Esophageal Conditions😍

Anorectal malformation associations

1. VACTERL
• Vertebral, Anorectal, Cardiac (m/c), Tracheoesophageal fistula, Renal, Limb defects

2. CURARINO syndrome
• ARM + Sacrococcygeal teratoma

Similar

• Goldenhar Syndrome
• Oculoauriculovertebral spectrum
• Features
• Hypoplasia of:
• Malar
• Maxillary
• Mandibular regions
• Macrostomia
• Microtia
• Preauricular and facial skin tags
• Hemivertebrae
• Usually cervical
• Mental handicap
• Cardiac, renal, and CNS anomalies
• Ocular
• Dermoid
• Upper lid notching / coloboma
• Microphthalmos
• Disc coloboma

• Definition: Metaplasia.

• Change: Normal squamous epithelium → intestinal columnar epithelium.

• Histology:
• Presence of goblet cells.
• Contain acidic mucin.
• Stains positive for Alcian blue (appears blue).

• Significance: 
• Precancerous condition for adenocarcinoma of the esophagus.

Characteristics

• M/C motility disorder.

Cause

• Failure of LES to relax
• d/t loss of ganglion cells in myenteric & Auerbach plexus

• Loss of relaxers: VIP and nitric oxide.

• Acetylcholine continues to work, causing constant contraction.

Clinical Features

• Triad: Dysphagia, regurgitation (Earliest) & weight loss.

• Dysphagia:
• Initially: Liquids > Solids.
• Later: Solids > Liquids.

• Heart burn.

• Nocturnal coughing.

• Post prandial choking.

• Complication: Aspiration pneumonitis (m/c).

Investigations

• Barium swallow: 
• Bird beak sign/ Rat tail sign.
• gradual tapering → Rule out cancer.

• Endoscopy.

• Gold standard/ IOC - Manometry.

• Achalasia → look like chiks mouth

Chicago classification

• DCI> 8000 → Hypercontractile/Jackhammer Esophagus

• Distal latency <4s → Diffuse Esophageal spasm

Eckardt Score

• Weight loss.

• Dysphagia.

• Retrosternal pain.

• Regurgitation.

• Ekki ekki varunn → Kazhikkumbo vedana + Thiratti varum + Irakkan budhimuttu → Weight loss

Hurst phenomenon

• During barium swallow,
• lower esophageal sphinctre opens
• contents pass to stomach

• Hurst → Burst open

Treatment

• Botox:
• Highest recurrence.
• Repeated injections → Scarring.
• Restricted to elderly patients with co-morbidities.

• Heller's Myotomy:
• Laparoscopic myotomy: 6 cm proximal to 2-3 cm distal.
• Better outcome in Type I & II.
• M/C complication: GERD.
• Prevention: fundoplication.

• Pneumatic dilatation:
• Similar efficacy as myotomy.
• Indications:
• Elderly, female
• undilated esophagus, 
• Type II achalasia.

• POEM (Per-oral endoscopic myotomy):
• Best for Type III & other spastic conditions.
• Submucosal tunnelling → Muscles cut → mucosa sutured.
• ↑ Rate of esophagitis.

• Boat (Botulinum) pidich Hellil (heller) Poi (Poem)

Features

• Pyloric hypertrophy 
• Gastric outlet obstruction.
• Due to hypertrophy of circular muscle layer

• MEDICAL EMERGENCY
• Correct fluid electrolyte imbalance with NS.

• Usually affects first born male child.

• Normal at birth → 2-6 weeks → Projectile, non-bilious vomiting.

On examination:

• Easiest to palpate just
• During feeding
• after an episode of vomiting

• Visible and palpable olive-shaped mass
• best appreciated in the Mid-Gastric Area.

• Visible peristalsis (Left → Right)

Diagnosis:

• Hypokalemic metabolic alkalosis with paradoxical aciduria.
• K ↓, Na ↓, Cl ↓

USG s/o

• IOC → Pyloric channel:
• Target / Donut sign
• Muscle thickness ≥ 4mm thick.
• Pylorus length ≥ 16mm long.

