COH – PEDIATRIC SYNOPSIS

Congenital Cardiac Diseases:

Congenital heart diseases (CHDs) are structural heart defects present at birth. They can be categorized into cyanotic and acyanotic heart diseases. Below is a detailed list of major congenital cardiac diseases, including essential clinical information.

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1. Cyanotic Congenital Heart Diseases (CCHD)

These conditions cause low oxygen levels in the blood, leading to cyanosis (bluish discoloration of skin and mucosa).

1.1. Tetralogy of Fallot (TOF)

• Defect: Combination of four heart defects:
  1. Ventricular septal defect (VSD)
  2. Pulmonary stenosis (narrowing of pulmonary valve)
  3. Overriding aorta
  4. Right ventricular hypertrophy
• Symptoms: Cyanosis, clubbing, squatting to relieve dyspnea, “tet spells” (hypercyanotic spells)
• Diagnosis: Echocardiography, Chest X-ray (Boot-shaped heart)
• Treatment: Surgical repair (Blalock-Taussig shunt or complete repair)

1.2. Transposition of the Great Arteries (TGA)

• Defect: Aorta arises from the right ventricle, and the pulmonary artery arises from the left ventricle (switched positions)
• Symptoms: Severe cyanosis, respiratory distress, heart failure
• Diagnosis: Echocardiography, “Egg-on-string” appearance in X-ray
• Treatment: Prostaglandins to keep ductus arteriosus open; Arterial switch surgery

1.3. Tricuspid Atresia

• Defect: Absence of the tricuspid valve, leading to no direct connection between right atrium and right ventricle
• Symptoms: Cyanosis, heart murmur, fatigue
• Diagnosis: Echocardiography, ECG showing left ventricular hypertrophy
• Treatment: Prostaglandins, Fontan procedure (surgical correction)

1.4. Total Anomalous Pulmonary Venous Return (TAPVR)

• Defect: Pulmonary veins do not connect normally to the left atrium, leading to mixed blood circulation
• Symptoms: Cyanosis, respiratory distress, pulmonary hypertension
• Diagnosis: Echocardiography, X-ray showing “snowman sign”
• Treatment: Surgical repair to reconnect pulmonary veins

1.5. Truncus Arteriosus

• Defect: Single great artery instead of separate aorta and pulmonary artery, leading to mixed blood circulation
• Symptoms: Cyanosis, heart failure, respiratory distress
• Diagnosis: Echocardiography
• Treatment: Surgical repair (separating systemic and pulmonary circulation)

1.6. Hypoplastic Left Heart Syndrome (HLHS)

• Defect: Underdeveloped left ventricle and aorta, unable to support circulation
• Symptoms: Cyanosis, shock, weak pulses
• Diagnosis: Echocardiography
• Treatment: Staged surgical correction (Norwood procedure, Glenn shunt, Fontan procedure), heart transplant in severe cases

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2. Acyanotic Congenital Heart Diseases

These conditions do not cause cyanosis but lead to increased pulmonary blood flow or obstruction to blood flow.

2.1. Ventricular Septal Defect (VSD)

• Defect: Hole between the right and left ventricles
• Symptoms: Loud pansystolic murmur, heart failure signs
• Diagnosis: Echocardiography, ECG (biventricular hypertrophy)
• Treatment: Small VSDs may close spontaneously; surgical repair if symptomatic

2.2. Atrial Septal Defect (ASD)

• Defect: Hole between the right and left atria
• Symptoms: Asymptomatic in childhood, later symptoms include palpitations, stroke risk
• Diagnosis: Echocardiography, ECG (right atrial enlargement)
• Treatment: Catheter-based closure or surgical repair if large defect

2.3. Patent Ductus Arteriosus (PDA)

• Defect: Persistent connection between pulmonary artery and aorta
• Symptoms: Continuous “machinery murmur,” bounding pulses
• Diagnosis: Echocardiography
• Treatment: NSAIDs (Indomethacin) in premature infants; surgical closure if symptomatic

2.4. Coarctation of Aorta

• Defect: Narrowing of the aorta, leading to high blood pressure in upper body
• Symptoms: Hypertension, weak femoral pulses, claudication
• Diagnosis: Echocardiography, Rib notching on X-ray
• Treatment: Balloon angioplasty or surgical repair

2.5. Aortic Stenosis

• Defect: Narrowing of the aortic valve, obstructing blood flow
• Symptoms: Ejection systolic murmur, exertional syncope, heart failure
• Diagnosis: Echocardiography, ECG showing left ventricular hypertrophy
• Treatment: Balloon valvuloplasty or valve replacement

2.6. Pulmonary Stenosis

• Defect: Narrowing of the pulmonary valve
• Symptoms: Systolic murmur, right ventricular hypertrophy
• Diagnosis: Echocardiography
• Treatment: Balloon valvuloplasty or surgery

