CHARGE syndrome

Question 1

A 2-month-old infant is evaluated for failure to thrive and persistent nasal congestion. On examination, there are colobomas of both eyes and hypoplastic external ears. Further evaluation reveals congenital heart disease and bilateral choanal atresia. Which of the following is the most likely diagnosis?

A) VACTERL association
B) CHARGE syndrome
C) Treacher Collins syndrome
D) Pierre Robin sequence
E) Down syndrome

Answer 1

Answer: B) CHARGE syndrome

Explanation: CHARGE syndrome is characterized by a constellation of features:

C: Coloboma
H: Heart defects
A: Atresia choanae
R: Growth Retardation
G: Genital hypoplasia
E: Ear abnormalities

The combination of coloboma, choanal atresia, and heart defects strongly suggests CHARGE syndrome.

Question 2

What does the acronym CHARGE stand for?

Answer 2

C: Coloboma of the eye
H: Heart defects (e.g., tetralogy of Fallot, atrial septal defects)
A: Atresia of the choanae (choanal atresia)
R: Retardation of growth and development
G: Genital abnormalities (e.g., hypogonadism, micropenis)
E: Ear anomalies (e.g., malformed ears, hearing loss)

Question 3

True or False: CHARGE syndrome is primarily caused by environmental factors.

Answer 3

False: CHARGE syndrome is primarily caused by genetic mutations, particularly in the CHD7 gene.

Question 4

Which gene is most commonly associated with CHARGE syndrome?

Answer 4

CHD7 gene.

Question 5

Which of the following is the most common genetic mutation associated with CHARGE syndrome?

A) Mutations in the TBX1 gene
B) Deletion at 22q11.2
C) Mutations in the CHD7 gene
D) Mutations in the FBN1 gene
E) Mutations in the SHH gene

Answer 5

Answer: C) Mutations in the CHD7 gene

Explanation:
CHARGE syndrome is most commonly caused by mutations in the CHD7 gene, which encodes a chromodomain helicase DNA-binding protein essential for embryonic development. The condition is typically sporadic but can be inherited in an autosomal dominant pattern.

Question 6

Short answer: What is the primary mode of inheritance for CHARGE syndrome?

Answer 6

Autosomal dominant.

Question 7

What is the prevalence of CHARGE syndrome in live births?

Answer 7

Approximately 1 in 10,000 to 1 in 15,000 live births.

Question 8

True or False: CHARGE syndrome affects only males.

Answer 8

False: It affects both males and females.

Question 9

What is a common ocular abnormality seen in CHARGE syndrome?

Answer 9

Coloboma.

The “C” in CHARGE syndrome

Question 10

The “H” in CHARGE syndrome is characterized by ________ defects.

Answer 10

congenital HEART defects.

Question 11

Which of the following is the most commonly associated cardiac anomaly in CHARGE syndrome?

A) Tetralogy of Fallot
B) Atrial septal defect
C) Patent ductus arteriosus
D) Hypoplastic left heart syndrome
E) Coarctation of the aorta

Answer 11

Answer: A) Tetralogy of Fallot

Explanation: Tetralogy of Fallot is the most common cardiac defect associated with CHARGE syndrome, though other congenital heart defects (e.g., VSD, ASD, PDA) may also occur.

Question 12

What type of choanal atresia is most commonly associated with CHARGE syndrome?

Answer 12

Bilateral choanal atresia.

Question 13

A newborn with suspected CHARGE syndrome is evaluated for choanal atresia. Which of the following is the most appropriate initial diagnostic test?

A) Echocardiography
B) CT scan of the head with contrast
C) Nasal endoscopy
D) Renal ultrasound
E) Genetic testing for CHD7 mutations

Answer 13

Answer: C) Nasal endoscopy

Explanation: Choanal atresia, a key feature of CHARGE syndrome, is best diagnosed with nasal endoscopy or CT imaging. These modalities allow for visualization of the atretic choanae and assessment of bony or membranous obstruction. Additional tests like echocardiography or renal ultrasound are used to assess associated anomalies.

Question 14

Which of the following best describes the ear abnormalities seen in CHARGE syndrome?

A) Low-set ears with microtia
B) Posteriorly rotated ears and conductive hearing loss
C) Mondini malformation and mixed hearing loss
D) Preauricular pits and tags with normal hearing
E) Hyperplastic external ear canals and normal hearing

Answer 14

Answer: C) Mondini malformation and mixed hearing loss

Explanation: Ear anomalies in CHARGE syndrome often include Mondini malformation (incomplete cochlear development) and abnormalities of the external and middle ear. These lead to mixed hearing loss, which is a common feature.

Question 15

What type of hearing loss is commonly associated with CHARGE syndrome?

Answer 15

Sensorineural hearing loss.

Question 16

True or False: Individuals with CHARGE syndrome often have normal growth and development.

Answer 16

False: Individuals typically experience growth and developmental delays.

Question 17

What developmental issue is often observed in children with CHARGE syndrome?

Answer 17

Intellectual disability.

Question 18

The “R” in CHARGE syndrome may involves ________ anomalies.

Answer 18

renal.

Question 19

Which of the following is NOT a feature of CHARGE syndrome:

A) Ear abnormalities
B) Coloboma
C) Diabetes mellitus

Answer 19

C) Diabetes mellitus.

Question 20

True or False: CHARGE syndrome can be diagnosed through genetic testing.

Answer 20

True.

Question 21

The “G” in CHARGE syndrome may exhibit ________ abnormalities.

Answer 21

genital.

• hypogonadism
• micropenis
• hypospadias

Question 22

Multiple choice: Which of the following is a common ear abnormality in CHARGE syndrome? A) Atresia B) Microtia C) Both A and B

Answer 22

C) Both A and B.

Question 23

Which imaging technique is often used to assess ear abnormalities in CHARGE syndrome?

Answer 23

CT scan (computed tomography).

Question 24

Multiple choice: Which of the following features is NOT associated with CHARGE syndrome?

A) Growth retardation
B) Renal anomalies
C) Hypertension

Answer 24

C) Hypertension.

Question 25

True or False: All individuals with CHARGE syndrome will have all the classic features.

Answer 25

False: The presentation can vary widely among individuals.

Question 26

Fill in the blank: CHARGE syndrome can lead to ________ complications.

Answer 26

multisystem.

Question 27

What is the role of genetic counseling in families with CHARGE syndrome?

Answer 27

To provide information on inheritance patterns, risks of recurrence, and support.

Question 28

What is a common surgical intervention for choanal atresia in CHARGE syndrome?

Answer 28

Surgical repair of choanal atresia.

Question 29

What is a key aspect of management for individuals with CHARGE syndrome?

Answer 29

Multidisciplinary care approach.

Question 30

Short answer: What is the expected lifespan of individuals with CHARGE syndrome?

Answer 30

Varies widely; many live into adulthood with appropriate care.

Question 31

Choanal Atresia is often associated with ____ and ______

Answer 31

Associated with CHARGE and Treacher-Collins

CHARGE:
Coloboma
Heart defects
Retarded growth and development
Genital hypoplasia
Ear abnormalities

Unilateral choanal atresia is most common and may initially present with mucopurulent discharge, but will mainly will reveal later in life during childhood with unilateral nasal discharge and obstruction.

Bilateral: Presents in infancy mainly as a neonate, with cyclic cyanosis, worse with activities not allowing for mouth breathing (feeding) and improves with crying. There is a failure in ability to pass a catheter through nares.

Dx: CT scan (confirms narrowing of pterygoid plate in posterior nasal cavity)

Initial tx is establishing an oral airway and feeding tube. Establishing an airway is an acute otolaryngologic emergency. While this should be done in the operating room, a Montgomery nipple can be used as an interim measure prior to surgery. Correction can be done endoscopically or surgically.