• Thickened Pylorus.

Contrast study:

• Mushroom sign.
• narrow pylorus entering duodenum.

• Double track sign.

• String sign → narrowing of pylorus.

String Sign:

• TB

• CHPS

• Crohns Disease

3 - 6 - 9 Rule

• Bone

• Bowel obstruction
• >3 cm dilatation: small bowel obstruction.
• >6 cm dilatation: colonic obstruction.
• >9 cm dilatation: caecal obstruction.

• AKA congenital megacolon.

• Mutation in GDNF (Glial derived neurotrophic factor).

• ENDOTHELIAL B RECEPTOR GENE MUTATION

Etiopathogenesis

• Adynamic/functional obstruction.

• NCC not migrated

• No passage of meconium

• Gold standard: Rectal biopsy.

• Only a segment of colon is affected.

• Aganglionic megacolon → Absence of ganglion cells in
• Meissner plexus → Submucosal
• Between mucosa and muscularis propria.
• Myenteric Plexus (Auerbach) → Muscular layer
• Between the inner circular muscle layer
• And the outer longitudinal muscle layer

• Common in Down's syndrome & MEN 2A/2B.

Clinical Features

• After 48 hrs, neonate present with
• Non-passage of meconium (m/c)
• Abdominal distension and bilious vomiting
• Per rectal examination → sudden propulsion of stools

• Distention.

• Constipation.

• M/c life threatening complication
• Enterocolitis

Investigations

• Rectosigmoid ratio <1 (normal > 1).

1. Full thickness rectal PUNCH biopsy: IOC.
• Loss of ganglion cells.
• Hypertrophied nerve trunks.
• Calretinin immunostaining > IHC: Acetylcholinesterase stain (negative).

2. Barium enema:
• Dilated normal proximal bowel → SIGMOID MEGACOLON
• Transition zone is seen (Normal colon to dilated colon).
• Constricted distal part (Lack ganglion cells).

• Transitional and constricted zones
• lack ganglion cells.

Management: Surgery

• Single Stage: 
• Definitive surgery.

• Two Stages (Severe Extension):
• 1st Stage: Colostomy.
• 2nd Stage: Definitive surgery.

Principles of Surgery

• Bypass abnormal segment.

• Resection and anastomosis.

• Intra-operative Frozen Section:
• Performed to confirm margin of resection.

PULL THROUGH Procedures:

• Swanthamano, Dukhamano, Sugamano → Hirschsprung
• Duhamel's
• Swenson's
• Suave's

Meconium ileus

Causes

1. Prematurity

2. Hypothyroidism

3. Cystic Fibrosis
• Present with other features of CF
• Soap bubble appearance
• NO AIR FLUID LEVEL (dry thick impacted meconium)
• Bishop Koop surgery
• Stippled calcification d/t inspissated stools

4. Hirschsprung disease
• present within 48hrs,
• abdominal distension and bilious vomiting
• On per rectal examination
• On removal of finger
• Sudden expulsion of meconium d/t transient dilatation

5. Anorectal malformation

6. Lazy Left colon syndrome
• Infant of Diabetic mother
• d/t ↓ gut motility → delayed passing of meconium

Cystic Fibrosis

Amylase is raised in all of the following conditions except :

• Inheritance: Autosomal recessive

• Defect:
• CFTR gene on chromosome 7 (p or q)
• commonly Delta F508 mutation
• → due to deletion of phenylalanine at 508th position.

• M/c class of mutation
• CLASS 2 Trafficking

PATHOPHYSIOLOGY

• CFTR = ATP-gated Cl⁻ channel
• Normally:
• secretes Cl⁻ in lungs/GI & reabsorbs Cl⁻ in sweat glands

• Phe508 deletion → misfolded protein → improper trafficking → less Cl⁻ (and H2O) secretion → ENaC overactivity → ↑ Na⁺/H₂O reabsorption → mucus dehydration → abnormally thick mucus secreted into lungs/GI tract
• Mucoviscidosis: Thick mucus secretions throughout the body.
• There is no defect in the cilia.