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3. Miscellaneous Conditions

3.1. Ebstein’s Anomaly

• Defect: Malformed tricuspid valve leading to regurgitation and right atrial enlargement
• Symptoms: Cyanosis, arrhythmias
• Diagnosis: Echocardiography
• Treatment: Surgical repair in severe cases

3.2. Double Outlet Right Ventricle (DORV)

• Defect: Both great arteries arise from the right ventricle
• Symptoms: Cyanosis, heart failure
• Diagnosis: Echocardiography
• Treatment: Surgical correction

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Summary Table

Disease	Defect	Symptoms	Diagnosis	Treatment
Tetralogy of Fallot (TOF)	VSD, Pulmonary stenosis, Overriding aorta, RV hypertrophy	Cyanosis, Tet spells	Boot-shaped heart on X-ray	Surgical repair
Transposition of Great Arteries (TGA)	Aorta & Pulmonary artery switched	Severe cyanosis	Egg-on-string heart	Arterial switch surgery
Ventricular Septal Defect (VSD)	Hole between ventricles	Heart murmur, CHF	Echo, ECG	Spontaneous closure or surgery
Atrial Septal Defect (ASD)	Hole between atria	Asymptomatic or palpitations	Echo, ECG	Closure via catheter or surgery
Patent Ductus Arteriosus (PDA)	Persistent ductus arteriosus	Machinery murmur	Echo	NSAIDs, surgery
Coarctation of Aorta	Aortic narrowing	Hypertension, weak pulses	Rib notching on X-ray	Surgery, balloon angioplasty
Tricuspid Atresia	Absent tricuspid valve	Cyanosis, murmur	Echo	Fontan procedure
Hypoplastic Left Heart Syndrome (HLHS)	Underdeveloped LV	Shock, cyanosis	Echo	Staged surgery or transplant
Total Anomalous Pulmonary Venous Return (TAPVR)	Abnormal pulmonary vein connection	Cyanosis, heart failure	Snowman sign on X-ray	Surgery
Ebstein’s Anomaly	Malformed tricuspid valve	Cyanosis, arrhythmias	Echo	Surgery if severe

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Key Points

• Cyanotic CHDs → Cause blue discoloration due to lack of oxygen in blood.
• Acyanotic CHDs → Lead to heart failure and increased pulmonary blood flow but no cyanosis.
• Early Diagnosis & Treatment → Improves prognosis; surgery is often required.
• Common Tests → Echocardiography, ECG, Chest X-ray, Cardiac catheterization.

Congenital Digestive Diseases:

Congenital digestive diseases (also known as gastrointestinal (GI) birth defects) occur due to abnormal development of the digestive tract. These conditions may cause feeding difficulties, malabsorption, obstruction, or severe complications requiring surgical intervention.

Below is a detailed list of major congenital digestive diseases, categorized based on the affected part of the digestive system.

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1. Congenital Esophageal Disorders

1.1. Esophageal Atresia (EA) with Tracheoesophageal Fistula (TEF)

• Defect: Incomplete development of the esophagus, often associated with an abnormal connection to the trachea.
• Symptoms:
  • Excessive drooling and frothy saliva
  • Choking, coughing, cyanosis during feeding
  • Respiratory distress
• Diagnosis: Prenatal ultrasound, contrast study, X-ray with NG tube (coiled in upper pouch)
• Treatment:
  • Surgical repair (esophageal anastomosis)
  • If associated with TEF, ligation of the fistula

1.2. Achalasia

• Defect: Failure of the lower esophageal sphincter (LES) to relax, leading to difficulty in swallowing.
• Symptoms:
  • Dysphagia (difficulty swallowing)
  • Regurgitation of food
  • Weight loss
• Diagnosis: Barium swallow study (bird’s beak appearance), Esophageal manometry
• Treatment:
  • Balloon dilation
  • Heller myotomy (surgical correction)

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2. Congenital Stomach Disorders

2.1. Pyloric Stenosis

• Defect: Hypertrophy of the pyloric muscle causing gastric outlet obstruction.
• Symptoms:
  • Non-bilious projectile vomiting
  • Visible peristaltic waves
  • Palpable “olive-shaped” mass in epigastrium
  • Dehydration and metabolic alkalosis
• Diagnosis: Abdominal ultrasound (thickened pylorus)
• Treatment: Surgical correction (Pyloromyotomy)

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3. Congenital Small Intestine Disorders

3.1. Intestinal Atresia (Duodenal, Jejunal, or Ileal)

• Defect: Complete or partial blockage of the small intestine due to failed recanalization.
• Symptoms:
  • Bilious vomiting
  • Abdominal distension
  • Failure to pass meconium
• Diagnosis: Prenatal ultrasound (double bubble sign in duodenal atresia), X-ray
• Treatment: Surgical removal of the atretic portion and anastomosis

