Horner's syndrome or Horner syndrome is a clinical syndrome caused by damage to the sympathetic nervous system. It is also known by the names Bernard-Horner syndrome or oculosympathetic palsy.
Components:
@ pseudoptosis (partial ptosis d/d 3rd nerve palsy = complete)
@ miosis (d/d 3rd nerve palsy = dilated)
@ anhidrosis
@ enophthalmos
@ loss of ciliospinal reflex
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Pierre Robin Syndrome
Definition
Congenital condition of facial abnormalities in humans. As PRS is not caused by a single defect gene, it is not a genetic syndrome, but rather a chain of certain developmental malformations, one entailing the next.
Presented as :
@ Glossoptosis - retraction of tongue
@ Micrognathia - small jaw
@ Cleft palate
Causes
It is unknown just how this abnormality occurs in infants.
One theory is that, at some time during the stage of the formation of the bones of the fetus, the tip of the jaw (mandible) becomes 'stuck' in the point where each of the collar bones (clavicle) meet (the sternum), effectively preventing the jaw bones from growing. It is thought that, at about 12 to 14 weeks gestation, when the fetus begins to move, the movement of the head causes the jaw to "pop out' of the collar bones. From this time on, the jaw of the fetus grows as it would normally, with the result that, when born, the jaw of the baby is much smaller (micrognathia) than it would have been with normal development, although it does continue to grow at a normal rate until the child reaches maturity.
Associated Syndrome
@Stickler Syndrome
@Velocardiofacial Syndrome
@Fetal Alcohol Syndrome
@Treacher Collins Syndrome
Complication
The most important medical problems are difficulties in breathing and feeding. (needs assistance with feeding, for example needing to stay in a lateral position, needing specially adapted teats or spoons to feed, and often needing nasogastric feeding or supplemental feeding for periods due to slow feeding).
This is related to the difficulty in forming a vacuum in the oral cavity related to the cleft palate, as well as to breathing difficulty related to the posterior position of the tongue. Infants, when moderately to severely affected, may occasionally need nasopharyngeal cannulation more rarely endotracheal intubation or tracheostomy to overcome upper respiratory obstruction.
Treatment
In nasopharyngeal cannulation, the infant is fitted with a blunt-tipped length of surgical tubing, which is inserted into the nose and down the throat, ending just above the esophagus. Surgical threads fitted through holes in the outside end of the tube are attached to the cheek with a special skin-like adhesive material called 'stomahesive', which is also wrapped around the outside end of the tube (but not over the opening at the end) to keep the tube in place. This tube or cannula, which itself acts as an airway, primarily acts as a sort of "splint" which makes further airways on either side of the tube between the tongue and the throat wall, thus assisting the infant in breathing and preventing the tongue from falling back down into the throat, which would cause the infant to asphyxiate. Nasopharyngeal cannulation should be favoured over the other treatments mentioned in this article, as it is far less invasive, it allows the infant to feed without the further placement of a nasogastric tube, and the infant can be placed in the prone position without fear of asphyxiation. This treatment may be necessary for a period of up to six months or more, until the jaw has grown enough so that the tongue assumes a more normal position in the mouth and airway (at birth, the jaws of some infants are so underdeveloped that only the tip of the tongue can be seen when viewed in the throat).
Congenital condition of facial abnormalities in humans. As PRS is not caused by a single defect gene, it is not a genetic syndrome, but rather a chain of certain developmental malformations, one entailing the next.
Presented as :
@ Glossoptosis - retraction of tongue
@ Micrognathia - small jaw
@ Cleft palate
Causes
It is unknown just how this abnormality occurs in infants.
One theory is that, at some time during the stage of the formation of the bones of the fetus, the tip of the jaw (mandible) becomes 'stuck' in the point where each of the collar bones (clavicle) meet (the sternum), effectively preventing the jaw bones from growing. It is thought that, at about 12 to 14 weeks gestation, when the fetus begins to move, the movement of the head causes the jaw to "pop out' of the collar bones. From this time on, the jaw of the fetus grows as it would normally, with the result that, when born, the jaw of the baby is much smaller (micrognathia) than it would have been with normal development, although it does continue to grow at a normal rate until the child reaches maturity.