Gastrointestinal Tract Features

• Normal Meconium Passage: 
• Within 24 hours after birth.

• Meconium ileus (newborns):
• 10-15% patients.
• Impaction of thick meconium in ileum → intestinal obstruction at ileum → delayed passage of meconium & abdominal distension → Virtually diagnostic of CF
• Contrast enema
• shows microcolon + filling defects.
• Distended small intestine (d/t obstruction) proximal to terminal ileum.

• Constipation (Older children):
• Distal Intestinal Obstruction Syndrome (DIOS).

• Pancreatic Insufficiency (85% cases):



• Acini is affected → secrete enzymes with thick, sticky mucus → obstructs the pancreatic ducts → prevent flow of digestive enzymes
• Initially exocrine → Later endocrine.
• Exocrine Features:
• Steatorrhea
• Vitamin A, D, E, K deficiency
• Endocrine Features (2nd decade):
• Diabetes mellitus

Differential Diagnosis (D/D)

• Ano-rectal malformations

• Hirschsprung's disease

Respiratory Tract Features

• Bilateral nasal polyps

• Recurrent infections by catalase positive organisms:
• < 16 yrs: Staphylococcus aureus (M/C) → in early childhood.
• > 16 yrs: Pseudomonas:
• In late childhood/adults.
• Causes mucoid secretions → Forms biofilm → Antibiotic resistance.
• Burkholderia cepacia:
• ↑ risk of death.
• Mnemonic: Buckingham Palace Sheppoi in microbiology
• H. influenzae type B.

Other Features

• Biliary Tract:
• Thick biliary secretions → Bile outflow obstruction → Biliary cirrhosis/neonatal cholestasis.

• Genitourinary Tract:
• Males: Failure of Wolffian duct development → Azoospermia → Infertility.
• absence of B/L vas deferens / seminal vesicle
• spermatogenesis may be unaffected
• Females: ↓ Fertility rate.

• Sweat Glands:
• Inactive CFTR protein → ↑ loss of Na⁺/Cl⁻ in sweat (↓ Reabsorption).
• Salty skin (on kissing).
• Frosting of skin.
• Predisposed to hyponatremic hypochloremic metabolic alkalosis.
• ↑ in sweat Cl⁻ test.

Investigations

 

• X-ray:
• "Soap-bubble" appearance (AKA Neuhauser sign)
• Microcolon: Meconium has not reached the colon.
• NO Air fluid levels.
• Ground glass appearance.

Sweat Chloride Test

• Confirmatory for Cystic Fibrosis.

• Elevated chloride levels in sweat.

• Pilocarpine Iontophoresis:
• Pilocarpine administered into skin via electrodes;
• Sweat collected for Cl⁻ levels processing.

DIAGNOSIS

Clinical

• Positive for any one of the following
• Typical clinical features (respiratory/gastrointestinal/genitourinary).
• History of CF in a sibling (Autosomal Recessive - AR).

Laboratory

• Any 1 positive lab test confirms CF:
• Sweat chloride concentrations
• ≥ 60 mEq/L on separate days.
• Pilocarpine iontophoresis
• Identification of CF mutations.
• Abnormal trans epithelial nasal potential difference.

Associated with:

• Metabolic alkalosis (contraction alkalosis)
• Hyponatremic hypochloremic metabolic alkalosis.

• Hypokalemia

• ↑ Immunoreactive trypsinogen (newborn screening)
• due to clogging of pancreatic duct.

Management of Cystic Fibrosis

• Gastrograffin Enema:
• Contrast enema
• Water soluble.
• Mixes with meconium.
• Forms a bulk to loosen the meconium.