3.2. Malrotation and Volvulus

• Defect: Abnormal rotation of the intestines, leading to twisting (volvulus) and obstruction.
• Symptoms:
  • Bilious vomiting
  • Severe abdominal pain
  • Bloody stools
• Diagnosis: Upper GI contrast study (“corkscrew” appearance)
• Treatment: Emergency surgery (Ladd’s procedure)

3.3. Meckel’s Diverticulum

• Defect: Remnant of the vitelline duct, forming an outpouching in the ileum.
• Symptoms:
  • Painless rectal bleeding
  • Intestinal obstruction
  • Perforation (in rare cases)
• Diagnosis: Meckel’s scan (Technetium-99m)
• Treatment: Surgical excision if symptomatic

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4. Congenital Large Intestine Disorders

4.1. Hirschsprung’s Disease (Congenital Aganglionic Megacolon)

• Defect: Absence of ganglion cells in the colon, leading to a failure of peristalsis.
• Symptoms:
  • Delayed passage of meconium (>48 hours after birth)
  • Chronic constipation
  • Abdominal distension
• Diagnosis: Rectal biopsy (absence of ganglion cells), Barium enema (narrowed rectosigmoid)
• Treatment: Surgical removal of the aganglionic segment (pull-through procedure)

4.2. Anorectal Malformations (Imperforate Anus)

• Defect: Absence of a normal anal opening or abnormal positioning of the rectum.
• Symptoms:
  • Absent anal opening
  • Failure to pass meconium
  • Abdominal distension
• Diagnosis: Clinical examination, X-ray with prone lateral view
• Treatment: Surgical reconstruction (anorectoplasty)

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5. Congenital Hepatobiliary Disorders

5.1. Biliary Atresia

• Defect: Progressive fibrosis and obliteration of bile ducts, leading to bile flow obstruction.
• Symptoms:
  • Persistent neonatal jaundice
  • Pale (clay-colored) stools
  • Hepatomegaly
• Diagnosis:
  • Liver biopsy (bile duct proliferation)
  • HIDA scan (absent bile excretion)
• Treatment:
  • Kasai procedure (hepatoportoenterostomy)
  • Liver transplant in severe cases

5.2. Choledochal Cyst

• Defect: Cystic dilation of the bile ducts, causing bile stasis and obstruction.
• Symptoms:
  • Jaundice
  • Abdominal pain
  • Palpable abdominal mass
• Diagnosis: Ultrasound, MRCP (Magnetic Resonance Cholangiopancreatography)
• Treatment: Surgical excision with biliary reconstruction

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6. Miscellaneous Congenital Digestive Disorders

6.1. Omphalocele

• Defect: Failure of abdominal organs to return to the abdominal cavity, covered by a peritoneal sac.
• Symptoms:
  • Abdominal organs protruding through the umbilical cord
  • Associated with genetic syndromes (e.g., trisomy 13, 18)
• Diagnosis: Prenatal ultrasound
• Treatment: Surgical closure (staged or immediate)

6.2. Gastroschisis

• Defect: Abdominal organs protrude without a protective sac due to a defect in the abdominal wall.
• Symptoms:
  • Exposed intestines at birth
  • Risk of dehydration and infection
• Diagnosis: Prenatal ultrasound
• Treatment: Immediate surgical repair (covering and repositioning intestines)

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Summary Table

Disease	Defect	Symptoms	Diagnosis	Treatment
Esophageal Atresia (EA) & TEF	Esophagus incomplete, abnormal trachea connection	Choking, cyanosis, drooling	X-ray (coiled NG tube)	Surgery
Pyloric Stenosis	Hypertrophy of pyloric muscle	Projectile vomiting, dehydration	Ultrasound	Pyloromyotomy
Duodenal Atresia	Blockage of duodenum	Bilious vomiting, distension	Double bubble sign on X-ray	Surgery
Hirschsprung’s Disease	Absent ganglion cells in colon	Delayed meconium, constipation	Rectal biopsy	Surgical pull-through
Malrotation & Volvulus	Twisting of intestines	Bilious vomiting, bloody stools	Corkscrew appearance on X-ray	Ladd’s procedure
Biliary Atresia	Bile duct fibrosis	Jaundice, pale stools	Liver biopsy, HIDA scan	Kasai procedure, transplant
Omphalocele	Abdominal contents in sac outside body	Visible at birth	Prenatal ultrasound	Surgery
Gastroschisis	Abdominal contents outside body (no sac)	Exposed intestines	Prenatal ultrasound	Surgery

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Key Points

• Obstructive Defects → Pyloric stenosis, duodenal atresia, Hirschsprung’s disease.
• Fistulas & Atresias → EA/TEF, biliary atresia, choledochal cyst.
• Malformations & Defects → Gastroschisis, omphalocele, imperforate anus.
• Early Diagnosis & Treatment → Essential for survival, often requiring surgery.

