Upper gastrointestinal congenital malformations Notes


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This Osmosis High-Yield Note provides an overview of Upper gastrointestinal congenital malformations essentials. All Osmosis Notes are clearly laid-out and contain striking images, tables, and diagrams to help visual learners understand complex topics quickly and efficiently. Find more information about Upper gastrointestinal congenital malformations:

Cleft lip and palate

Congenital diaphragmatic hernia

Esophageal web

Pyloric stenosis

Thyroglossal duct cyst

Tracheoesophageal fistula

NOTES NOTES UPPER GASTROINTESTINAL CONGENITAL MALFORMATIONS GENERALLY, WHAT ARE THEY? PATHOLOGY & CAUSES ▪ Upper gastrointestinal tract structural/ functional anomalies during embryonic development; present at birth CAUSES DIAGNOSIS DIAGNOSTIC IMAGING ▪ Prenatal ultrasound; MRI ▪ X-ray/CT scan ▫ Avoid if possible due to teratogenicity ▪ Genetic, environmental factors SIGNS & SYMPTOMS ▪ May be asymptomatic/complete dysfunction of gastrointestinal (GI), life incompatibility TREATMENT SURGERY ▪ See individual disorders OTHER INTERVENTIONS ▪ Nasogastric intubation CLEFT LIP & PALATE osms.it/cleft-lip-and-palate PATHOLOGY & CAUSES ▪ Group of congenital malformations in upper lip, oral cavity roof ▪ Result of improper fusion of facial bones, associated tissues TYPES ▪ Based on severity Cleft lip (CL, cheiloschisis) ▪ Unilateral, bilateral “hare lip” Cleft palate (CP, palatoschisis) ▪ Commonly uvula also split 360 OSMOSIS.ORG Combination (CLP, cheilopalatoschisis) ▪ Most severe forms; split alveolar ridge, uvula (cheilognathopalatoschisis) RISK FACTORS ▪ Other inherited genetic disorders (e.g. Patau syndrome, Stickler syndrome) ▪ Environmental teratogenic factors (e.g. intrauterine hypoxia, pesticides, anticonvulsant medication, folate deficiency) COMPLICATIONS ▪ Speech impediments, hearing issues/ recurrent otitis media, difficulty eating
Chapter 43 Upper Gastrointestinal Congenital Malformations SIGNS & SYMPTOMS ▪ Velopharyngeal insufficiency ▫ Inability to temporarily stop physical communication between oral, nasal cavities ▪ Dysphonia ▫ Air leaks to nasal cavity → hypernasal vocalization ▪ Dysarthria ▫ Abnormal structure increases speech difficulty → distorted word structure ▪ Nasal cavity infection ▫ Food trapped in nasal cavity → predisposes infection OTHER INTERVENTIONS ▪ Temporary prosthetic implants, until surgery ▪ Speech-language therapy ▪ Folate supplementation during pregnancy decreases risk DIAGNOSIS DIAGNOSTIC IMAGING Figure 43.1 A cleft hard palate in an infant. Prenatal ultrasound ▪ Evaluation of integrity of nares, upper lip, hard and soft palate ▪ 3D reconstruction and surface rendering allow for better diagnosis and help parents prepare psychologically MRI ▪ Evaluation of associated extra/intracranial abnormalities ▪ Prenatal MRI aids in confirmation and characterization/integrity of maxillary arch CT scan/X-ray ▪ Not typically used; 3D reconstructions can aid in surgical planning OTHER DIAGNOSTICS ▪ Clinically evident at birth TREATMENT SURGERY ▪ Surgical closure of cleft lip by three months of age ▪ Timing for surgical closure of palate is variable; usually done by one year of age Figure 43.2 A child with a unilateral, incomplete cleft lip. OSMOSIS.ORG 361