Associated Syndrome
@Stickler Syndrome
@Velocardiofacial Syndrome
@Fetal Alcohol Syndrome
@Treacher Collins Syndrome
Complication
The most important medical problems are difficulties in breathing and feeding. (needs assistance with feeding, for example needing to stay in a lateral position, needing specially adapted teats or spoons to feed, and often needing nasogastric feeding or supplemental feeding for periods due to slow feeding).
This is related to the difficulty in forming a vacuum in the oral cavity related to the cleft palate, as well as to breathing difficulty related to the posterior position of the tongue. Infants, when moderately to severely affected, may occasionally need nasopharyngeal cannulation more rarely endotracheal intubation or tracheostomy to overcome upper respiratory obstruction.
Treatment
In nasopharyngeal cannulation, the infant is fitted with a blunt-tipped length of surgical tubing, which is inserted into the nose and down the throat, ending just above the esophagus. Surgical threads fitted through holes in the outside end of the tube are attached to the cheek with a special skin-like adhesive material called 'stomahesive', which is also wrapped around the outside end of the tube (but not over the opening at the end) to keep the tube in place. This tube or cannula, which itself acts as an airway, primarily acts as a sort of "splint" which makes further airways on either side of the tube between the tongue and the throat wall, thus assisting the infant in breathing and preventing the tongue from falling back down into the throat, which would cause the infant to asphyxiate. Nasopharyngeal cannulation should be favoured over the other treatments mentioned in this article, as it is far less invasive, it allows the infant to feed without the further placement of a nasogastric tube, and the infant can be placed in the prone position without fear of asphyxiation. This treatment may be necessary for a period of up to six months or more, until the jaw has grown enough so that the tongue assumes a more normal position in the mouth and airway (at birth, the jaws of some infants are so underdeveloped that only the tip of the tongue can be seen when viewed in the throat).
Distraction osteogenesis (DO) can be used to correct abnormal smallness of one or both jaws seen in patients with Robin Sequence. Enlargement of the lower jaw brings the tongue forward, preventing it from obstructing the upper airway. The process of DO begins with preoperative assessment. Doctors use three dimensional imaging to identify the parts of the patient's facial skeleton that need repositioning and determine the magnitude and direction of distraction. They then select the most appropriate distraction device and sometimes have custom devises fabricated. When possible, intraoral devices are used.
DO surgery starts with an osteotomy (surgical division or sectioning of bone) followed by the distraction device being placed under the skin and across the osteotomy. A few days later, the two ends of the bone are very gradually pulled apart through continual adjustments that are made to the device by the parents at home. The adjustments are made by turning a small screw that protrudes through the skin, usually at a rate of 1 mm per day. This gradual distraction leads to formation of new bone between the two ends. After the process is complete, the osteotomy is allowed to heal over a period of six to eight weeks. A small second surgery is then performed to remove the device.
The cleft palate is generally repaired between the ages of 6 1/2 months and 2 years by a plastic or maxillofacial surgeon. In many centres there is now a cleft lip and palate team comprising both of these specialties, as well as a coordinator, a speech and language therapist, an orthodontist, sometimes a psychologist or other mental health specialist, an audiologist, an otorhinolaryngologist (ENT surgeon) and nursing staff. The glossoptosis and micrognathism generally do not require surgery, as they improve to some extent unaided, though the mandibular arch remains significantly smaller than average. In some cases jaw distraction is needed to aid in breathing and feeding. Lip-tongue attachment is performed in some centres, though its efficacy has been recently questionedWednesday
Meningism
Definition
Meningism is the triad of nuchal rigidity, photophobia (intolerance of bright light) and headache. It is a sign of irritation of the meninges, such as seen in meningitis, subarachnoid hemorrhages and various other diseases. "Meningismus" is the term used when the above listed symptoms are present without actual infection or inflammation; usually it is seen in concordance with other acute illnesses in the pediatric population. [1] Related clinical signs include Kernig's sign and three signs all named Brudzinski's sign.