Congenital Genitourinary Disorders:

Congenital genitourinary disorders are birth defects affecting the kidneys, ureters, bladder, urethra, and genital organs. These conditions may lead to urinary tract obstruction, recurrent infections, kidney dysfunction, or reproductive complications. Below is a categorized list of major congenital genitourinary disorders, along with important details.

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1. Congenital Kidney Disorders

1.1. Renal Agenesis

• Defect: Absence of one (unilateral) or both (bilateral) kidneys.
• Symptoms:
  • Unilateral: Asymptomatic; compensatory hypertrophy of the other kidney.
  • Bilateral (Potter’s syndrome): Oligohydramnios (low amniotic fluid), pulmonary hypoplasia, facial anomalies, incompatible with life.
• Diagnosis: Prenatal ultrasound (absent kidney shadow).
• Treatment:
  • Unilateral: Regular monitoring.
  • Bilateral: No treatment; fatal.

1.2. Renal Hypoplasia

• Defect: Underdeveloped kidney with reduced nephron count.
• Symptoms: Hypertension, chronic kidney disease.
• Diagnosis: Ultrasound, renal function tests.
• Treatment: Supportive management, blood pressure control.

1.3. Polycystic Kidney Disease (PKD)

• Defect: Multiple cysts in the kidneys affecting function.
• Types:
  • Autosomal Dominant PKD (ADPKD): Appears in adulthood.
  • Autosomal Recessive PKD (ARPKD): Manifests in infancy, severe.
• Symptoms:
  • ARPKD: Enlarged kidneys, respiratory distress, liver fibrosis.
  • ADPKD: Hypertension, hematuria, renal failure.
• Diagnosis: Ultrasound, genetic testing.
• Treatment:
  • Supportive care (blood pressure control, dialysis).
  • Kidney transplant if end-stage renal failure develops.

1.4. Multicystic Dysplastic Kidney (MCDK)

• Defect: Nonfunctional kidney with multiple cysts.
• Symptoms: Usually asymptomatic if unilateral.
• Diagnosis: Ultrasound (multiple non-communicating cysts).
• Treatment: No intervention if unilateral; nephrectomy if symptomatic.

1.5. Horseshoe Kidney

• Defect: Fusion of both kidneys at the lower poles.
• Symptoms: Mostly asymptomatic but increases risk of kidney stones and infections.
• Diagnosis: Ultrasound, CT scan.
• Treatment: No treatment unless complications arise.

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2. Congenital Ureteric Disorders

2.1. Ureteropelvic Junction (UPJ) Obstruction

• Defect: Blockage where the ureter meets the renal pelvis.
• Symptoms: Hydronephrosis (swollen kidney), flank pain, recurrent UTIs.
• Diagnosis: Ultrasound, diuretic renal scan.
• Treatment: Surgical repair (pyeloplasty).

2.2. Duplex Kidney (Duplicated Ureter)

• Defect: Two ureters draining a single kidney.
• Symptoms: Urinary incontinence, recurrent UTIs.
• Diagnosis: Voiding cystourethrogram (VCUG), ultrasound.
• Treatment: Surgery if symptomatic.

2.3. Vesicoureteral Reflux (VUR)

• Defect: Urine flows backward from the bladder into the ureters.
• Symptoms: Recurrent UTIs, kidney damage.
• Diagnosis: VCUG, renal scan.
• Treatment:
  • Mild cases: Spontaneous resolution.
  • Severe cases: Surgery (ureteral reimplantation).

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3. Congenital Bladder Disorders

3.1. Posterior Urethral Valves (PUV)

• Defect: Abnormal valve in the male urethra causing urinary obstruction.
• Symptoms: Weak urine stream, UTI, hydronephrosis.
• Diagnosis: VCUG, ultrasound.
• Treatment: Endoscopic valve ablation.

3.2. Bladder Exstrophy

• Defect: Bladder develops outside the abdominal wall.
• Symptoms: Exposed bladder, incontinence.
• Diagnosis: Prenatal ultrasound, clinical examination.
• Treatment: Surgical reconstruction.

3.3. Megacystis

• Defect: Enlarged bladder due to weak muscle function.
• Symptoms: Chronic urinary retention, recurrent infections.
• Diagnosis: Ultrasound, urodynamic studies.
• Treatment: Bladder catheterization, surgery if severe.

