involvement expansion with balloon no involvementfrom 8 to 12 mm.of the There muscular was onlyportion mucosal of the and esopha subgus. mucosal There involvement were no features with no of involvementesophagitis or of endoscopic findings suggestive of achalasia.