Clinical Signs
The main clinical signs that indicate meningism are nuchal rigidity, Kernig's sign and Brudzinsky's signs. None of the signs are particularly sensitive; in adults with meningitis, nuchal rigidity was present in 30% and Kernig's or Brudzinsky's sign only in 5%.[2]
Nuchal rigidity
Nuchal rigidity is the inability to flex the head forward due to rigidity of the neck muscles; if flexion of the neck is painful but full range of motion is present, nuchal rigidity is absent.
Kernig's sign
Kernig's sign (after Woldemar Kernig (1840-1917), a Baltic German neurologist) is positive when the leg is fully bent in the hip and knee, and subsequent extension in the knee is painful (leading to resistance).[3]. This may indicate subarachnoid haemorrhage or meningitis.[4]. Patients may also show opisthotonus—spasm of the whole body that leads to legs and head being bent back and body bowed forward.[citation needed]
Brudzinski's signs
Josef Brudzinski (1874-1917), a Polish pediatrician, is credited with several signs in meningitis. The most commonly used sign (Brudzinski's neck sign) is the appearance of involuntary lifting of the legs in meningeal irritation when lifting a patient's head.[5][2]
Other signs attributed to Brudzinski:[6]
- The symphyseal sign, in which pressure on the pubic symphysis leads to abduction of the leg and reflexive hip and knee flexion.[7]
- The cheek sign, in which pressure on the cheek below the zygoma leads to rising and flexion in the forearm.[7]
- Brudzinski's reflex, in which passive flexion of one knee into the abdomen leads to involuntary flexion in the opposite leg, and stretching of a limb that was flexed leads to contralateral extension.[8]
Eisenmenger's Syndrome
Definition
A process in which a left-to-right shunt in the heart causes increased flow through the pulmonary vasculature, causing pulmonary hypertension, which in turn, causes increased pressures in the right side of the heart and reversal of the shunt into a right-to-left shunt.
Etiology
A number of congenital heart defects can cause Eisenmenger's syndrome, including atrial septal defects, ventricular septal defects, patent ductus arteriosus, and more complex types of acyanotic heart disease.
Pathogenesis
The left side of the heart supplies blood to the whole body, and as a result has higher pressures than the right side, which supplies only deoxygenated blood to the lungs. If a large anatomic defect exists between the sides of the heart, blood will flow from the left side to the right side. This results in high blood flow and pressure travelling through the lungs. The increased pressure causes damage to delicate capillaries, which then are replaced with scar tissue. Scar tissue does not contribute to oxygen transfer, therefore decreasing the useful volume of the pulmonary vasculature. The scar tissue also provides less flexibility than normal lung tissue, causing further increases in blood pressure, and the heart must pump harder to continue supplying the lungs, leading to damage of more capillaries.
The reduction in oxygen transfer reduces oxygen saturation in the blood, leading to increased production of red blood cells in an attempt to bring the oxygen saturation up. The excess of red blood cells is called polycythemia. Desperate for enough circulating oxygen, the body begins to dump immature red cells into the blood stream. Immature red cells are not as efficient at carrying oxygen as mature red cells, and they are less flexible, less able to easily squeeze through tiny capillaries in the lungs, and so contribute to death of pulmonary capillary beds. The increase in red blood cells also causes hyperviscosity syndrome.
A person with Eisenmenger's Syndrome is paradoxically subject to the possibility of both uncontrolled bleeding due to damaged capillaries and high pressure, and random clots due to hyperviscosity and stasis of blood. The rough places in the heart lining at the site of the septal defects/shunts tend to gather platelets and keep them out of circulation, and may be the source of random clots.
Eventually, due to increased resistance, pulmonary pressures may increase sufficiently to cause a reversal of blood flow, so blood begins to travel from the right side of the heart to the left side, and the body is supplied with deoxygenated blood, leading to cyanosis and resultant organ damage.
Treatment
In early childhood, surgical intervention can repair the heart defect, preventing most of the pathogenesis of Eisenmenger's syndrome. If treatment has not taken place, heart-lung transplant is required to fully treat the syndrome. If this option is not available, treatment is mostly palliative, using anticoagulants, pulmonary vasodilators such as bosentan, antibiotic prophylaxis to prevent endocarditis, phlebotomy to treat polycythemia, and maintaining proper fluid balance. These measures can prolong lifespan and improve quality of life.
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