65.1 Choanal Atresia

65.1.1 Epidemiology

• 1/7000 to 8000 live births

• Common cause of neonatal respiratory distress

• 50 to 60% unilateral

• 29% pure bony, 71% mixed bony and membranous

• Female > male (2:1)

• Autosomal recessive inheritance

• Gene chromodomain 7

65.1.2 Aetiology

• Failure of breakdown of buccopharyngeal membrane on day 45 of gestation

• Neural crest migration failure = another theory

• Common association with other anomalies:

CHARGE:

– C—coloboma (eye defects)

– H—heart defects

– A—choanal atresia (nasal blockage)

– R—retardation of growth and developmental delay

– G—genitalia (small penis, undescended testicles)

– E—ear anomalies—malformed pinnae, hypoplastic incus, cochlear anomalies, absent Sccs

Branchial abnormalities

Humeroradial synostosis

Mandibular facial synostosis

Microcephaly

Micrognathia

Nasopharyngeal abnormalities

Palatal defects

65.1.3 Symptoms

• Respiratory distress at birth

• Infant crying relieves obstruction

• When neonate closes mouth pattern of cyclic obstruction develops leading to respiratory failure

• Unilateral cases present later in life with unilateral rhinorrhoea

• Obligate nose breathers until 6 to 9 months age

65.1.4 Investigations

• Confirmed by inability to pass ⅚ Fr gauge feeding tube

• Endoscopic examination

• CT scan determines type of obstruction and thickness

• ECHO

65.1.5 Treatment

• Transnasal correction in 1st week of life

• Unilateral can be corrected at 1 year

Transnasal Approach

• Curette partition

• Use 3.5 mm ETT as stent

• Use posterior membranous flaps to cover bone

• Complications:

Meningitis

CSF leak

Brain injuries

Gradenigo syndrome

Cervical vertebral subluxation

Restenosis

• CO₂ laser, endoscopically guided, Nd:YAG laser = alternatives

Transpalatal Approach

• Superior visualization

• Impaired palatal growth a potential problem in neonate—suitable only for >5 years old

65.2 Thornwaldt Cyst and Rathke Pouch Cyst

65.2.1 Embryology/Pathology

• Pharyngeal segments of primitive notochord remain connected to endoderm in nasopharynx

• Bursa located in midline of nasopharynx

• If bursa occluded by inflammation → Thornwaldt cyst—can become infected

• Anterior to invagination and above bursa is a small pharyngeal hypophysis developed from Rathke pouch—sometimes persists as craniopharyngeal canal running from sella turcica through body of sphenoid

• Appear clinically in 2nd to 3rd decades

• Male = female

• Intermittent/persistent postnasal discharge (tenacious mucus/purulent material)

• Associated with odynophagia, halitosis, dysgeusia, dull occipital headache

• Midline cystic mass superior to adenoids seen on endoscopy

• Cyst lined by respiratory epithelium

• CT/MRI—well defined

• Excision or wide marsupialization

65.2.3 Rathke Pouch Cysts

• Lined by columnar or cuboidal ciliated epithelium

• May become infected or rupture intracranially

• Commonly associated with galactorrhea, visual field loss, and hypopituitarism

• Transsphenoidal cyst drainage and biopsy of the wall required

65.3 Chordomas

• Rare malignant neoplasms arising from notochordal remnants

• 5th to 6th decade of life

• 50% in spheno-occipital area

• Male = female

• Expanding nasopharyngeal mass

• Frontal headaches

• CN palsies (VI n in 60%)

• Pituitary abnormalities

• Children <5 years have wider range of presenting symptoms

• CT/MRI to investigate and plan surgery

• Surgical resection via skull base approach

• 5-year survival = 50%

• Radiotherapy increases survival rates

• Chemotherapy indicated if mets occur

65.3.1 Craniopharyngiomas

• Arise from Rathke pouch

• Located in sellar, parasellar, and III ventricle regions

• Composed of well-differentiated epithelial elements, e.g., cysts, ameloblasts

• 10 to 15% of all childhood intracranial neoplasms

• Visual field defects, sudden blindness, extraocular motor paralysis, and hypopituitarism

• Median age = 7.5 years

• Male = female

• Surgical resection followed by radiotherapy

• 10-year survival = 90%

• Surgical removal has high risk of death endocrinologic complications, and behavioural dysfunction

• Those located in an enlarged sella can be removed transsphenoidally

65.4 Cleft Lip and Palate

65.4.1 Epidemiology

• 1/700 births

• Increased risk if older sibling affected

• Teratogens: ethanol, retinoids, folate antagonists

• Maternal smoking also causative

• Syndromic or nonsyndromic

Over 20 syndromes associated, e.g., Apert, Treacher–Collins, Pierre Robin, and DiGeorge

65.4.2 Aetiology

• Cleft lip is due to failure of fusion between medial nasal, maxillary, and lateral nasal prominences

• Cleft lip either complete (muscular diastasis [separation] of orbicularis oris) or incomplete

• Cleft palate formation is hypothesized to result from:

Defects in palatal shelf growth

Delayed shelf elevation

Failed shelf elevation

Defective shelf fusion

• Primary palate: lip, alveolar arch, palate anterior to incisive foramen (premaxilla)

• Secondary palate: soft palate and hard palate posterior to incisive foramen

65.4.3 Features and Symptoms Cleft Lip