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4. Congenital Urethral Disorders

4.1. Hypospadias

• Defect: Urethral opening on the underside of the penis.
• Symptoms: Abnormal urine stream, difficulty urinating.
• Diagnosis: Clinical examination.
• Treatment: Surgical correction (before 18 months of age).

4.2. Epispadias

• Defect: Urethral opening on the upper side of the penis or abnormal location in females.
• Symptoms: Urinary incontinence, abnormal genital appearance.
• Diagnosis: Clinical examination.
• Treatment: Surgical reconstruction.

4.3. Urethral Stricture

• Defect: Narrowing of the urethra.
• Symptoms: Difficulty urinating, weak stream.
• Diagnosis: Urethrogram, cystoscopy.
• Treatment: Urethral dilation, surgery.

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5. Congenital Genital Disorders

5.1. Cryptorchidism (Undescended Testes)

• Defect: Testes fail to descend into the scrotum.
• Symptoms: Empty scrotum, increased risk of infertility and testicular cancer.
• Diagnosis: Physical examination, ultrasound.
• Treatment: Orchidopexy (surgical correction).

5.2. Ambiguous Genitalia (Disorders of Sex Development)

• Defect: External genitalia do not appear distinctly male or female.
• Symptoms: Vary based on underlying genetic or hormonal abnormality.
• Diagnosis: Karyotyping, hormonal testing.
• Treatment: Hormonal therapy, surgery based on gender assignment.

5.3. Hydrocele

• Defect: Fluid accumulation around the testes.
• Symptoms: Scrotal swelling.
• Diagnosis: Transillumination test.
• Treatment: Usually resolves spontaneously; surgery if persistent.

5.4. Inguinal Hernia

• Defect: Abnormal protrusion of abdominal contents through the inguinal canal.
• Symptoms: Groin swelling, pain.
• Diagnosis: Clinical examination, ultrasound.
• Treatment: Surgical repair.

5.5. Micropenis

• Defect: Abnormally small penis due to hormonal deficiency.
• Symptoms: Difficulty with urination and sexual function.
• Diagnosis: Hormonal testing.
• Treatment: Hormone therapy (testosterone).

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Summary Table

Disease	Defect	Symptoms	Diagnosis	Treatment
Renal Agenesis	Absent kidney	Oligohydramnios, lung hypoplasia	Ultrasound	No treatment (fatal if bilateral)
Polycystic Kidney Disease (PKD)	Cystic kidney enlargement	Hypertension, renal failure	Ultrasound	Dialysis, transplant
UPJ Obstruction	Blocked urine flow at kidney	Hydronephrosis, flank pain	Ultrasound	Pyeloplasty
VUR	Urine reflux into ureters	Recurrent UTIs	VCUG	Spontaneous resolution or surgery
Bladder Exstrophy	Bladder exposed outside body	Visible defect, incontinence	Prenatal ultrasound	Surgery
Hypospadias	Urethral opening on underside	Abnormal urination	Clinical exam	Surgery before 18 months
Cryptorchidism	Undescended testes	Empty scrotum	Ultrasound	Orchidopexy
Ambiguous Genitalia	Atypical genital appearance	Unclear external genitalia	Karyotyping	Hormonal therapy, surgery

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Key Points

• Obstructive Disorders → PUV, UPJ obstruction, urethral strictures.
• Structural Abnormalities → Horseshoe kidney, bladder exstrophy.
• Reflux & Urinary Problems → VUR, megacystis.
• Reproductive Defects → Hypospadias, cryptorchidism.
• Early Diagnosis & Treatment → Essential for kidney function and fertility preservation.

Congenital Respiratory Disorders:

Congenital respiratory disorders are birth defects affecting the lungs, airways, diaphragm, and pleural cavity. These conditions can lead to respiratory distress, lung infections, hypoxia, and chronic respiratory complications. Early detection and intervention are crucial for improving survival and quality of life.

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1. Congenital Airway Disorders

1.1. Laryngomalacia

• Defect: Soft, floppy laryngeal tissues causing airway collapse during inhalation.
• Symptoms:
  • Stridor (high-pitched breathing sound)
  • Worsens with feeding, crying, or lying on back
  • Improves when prone (on stomach)
• Diagnosis: Laryngoscopy (shows inward collapse of supraglottic structures)
• Treatment:
  • Usually self-resolves by 18-24 months.
  • Severe cases require surgical intervention (supraglottoplasty).

