DR MICHAEL OKU DEPARTMENT OF ANATOMY Development of Somites
• Apart from the notochord, the cells of the
primitive node form the paraxial mesoderm. • Close to the primitive node the cells appear as a thick longitudinal column of cells. • Each column is continuous laterally with the intermediate mesoderm which thins out to form the lateral mesoderm. DEVELOPMENT AND FATE OF SOMITES • Towards the end of the 3rd week, the cells of the paraxial mesoderm differentiate, condense and begin to divide into paired cuboidal bodies known as somites, which appear in a cranio-caudal sequence. • The somites are located on each side of the developing NT. • During the somite period of development, about 38 pairs of somites are formed. By the end of the 5th week, 42-44 pairs of somites have been formed. • The somites first appear in the occipital region of the embryo. • The develop craniocaudally and give rise to the axial skeleton, associated musculature and adjacent dermis of the skin. Fate of the somites
• The somites are divided into three parts:
• The ventromedial part (sclerotome): These cells surround the NT and give rise to the vertebral column and the ribs • The Lateral part (dermatome): These cells migrate and come to line the deep surface of the ectoderm covering the entire body, They give rise to the dermis of the skin and subcutaneous tissue • The intermediate part (myotome): These give rise to the skeletal muscles in the cervical, thoracic, lumbar regions and sacral regions. • One spinal innervates each myotome therefore the number of somites in these regions correspond to the number of spinal nerves. Other somites are occipital somites which give rise to the muscles of the tongue Molecular basis of somite development
• Through experimental studies, it has been
discovered that the formation of somites from paraxial mesoderm involves the expression of notch pathway genes, Hox genes and other signalling factors. • Also somite formation is preceded by the expression of the forkhead transcription factors FoxC1 and C2 and the cranio-caudal segmentation is regulated by the Delta-Notch signalling system CLINICAL CONSIDERATIONS
• Most defects of the spinal cord result from abnormal
closure of the neural folds in the third and fourth weeks of development • The resulting abnormalities neural tube defects (NTDs), may involve the meninges, vertebrae, muscles, and skin. • Severe NTDs involving neural and non-neural structures occur in approximately 1 in 1000 births, but the incidence varies among different populations and may be as high as 1 in 100 births in some areas, such as Northern China • Spina bifida is a general term for NTDs affecting the spinal region. It consists of a splitting of the vertebral arches and may or may not involve underlying neural tissue. • Two different types of spina bifida occur: • 1) Spina bifida occulta is a defect in the vertebral arches that is covered by skin and usually does not involve underlying neural tissue • It occurs in the lumbosacral region (L4 to S1) and is usually marked by a patch of hair overlying the affected region.
• The defect, which is due to a lack of fusion of the vertebral arches,
affects about 10% of otherwise normal people • Spina bifida cystica is a severe NTD in which neural tissue and/or meninges protrude through a defect in the vertebral arches and skin to form a cystlike sac. Most lie in the lumbosacral region and result in neurological deficits, but they are usually not associated with mental retardation. • In some cases only fluid-filled meninges protrude through the defect (spina bifida with meningocele), in others neural tissue is included in the sac (spina bifida with meningomyelocele) • Occasionally the neural folds do not elevate but remain as a flattened mass of neural tissue (spina bifida with myeloschisis or rachischisis MENINGOMYELOCELE • Meningomyelocele: a defect of the spinal cord. The spine and the cord doesn’t close normally. • The membranes and the spinal nerves push through the opening forming a sac on the baby’s back • The most severe form of spina bifida. ANENCEPHALY • A defect in the formation of the neural tube during development. • Usually born with an underdeveloped brain and an incomplete skull • Born as a stillborn or few days after birth • The origin of most NTDs is multifactorial, and the likelihood of having a child with such a defect increases significantly once one affected offspring is born. • Recent evidence proves that folic acid (folate) reduces the incidence of NTDs by as much as 70% if 400 µg is taken daily beginning 2 months prior to conception and continuing throughout gestation. • Hirschsprung’s disease • Also known as aganglionic megacolon • It is a birth defect in which nerves are missing from parts of the large intestine • It may occur by itself or in association with other genetic disorders such as Down’s syndrome • It is said to be due to non- or defective migration of neuroblasts (derived from neural crest cells) into the large intestine • The affected part of the LI lacks nerve bodies that regulate its activity thus creating an obstruction • HD is usually diagnose shortly after birth as the baby is unable to pass the first stool (meconium) within 48hrs of delivery Hirschsprung’s disease Other symptoms are: • Green or brown vomit • Explosive stool after a ginger is inserted into the rectum • Abdominal swelling • Excessive gas • Bloody diarrhoea • Some cases may be diagnose later in life, usually before the age of 10 • The child may experience fecal retention, constipation and /or abdominal distension • Treatment is by surgical procedure involving the resection (removal) of the affected part of the colon followed by re-anastomosis.