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Congenital anomalies of neck


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Congenital anomalies of neck

  1. 1. By Dr :Hiranya Kumar Gayary Thursday 31/10/13
  2. 2. Introduction Congenital Anomalies are also known as  Birth defects  congenital disorders or  congenital 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 14
  3. 3. Causes of congenital anomalies 1-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). 15
  4. 4. Congenital anomalies of neck  Branchial Cysts and Sinuses  Thyroglossal duct and thyroid abnormalities  Ectopic thymic and Parathyroid tissue  Lymphangioma(Cystic Hygroma)  Haemangiomas 02
  5. 5. 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: 01
  6. 6. 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. 18
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  9. 9. Pharyngeal Arch Structures 04
  10. 10. Branchial Apparatus Derivatives 03
  11. 11. Branchial Cyst:  ETIOLOGY: 23 Arise from embryonic remnants of the SECOND branchial cleft. PATHOLOGY: Lined by stratified squamous epithelium & most have lymphoid tissue in the wall. Contain straw-coloured fluid rich in cholesterol crystals.
  12. 12. Branchial Cyst: (cont.)  INCIDENCE: TREATMENT: 24 Most frequently seen in young adults Peak 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.
  13. 13. Branchial Cyst: (cont.) FNAC yields acellular fluid that can be rich in cholesterol crystals 25 Surgical excision INVESTIGATIONS: TREATMENT:
  14. 14. Branchial remnants  Present 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 excision  Complication: Cysts and fistulas can become infected if not resected early in childhood 06
  15. 15. Thyroglossal Cyst :  ETIOLOGY: 27 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).
  16. 16. Thyroglossal Cysts Sites 28
  17. 17. Thyroglossal Cyst : (cont.)  CLINICAL PICTURE: 29 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 including the body of hyoid bone (Sistrunk operation
  18. 18. 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 10
  19. 19. Lymphangioma  Lymphangiomas 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. 11
  20. 20. Cystic Hygroma:  DEFINITION: 32 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 of soap bubbles each filled with lymph.
  21. 21. Cystic Hygroma: (cont.)  INCIDENCE: 33 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 makes diagnosis apparent.
  22. 22. Cystic Hygroma: (cont.)  TREATMENT:  Surgical resection via a neck incision.  Total excision is sometimes difficult and recurrences are not infrequent. 34
  23. 23. Hemangioma:  A benign skin lesion consisting of dense, usually elevated masses of dilated blood vessels.  35 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.
  24. 24. Types of Hemangiomas  Strawberry Hemangioma  Cavernous (Deep) Hemangioma  Compound Hemangioma 36
  25. 25. Treatments of Hemangiomas Medical  steroid injection  interferon alfa-2a (FPDL=flashlight-pumped pulse dye laser) 37 Surgical resection FPDL YAG laser
  26. 26. THANK YOU 38