1.2. Tracheomalacia

• Defect: Weak cartilage in the trachea, leading to airway collapse.
• Symptoms:
  • Barking cough, wheezing, stridor
  • Recurrent pneumonia
  • Exacerbation during crying or feeding
• Diagnosis: Bronchoscopy (dynamic airway collapse seen)
• Treatment:
  • Mild cases: Observation, humidified air
  • Severe cases: CPAP or surgical tracheal stenting

1.3. Congenital Subglottic Stenosis

• Defect: Narrowing of the airway below the vocal cords.
• Symptoms:
  • Stridor
  • Respiratory distress in infancy
  • Difficulty feeding
• Diagnosis: Laryngoscopy or CT scan
• Treatment: Surgical widening of the airway (tracheoplasty)

1.4. Laryngeal Cleft

• Defect: Abnormal opening between the larynx and esophagus.
• Symptoms:
  • Aspiration (food entering lungs)
  • Chronic cough, hoarseness
  • Recurrent pneumonia
• Diagnosis: Laryngoscopy, barium swallow
• Treatment: Surgical repair

1.5. Choanal Atresia

• Defect: Blockage of the nasal airway (unilateral or bilateral).
• Symptoms:
  • Respiratory distress in newborns (especially during feeding)
  • Cyanosis relieved by crying
• Diagnosis: Failure to pass nasal catheter, CT scan
• Treatment: Surgery (endoscopic repair)

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2. Congenital Lung Disorders

2.1. Congenital Pulmonary Airway Malformation (CPAM)

• Defect: Abnormal lung tissue formation, leading to cystic lesions.
• Symptoms:
  • Respiratory distress
  • Recurrent lung infections
• Diagnosis: Prenatal ultrasound, postnatal CT scan
• Treatment: Surgical excision if symptomatic

2.2. Bronchogenic Cyst

• Defect: Cystic remnant of the embryonic foregut in the lungs.
• Symptoms:
  • Asymptomatic or respiratory distress
  • Recurrent lung infections
• Diagnosis: Chest X-ray, CT scan
• Treatment: Surgical removal if symptomatic

2.3. Pulmonary Hypoplasia

• Defect: Underdevelopment of the lungs.
• Causes:
  • Primary: Genetic mutations
  • Secondary: Oligohydramnios, diaphragmatic hernia
• Symptoms:
  • Severe respiratory distress at birth
  • Cyanosis, weak cry
• Diagnosis: Prenatal ultrasound, postnatal X-ray
• Treatment: Mechanical ventilation, supportive care

2.4. Congenital Lobar Emphysema (CLE)

• Defect: Overexpansion of lung lobes due to weak alveolar walls.
• Symptoms:
  • Severe respiratory distress
  • Hyperinflated lung seen on X-ray
• Diagnosis: Chest X-ray, CT scan
• Treatment: Lobectomy if severe

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3. Congenital Diaphragmatic Disorders

3.1. Congenital Diaphragmatic Hernia (CDH)

• Defect: Herniation of abdominal organs into the thoracic cavity due to diaphragmatic defect.
• Symptoms:
  • Severe respiratory distress at birth
  • Scaphoid (sunken) abdomen
  • Bowel sounds in chest
• Diagnosis: Prenatal ultrasound, postnatal X-ray (shows bowel loops in chest)
• Treatment:
  • Immediate: Intubation and mechanical ventilation
  • Definitive: Surgical repair

3.2. Eventration of the Diaphragm

• Defect: Weak or thin diaphragm leading to upward displacement.
• Symptoms:
  • Mild respiratory distress
  • Frequent lung infections
• Diagnosis: Chest X-ray, fluoroscopy
• Treatment: Surgery (diaphragmatic plication)

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4. Congenital Pleural Disorders

4.1. Congenital Chylothorax

• Defect: Lymphatic leakage into the pleural space.
• Symptoms:
  • Respiratory distress
  • Chylous (milky) pleural effusion
• Diagnosis: Thoracocentesis (chylous fluid)
• Treatment:
  • Conservative (medium-chain triglyceride diet)
  • Surgery if persistent (pleurodesis)

4.2. Congenital Pulmonary Lymphangiectasia (CPL)

• Defect: Abnormal dilation of lung lymphatic vessels.
• Symptoms:
  • Severe neonatal respiratory distress
  • Persistent pulmonary edema
• Diagnosis: Lung biopsy, echocardiography
• Treatment: Supportive care, lung transplant in severe cases

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5. Miscellaneous Congenital Respiratory Disorders

5.1. Pierre Robin Sequence

• Defect: Small lower jaw (micrognathia) causing airway obstruction.
• Symptoms:
  • Respiratory distress
  • Difficulty feeding
• Diagnosis: Clinical examination, X-ray
• Treatment:
  • Positioning (prone)
  • Surgery in severe cases (mandibular distraction)

5.2. Primary Ciliary Dyskinesia (Kartagener Syndrome)

• Defect: Defective cilia affecting mucus clearance.
• Symptoms:
  • Chronic cough
  • Recurrent sinus and lung infections
  • Situs inversus (organs reversed)
• Diagnosis: Nasal ciliary biopsy, genetic testing
• Treatment: Airway clearance therapy, antibiotics