• Bishop Koop Surgery:
• Indicated if not responsive to enema
• Ileostomy performed to manually irrigate the bowel.

• CF → ↑↑ immunoreactive Trypinogen (newborn screening) → Bishop Koop → New house (Neuhauser)

• Koch Appi idunilla → call Bishop (Bishop Koop) → Bishop told its because of New House’s (Neuhauser) Door (Dornase α)

TREATMENT

• Airway clearance:
• Chest physiotherapy,
• Mucolytics → Inhaled DNase
• Human recombinant DNAse.
• Human dornase alfa.
• hypertonic saline

• Infections:
• Azithromycin (prophylaxis), other antibiotics

• Prophylaxis for Pseudomonas infection 
  (3 times a week, decreases colonization):
• Inhaled Tobramycin/Aztreonam.
• Oral Azithromycin.

• Pancreas:
• Enzyme replacement

CFTR modulators:

• TRIKAFTA:
• Elexacaftor + Tezacaftor + Ivacaftor 
• Alexa Tessa Ivani

• Potentiators
• open CFTR
• Ivacaftor

• Correctors
• help folding and trafficking
• Lumacaftor, tezacaftor, Elexacaftor

• Ivan (Ivacaftor) Pottan (Potentiator) anu → Correct cheyyan Luma (Lumacaftor) Teacher (Tezacaftor) ne vilikku

Features

• 5 times less common than achalasia.

• F > M.

• Simultaneous, repetitive, high amplitude contractions.

Clinical Features

• Chest pain (Angina like).

• Dysphagia.

Investigations

• ECG.

• Manometry.

• Barium study: Corkscrew/Rosary bead appearance.

Treatment

• First-line therapy
• Calcium channel blockers
• Nitrates

• Second-line therapies.
• Endoscopic botulinum toxin injection
• pneumatic dilation

• 1st and 2nd line have only transient effects.

Surgical treatment

• Includes extended myotomy of the esophageal body or

• Peroral endoscopic myotomy (POEM):
• Safe and effective
• Especially for patients refractory to medical therapy

Prokinetic Drugs

• Use: GERD.

• Drug Classes:
• 1. D2 Blockers:
• Domperidone
• Metoclopramide
• 2. 5HT4 Agonists:
• Mosapride
• Prucalopride
• Both cause Torsades de pointes
• 3. Motilin Receptor Agonist:
• Erythromycin
• Mnemonic: Throw (erythro) motility ()

Out of Place med in GI

• Misoprostol

• Erythromycin

 

 

• Prominent Transverse folds in esophagus.

• Lines markings on imaging.

• Endoscopy: Stacked up appearance.

• Seen in:
• GERD (m/c), lower 1/3rd
• Eosinophilic esophagitis, upper 1/3rd

• Triad: Dysphagia, Regurgitation, Halitosis.

• Age group: Elderly.

• IOC- Barium swallow.

• AKA Cricopharyngeal achalasia.

 

• Outpouching of diverticulum in this area.

• Causes:
• Old age.
• Tight upper esophageal sphincter (UES).
• Aerophagy, Allergy, Acid reflux.

NOTE

NOTE:

Features

Clinical Features

• Regurgitation (Earliest).

• Halitosis.

• Aspiration pneumonitis (m/c complication).

• Late: Dysphagia from compression.

• Sleep cough: Regurgitation into larynx.

• Boyce's sign: Gurgling sound on swallowing.

Investigation

• Barium swallow (IOC).

Investigations

• Stable patients: CECT.

• Unstable patients: 
• Contrast study → Only IOHEXOL
• Barium C/I

Pneumomediastinum X-ray:

• Angel wing sign
• Thymus seen bilaterally

• Spinnaker sail sign
• Separation of thymus from heart due to air in between

• Ginkgo leaf sign
• Air between fibers of pectoralis major
• Pneumomediastinum with subcutaneous emphysema into muscle fibers

Pleural effusion

Pneumomediastinum CECT: