Congenital anomalies of Neck

By Dr :Hiranya Kumar GayaryThursday 31/10/13

IntroductionCongenital Anomalies are also known asBirth defectscongenital disorders orcongenital malformations.

Congenital anomalies can be defined as structural or functional anomalies including metabolic disorders which are present at the time of birth.

Appro 50% of all congenital anomalies cannot be assigned to a specific cause

However some causes or risk factors have been associated to congenital anomalies which are

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Causes of congenital anomalies1-Genetic factors such as chromosomal

abnormalities and mutant genes.2-Environmental factors e.g.: the mother had

German measles in early pregnancy will cause abnormality in the embryo.

3-Combined genetic and environmental factors (mutlifactorials factors).

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Congenital anomalies of neckBranchial Cysts and SinusesThyroglossal duct and thyroid abnormalitiesEctopic thymic and Parathyroid tissueLymphangioma(Cystic Hygroma)Haemangiomas

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The most typical feature in development of the neck is formed by the pharyngeal or branchial arches. These arches appear in the fourth and fifth weeks of development and contribute to the characteristic external appearance of the embryo .Initially, they consist of bars of mesenchymal tissue separated by deep clefts known as pharyngeal (branchial) clefts

Pharyngeal Arch Development:

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Pharyngeal Arch Development :(cont)Simultaneously, with development of the arches and

clefts, a number of outpocketings, the pharyngeal pouches, appear along the lateral walls of the pharyngeal gut, the most cranial part of the foregut The pouches penetrate the surrounding mesenchyme, but do not establish an open communication with the external clefts. Hence, although development of pharyngeal arches,clefts, and pouches resembles formation of gills in fishes and amphibia, in

the human embryo real gills (branchia) are never formed. Therefore, the term pharyngeal (arches, clefts, and pouches) has been adopted for the human embryo.

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Pharyngeal Arch Structures

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Branchial Apparatus Derivatives

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Branchial Cyst:ETIOLOGY:

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Arise from embryonic remnantsof the SECOND branchial cleft.

PATHOLOGY:

Lined by stratified squamous epithelium & most have lymphoidtissue in the wall. Contain straw-coloured fluid rich in cholesterol crystals.

Branchial Cyst: (cont.)INCIDENCE:

TREATMENT: 12

Most frequently seen in young adultsPeak age: third decade

CLINICAL PICTURE:

Slowly-growing, painless, soft cystic swelling,characteristically under the ant. border of the upper & middle 1/3 of the SCM muscle. Branchial cysts are not translucent & do not move on swallowing

INVESTIGATIONS:

FNAC yields acellular fluid that can be rich in cholesterol crystals.

Branchial Cyst: (cont.)

FNAC yields acellular fluid that can be rich in cholesterol crystals

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Surgical excision

INVESTIGATIONS:

TREATMENT:

Branchial remnantsPresent as fistulas or cysts anywhere on the

anterior border of the sternocleidomastoideus muscle

Cyst presents with nontender enlarging swelling

Fistula presents with drainage of saliva from the ostium

Treatment: Early excisionComplication: Cysts and fistulas can become

infected if not resected early in childhood06

Thyroglossal Cyst :ETIOLOGY:

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A developmental abnormality dt persistence of a part of the thyroglossal tract (extends from the foramen caecum at the BOT to the isthmus of thyroid gland).

SITES:

¼ above the hyoid (Intralingual or Suprahyoid). ¾ below the hyoid (Thyrohyoid or Suprasternal).

INCIDENCE:

Most common midline neck cyst.Mean age: 5 years (about 30% present after 30y).

Thyroglossal Cysts Sites

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Thyroglossal Cyst : (cont.)CLINICAL PICTURE:

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Midline painless neck cyst that moves up &down with swallowing & on tongue protrusion. Sometimes may present as an infected cyst.

TREATMENT:

Surgical excision of the cyst + tract includingthe body of hyoid bone (Sistrunk operation

Ectopic Thymic and Parathyroid Tissue

Since glandular tissue derived from the pouches undergoes migration, it is not unusual for accessory glands or remnants of tissue to persist along the pathway. This is true particularly for thymic tissue, which may remain in the neck, and for the parathyroid glands. The inferior parathyroids are more variable in position than the superior ones and are sometimes found at the bifurcation of the common carotid artery

Ectopic Thymic And Parathyroid Tissue

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LymphangiomaLymphangiomas are congenital

malformations of lymph tissue that result from the failure of lymph spaces to connect to the rest of the lymphatic system.

Lymphangiomas present as a soft, smooth, nontender mass that is compressible and can be transilluminated.

Depending on the size and location, there might be respiratory compromise and difficulty in feeding.

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Cystic Hygroma:DEFINITION:

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Rare malformations of the lymphatic system that usually present as a posterior neck swelling.

ETIOLOGY:

Sequestration of a portion of the jugular lymph ducts from the lymphatic system. The swelling consists of an aggregation of cysts like a mass ofsoap bubbles each filled with lymph.

Cystic Hygroma: (cont.)INCIDENCE:

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Age at presentation:60% at birth, 75% by 1y., 90% by 2nd birthday

CLINICAL PICTURE: Soft easily compressible, translucent, fluctuant, ill-defined posterior neck swelling. May spread into cheek, floor of mouth, tongue, parotid & ear canal. Stridor dt. tracheal displacement with mediastinal involvement.

INVESTIGATIONS:

CT scan with contrast makesdiagnosis apparent.

Cystic Hygroma: (cont.)TREATMENT: Surgical resection via a neck incision. Total excision is sometimes difficult and

recurrences are not infrequent.

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Hemangioma:A benign skin lesion consisting of dense,

usually elevated masses of dilated blood vessels.

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Blood vessels are tubes of endothelial cells surrounded by layers of smooth muscle cells and connective tissue proteins, which develop as a result of biochemical signals between the two.

Sometimes this communication fails and abnormal blood vessels form.

Types of HemangiomasStrawberry Hemangioma

Cavernous (Deep) Hemangioma

Compound Hemangioma

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Treatments of Hemangiomas Medical

steroid injection

interferon alfa-2a

(FPDL=flashlight-pumped pulse dye laser)

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Surgical

resection

FPDL

YAG laser

THANK YOU

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