5.3. Alpha-1 Antitrypsin Deficiency

• Defect: Deficiency of an enzyme protecting the lungs.
• Symptoms:
  • Early-onset emphysema
  • Liver disease
• Diagnosis: Blood test for AAT levels
• Treatment: Enzyme replacement therapy

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Summary Table

Disease	Defect	Symptoms	Diagnosis	Treatment
Laryngomalacia	Floppy laryngeal tissue	Stridor, worsens with feeding	Laryngoscopy	Self-resolves, surgery if severe
Tracheomalacia	Weak tracheal cartilage	Barking cough, recurrent infections	Bronchoscopy	CPAP, tracheal stent
Choanal Atresia	Blocked nasal airway	Cyanosis relieved by crying	Nasal catheter, CT scan	Surgery
CPAM	Cystic lung malformation	Respiratory distress	Prenatal ultrasound, CT	Surgery
Congenital Diaphragmatic Hernia (CDH)	Herniation of organs into chest	Respiratory distress, scaphoid abdomen	X-ray	Intubation, surgical repair
Pierre Robin Sequence	Small jaw causing airway obstruction	Respiratory distress, feeding issues	Clinical exam	Positioning, surgery
Primary Ciliary Dyskinesia	Cilia dysfunction	Chronic cough, infections	Ciliary biopsy	Airway clearance, antibiotics

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Key Points

• Obstructive Defects → Laryngomalacia, tracheomalacia, choanal atresia.
• Lung Malformations → CPAM, bronchogenic cyst, pulmonary hypoplasia.
• Diaphragmatic Disorders → CDH, eventration.
• Cilia/Mucus Defects → Primary ciliary dyskinesia, alpha-1 antitrypsin deficiency.
• Early Diagnosis & Treatment → Essential for survival.

Congenital Neurological Disorders: Comprehensive Overview

Congenital neurological disorders are conditions affecting the brain, spinal cord, nerves, and neuromuscular system present at birth. These disorders may cause intellectual disabilities, seizures, motor impairments, developmental delays, and life-threatening complications.

Below is a categorized list of major congenital neurological disorders, along with important details.

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1. Congenital Brain Malformations

1.1. Anencephaly

• Defect: Failure of the neural tube to close, leading to the absence of major brain parts and skull.
• Symptoms:
  • Absence of scalp and skull
  • Froglike facial appearance
  • Incompatible with life
• Diagnosis: Prenatal ultrasound, elevated alpha-fetoprotein (AFP) in maternal serum.
• Prevention: Folic acid supplementation in pregnancy.

1.2. Microcephaly

• Defect: Abnormally small head size due to impaired brain development.
• Causes: Genetic mutations, infections (Zika virus, CMV), toxins.
• Symptoms:
  • Small head circumference
  • Developmental delays
  • Seizures
• Diagnosis: Prenatal ultrasound, MRI.
• Treatment: Supportive therapy, physical and speech therapy.

1.3. Holoprosencephaly

• Defect: Failure of the forebrain to divide into two hemispheres.
• Symptoms:
  • Midline facial defects (cyclopia, cleft lip/palate)
  • Intellectual disability
  • Seizures
• Diagnosis: MRI, genetic testing.
• Treatment: Supportive care, seizure control.

1.4. Hydranencephaly

• Defect: Almost complete absence of the cerebral hemispheres, replaced by fluid.
• Symptoms:
  • Severe developmental delay
  • Blindness
  • Hypotonia
• Diagnosis: Prenatal ultrasound, MRI.
• Treatment: Supportive care, palliative management.

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2. Neural Tube Defects (NTDs)

2.1. Spina Bifida

• Defect: Failure of the spinal cord and vertebrae to close properly.
• Types:
  • Spina bifida occulta: Mildest form, asymptomatic.
  • Meningocele: Sac of cerebrospinal fluid (CSF) without spinal cord involvement.
  • Myelomeningocele: Most severe, spinal cord protrudes into a sac.
• Symptoms:
  • Weakness/paralysis in lower limbs
  • Hydrocephalus (in myelomeningocele)
  • Bowel and bladder dysfunction
• Diagnosis: Prenatal ultrasound, maternal AFP test.
• Treatment: Surgery to close the defect, shunt for hydrocephalus.

2.2. Encephalocele

• Defect: Protrusion of brain tissue through skull defects.
• Symptoms:
  • Skull defect with fluid-filled sac
  • Developmental delays
  • Seizures
• Diagnosis: Prenatal ultrasound, MRI.
• Treatment: Surgical removal of the sac.