CONGENITAL DIAPHRAGMATIC HERNIA (CDH) osms.it/congenital-diaphragmatic-hernia PATHOLOGY & CAUSES ▪ Protrusion of abdominal viscera into chest cavity ▪ Results from abnormal development of diaphragm in utero ▪ High mortality rate ▪ Incomplete diaphragm formation → abdominal organs protrude into chest cavity → physical obstruction of heart, lung formation/function → pulmonary hypoplasia, surfactant deficiency, pulmonary hypertension, arrhythmia TYPES Bochdalek hernia ▪ Posterolateral diaphragmatic hernia; most common CDH ▫ Viscera protrude through posterolateral segment of diaphragm ▫ Left kidney, perinephric fat, stomach, small intestine Morgagni hernia ▪ Retrosternal, parasternal diaphragmatic hernia ▫ Viscera protrude through foramina of Morgagni (form sternocostal angle) CAUSES ▪ Genetic, environmental factors SIGNS & SYMPTOMS ▪ Dyspnea, tachypnea, central cyanosis, tachycardia, retractions, nasal flaring, decreased/absent breath sounds on affected side, scaphoid abdomen 362 OSMOSIS.ORG MNEMONIC: 5Bs Bochdalek hernia features Bochdalek hernia Big Back and medial, usually left side Baby Bad: associated with pulmonary hypoplasia DIAGNOSIS DIAGNOSTIC IMAGING Prenatal ultrasound ▪ Polyhydramnios ▪ Cardiomediastinal shift with possible abnormal cardiac axis ▪ Lack of visualization of normal stomach bubble ▪ Absent bowel loops in abdomen; stomach and small bowel in thorax ▪ Intrathoracic herniation of liver (seen in 85%, poor prognosis) ▪ Peristaltic bowel movements in thorax ▪ Reduced abdominal circumference X-ray ▪ indistinct diaphragm, opacification of hemithorax (typically left-sided) MRI ▪ Helpful in further assessment of pulmonary hypoplasia ▪ Measurement of fetal lung volumes
Chapter 43 Upper Gastrointestinal Congenital Malformations TREATMENT SURGERY ▪ Surgical repair of hernia OTHER INTERVENTIONS ▪ Planned delivery after week 37 of gestation → immediate intubation, mechanical ventilation ▪ Inhaled nitric oxide for severe pulmonary hypertension ▪ Nasogastric, pulmonary intubation Figure 43.3 A plain X-ray of a newborn demonstrating visible bowel loops in the thoracic cavity. ESOPHAGEAL WEB osms.it/esophageal-web PATHOLOGY & CAUSES ▪ Rare narrowing of esophagus due to thin membrane of esophageal tissues (mucosa, submucosa) ▪ Most commonly appear in lower third of esophagus ▪ Can be congenital/acquired ▪ May occur as solitary disease RISK FACTORS ▪ Plummer–Vinson syndrome ▫ Sideropenic dysphagia, iron-deficiency anemia, glossitis, cheilosis, esophageal webs COMPLICATIONS ▪ Food impaction, perforation by solid food/ esophageal probe insertion SIGNS & SYMPTOMS ▪ ▪ ▪ ▪ May be asymptomatic (if small) Dysphagia: difficulty in swallowing Odynophagia: painful swallowing Retrosternal pain: can be mistaken for angina pectoris DIAGNOSIS OTHER DIAGNOSTICS Fluoroscopy/barium swallow ▪ Visualized when esophagus is fully distended with contrast ▪ “Jet effect” of contrast being ejected distally from web TREATMENT OTHER INTERVENTIONS ▪ Endoscopic dilation via inflated balloon OSMOSIS.ORG 363
HYPERTROPHIC PYLORIC STENOSIS osms.it/hypertrophic-pyloric-stenosis PATHOLOGY & CAUSES ▪ Constriction of pylorus due to pyloric sphincter hypertrophy → gastric outflow obstructed ▪ Autosomal dominant/multifactorial RISK FACTORS ▪ Firstborn, biologically male, parents had hypertrophic pyloric stenosis, macrolide exposure COMPLICATIONS ▪ Dehydration, malnourishment, acid-base imbalance Fluoroscopy ▪ Delayed gastric emptying ▪ Elongated pylorus with narrow lumen ▪ Entrance to pylorus may be beak shaped TREATMENT SURGERY ▪ Pyloromyotomy OTHER INTERVENTIONS ▪ Rehydration ▪ Regulate acid-base status, correct electrolyte abnormalities SIGNS & SYMPTOMS ▪ Projectile nonbilious vomiting at/soon after birth ▪ Visible peristalsis ▪ Dehydrated, undernourished DIAGNOSIS DIAGNOSTIC IMAGING X-ray ▪ Distended stomach, minimal intestinal gas Ultrasound ▪ Modality of choice; but cannot exclude midgut volvulus ▪ Pyloric muscle thickness OTHER DIAGNOSITCS ▪ Abdominal olive palpable on physical examination 364 OSMOSIS.ORG Figure 43.4 An abdominal radiograph demonstrating a grossly dilated stomach, secondary to obstructive pyloric stenosis.
Chapter 43 Upper Gastrointestinal Congenital Malformations THYROGLOSSAL DUCT CYST osms.it/thyroglossal-duct-cyst PATHOLOGY & CAUSES ▪ Benign cyst; epithelium of unclosed thyroglossal duct ▪ Thyroid cells migrate from foramen cecum downward → leave thyroglossal duct → thyroid duct stays open → fills with mucus → cyst forms COMPLICATIONS OTHER DIAGNOSTICS ▪ Fluctuant mass palpable at a anterior midline/paramedian location ▪ Draining sinus may be visible TREATMENT SURGERY ▪ Surgical excision (Sistrunk procedure) ▪ Infection (spread from respiratory system), inflammation, discharging sinus with skin (secondary to inflammation/trauma), thyroid gland malformation (if thyroid cells remain in thyroglossal duct/cyst), extrathyroid thyroid carcinoma (from leftover thyroid cells) SIGNS & SYMPTOMS ▪ Painless mass in front of neck, moves when swallowing; inflammation, pain; dysphagia; dyspnea Figure 43.5 The clinical appearance of a thyroglossal duct cyst. There is a vague, fluctuant swelling in the midline of the neck. DIAGNOSIS DIAGNOSTIC IMAGING Ultrasound ▪ Fluctuant mass filled with anechoic fluid, thin walled, without vascularity CT scan ▪ Thin-walled, well-defined homogeneous, fluid dense lesions, anterior midline/ paramedian location ▪ May demonstrate capsular enhancement ▪ Sternocleidomastoid muscle may be displaced posteriorly/posterolaterally ▪ May be embedded in infrahyoid muscles Figure 43.6 A CT scan of the head and neck in the sagittal plane demonstrating a thyroglossal duct cyst adjacent to the hyoid bone. OSMOSIS.ORG 365
TRACHEOESOPHAGEAL FISTULA osms.it/tracheoesophageal-fistula PATHOLOGY & CAUSES ▪ Pathologic communication between trachea, esophagus ▪ Results from tracheoesophageal ridge fusion failure ▪ Occurs as congenital malformation/surgery complication (later in life) ▪ VACTERL association; see mnemonic COMPLICATIONS ▪ Atresia (due to hydrochloric acid accumulation), gastroesophageal reflux, dysphagia, frequent respiratory infections SIGNS & SYMPTOMS ▪ Hypersalivation/drooling, choking, vomiting, central cyanosis upon feeding DIAGNOSIS MNEMONIC: VACTERL Group of malformations with common, unknown cause Vertebral anomalies Anal atresia Cardiovascular anomalies Tracheoesophageal fistula Esophageal atresia Renal anomalies Limb defects TYPES Type A ▪ Middle esophageal segment missing Type B ▪ Proximal esophagus communicates with trachea Type C (most common) ▪ Distal esophagus communicates with trachea, proximal esophagus atresia Type D ▪ Proximal, distal esophageal segments communicate with trachea, middle segment atresia Type E (AKA Type H) ▪ Complete esophagus, additional part communicates with trachea 366 OSMOSIS.ORG DIAGNOSTIC IMAGING Chest X-ray ▪ Nasogastric tube coiled in proximal esophagus (usually sufficient for diagnosis) Fluoroscopy/Barium swallow ▪ If difficult to diagnose, may require contrast swallow study to visualize contrast passing into tracheobronchial tree ▫ Barium is contrast medium of choice (ionic iodinated medium can cause chemical pneumonitis) CT scan ▪ Useful for preoperative planning OTHER DIAGNOSTICS ▪ Inability to pass gastric tube ▪ Neonates drool, choke, vomit during first feeding TREATMENT SURGERY ▪ Surgical closing of pathologic communication, fusion of esophageal buds
Chapter 43 Upper Gastrointestinal Congenital Malformations Figure 43.7 An acquired tracheo-esophageal fistula. OSMOSIS.ORG 367

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