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3. Congenital Hydrocephalus

• Defect: Abnormal accumulation of CSF in the brain, leading to increased intracranial pressure.
• Causes: Aqueductal stenosis, infections (toxoplasmosis, rubella), genetic syndromes.
• Symptoms:
  • Enlarged head circumference
  • Bulging fontanelle
  • Sunset sign (downward deviation of eyes)
• Diagnosis: Ultrasound (prenatal), MRI/CT scan (postnatal).
• Treatment: Ventriculoperitoneal (VP) shunt placement, endoscopic third ventriculostomy (ETV).

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4. Congenital Cerebellar Disorders

4.1. Dandy-Walker Syndrome

• Defect: Underdevelopment or absence of the cerebellar vermis with cystic enlargement of the fourth ventricle.
• Symptoms:
  • Hypotonia
  • Ataxia (poor coordination)
  • Hydrocephalus
• Diagnosis: Prenatal ultrasound, MRI.
• Treatment: VP shunt, supportive therapy.

4.2. Joubert Syndrome

• Defect: Malformation of the cerebellum and brainstem.
• Symptoms:
  • Developmental delay
  • Oculomotor apraxia (eye movement disorder)
  • Respiratory abnormalities
• Diagnosis: MRI (molar tooth sign).
• Treatment: Supportive therapy, speech and physical therapy.

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5. Congenital Neuromuscular Disorders

5.1. Congenital Myopathies

• Defect: Muscle weakness due to genetic mutations affecting muscle structure.
• Types: Nemaline myopathy, centronuclear myopathy, core myopathy.
• Symptoms:
  • Floppy baby syndrome
  • Feeding difficulties
  • Delayed motor milestones
• Diagnosis: Muscle biopsy, genetic testing.
• Treatment: Physical therapy, respiratory support.

5.2. Spinal Muscular Atrophy (SMA)

• Defect: Degeneration of motor neurons in the spinal cord due to SMN1 gene mutation.
• Symptoms:
  • Progressive muscle weakness
  • Hypotonia
  • Absent deep tendon reflexes
• Diagnosis: Genetic testing (SMN1 deletion).
• Treatment: Nusinersen (gene therapy), supportive care.

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6. Congenital Epileptic Disorders

6.1. Ohtahara Syndrome

• Defect: Severe early-onset epilepsy due to cortical malformations or metabolic disorders.
• Symptoms:
  • Seizures within first weeks of life
  • Developmental delay
• Diagnosis: EEG (burst suppression pattern).
• Treatment: Anti-seizure medications, ketogenic diet.

6.2. West Syndrome (Infantile Spasms)

• Defect: Epileptic disorder characterized by spasms and developmental regression.
• Symptoms:
  • Sudden, repetitive muscle contractions
  • Regression of developmental milestones
• Diagnosis: EEG (hypsarrhythmia).
• Treatment: ACTH therapy, Vigabatrin.

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7. Congenital Peripheral Nerve Disorders

7.1. Congenital Hypotonia

• Defect: Reduced muscle tone due to neurological dysfunction.
• Causes: Prader-Willi syndrome, Down syndrome, SMA.
• Symptoms:
  • Floppy baby
  • Poor feeding
  • Weak cry
• Diagnosis: Genetic testing, muscle biopsy.
• Treatment: Supportive care, physiotherapy.

7.2. Charcot-Marie-Tooth Disease (CMT)

• Defect: Peripheral nerve disorder causing progressive muscle weakness.
• Symptoms:
  • High-arched foot
  • Muscle wasting in legs
  • Weakness in hands and feet
• Diagnosis: Nerve conduction studies, genetic testing.
• Treatment: Physical therapy, orthopedic interventions.

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Summary Table

Disease	Defect	Symptoms	Diagnosis	Treatment
Anencephaly	Absent brain tissue	Fatal, skull defect	Ultrasound, AFP test	No treatment
Microcephaly	Small brain	Developmental delay	MRI, genetic tests	Supportive care
Spina Bifida	Neural tube defect	Weakness, hydrocephalus	AFP, ultrasound	Surgery
Hydrocephalus	Excess CSF	Bulging fontanelle, enlarged head	MRI, CT scan	VP shunt
Dandy-Walker Syndrome	Cerebellar malformation	Ataxia, hydrocephalus	MRI	Shunt, therapy
SMA	Motor neuron loss	Muscle weakness, hypotonia	Genetic test	Gene therapy
Infantile Spasms	Seizures	Developmental regression	EEG	ACTH, Vigabatrin

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Key Points

• Structural Brain Defects: Anencephaly, microcephaly, holoprosencephaly.
• Neural Tube Defects: Spina bifida, encephalocele.
• Hydrocephalus-Related Conditions: Dandy-Walker syndrome, aqueductal stenosis.
• Neuromuscular Disorders: SMA, congenital myopathies.
• Severe Epileptic Syndromes: Ohtahara syndrome, West syndrome.