Pterygium colli deformity (well what I meant was - Webbed Neck!)

Congenital skin fold that runs along the sides of the neck down to the shoulders. 

This is seen in Turner syndrome and Noonan syndrome, and  Klippel-Feil syndrome

In the newborn period, webbed neck is the loose folds of skin on the neck. 
As the child grows, the skin may stretch out to look like there is either a very short neck or no neck at all.

A 12-year-old female with Noonan syndrome exhibiting a typical webbed neck.
Picture courtesy: Wiki commons

Paul-Bunnell test - The other name for MONOSPOT test

The mononucleosis spot test looks for two antibodies in the blood that indicate infection with the Epstein-Barr virus (EBV).
. It is used to diagnosis infectious mononucleosis, a disease caused by the Epstein-Barr virus (EBV). About 1 week after the onset of the disease, many patients develop heterophile antibodies. Antibodies reach peak levels in 2 - 5 weeks and may persist for up to 1 year. However, a small number of persons with mononucleosis may never develop such antibodies.
Monospot tests are usually positive in approximately 85% of patients with infectious mononucleosis. Positive test results will not occur until 1 - 2 weeks into the illness.

False-positive results may be occur in persons with:

• Hepatitis
• Leukemia or lymphoma
• Rubella
• Systemic lupus erythematosus (SLE)

COURTESY: http://www.nlm.nih.gov

Algorithm for the management of suspected infectious mononucleosis. (IM = infectious mononucleosis; GABHS = group A β-hemolytic streptococcus; VCA = viral capsid antigen; EBV = Epstein-Barr virus)

Courtesy: http://www.aafp.org/afp/2004/1001/p1279.html

GOT SALT? Sodium Claims on Food Labels Claim - What they really mean?

Sodium Claims on Food Labels Claim
Explains what sodium claims on food labels such as “sodium-free” or “low-sodium” mean, as defined in federal guidelines.


“Sodium-free”:                                                  Less than 5 mg sodium per serving
“Salt-free”:                                                          Meets requirements for sodium-free
“Low-sodium”:                                                  140 mg sodium or less per serving
“Very low sodium”:                                          35 mg sodium or less per serving
“Reduced sodium”:                                          At least 25 percent less sodium when compared with the   regular version
“Light in sodium”:                                            50 percent less sodium per serving; restricted to foods with more than 40 calories per serving
“Unsalted, no added salt: not a 
sodium-free food”:                                           No salt is added during processing; the labeled product resembles or substitutes for another product that is normally processed with salt


Source: United States Food and Drug Administration (FDA) Food Labeling Guide. IX. Appendix A: Definitions of Nutrient Content Claims. FDA website.www.fda.gov/Food/GuidanceComplianceRegulatoryInformation/GuidanceDocuments/FoodLabelingNutrition/FoodLabelingGuide/ucm064911.htm. Revised April 2008. Accessed June 21, 2010.

As a rough guide, the maximum amount of salt for babies and children is: (source: national health service, UK

• less than 1g (0.4g sodium) a day from 0-12 months,
• 2g (0.8g sodium) a day from 1-3 years,
• 3g (1.2g sodium) a day from 4-6 years,
• 5g (2g sodium) a day from 7-10 years, and
• 6g (2.4g sodium) a day from 11 years.

Source: CDC

Current dietary guidelines recommend that adults in general should consume no more than 2,300 mg of sodium per day. However, if you are in the following population groups, you should consume no more than 1,500 mg per day.

• You are 40 years of age or older.
• You are African American.
• You have high blood pressure.

Tips for Reducing Sodium in Your Diet

	Buy fresh, plain frozen, or canned "with no salt added" vegetables.
	Use fresh poultry, fish, and lean meat, rather than canned or processed types.
	Use herbs, spices, and salt-free seasoning blends in cooking and at the table.
	Cook rice, pasta, and hot cereals without salt. Cut back on instant or flavored rice, pasta, and cereal mixes, which usually have added salt.
	Choose "convenience" foods that are lower in sodium. Cut back on frozen dinners, pizza, packaged mixes, canned soups or broths, and salad dressings — these often have a lot of sodium.
	Rinse canned foods, such as tuna, to remove some sodium.
	When available, buy low- or reduced-sodium, or no-salt-added versions of foods.
	Choose ready-to-eat breakfast cereals that are lower in sodium.

Source:  http://www.nhlbi.nih.gov/hbp/prevent/sodium/tips.htm

Cri du chat syndrome

Information Courtesy: www.ncbi.nlm.nih.gov
Photo: Wikipedia


Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome
The syndrome’s name is based on the infant’s cry, which is high-pitched and sounds like a cat.

• Cry that is high-pitched and sounds like a cat
• Downward slant to the eyes
• Low birth weight and slow growth
• Low-set or abnormally shaped ears
• Mental retardation (intellectual disability)
• Partial webbing or fusing of fingers or toes
• Single line in the palm of the hand
• Skin tags just in front of the ear
• Slow or incomplete development of motor skills
• Small head (microcephaly)
• Small jaw (micrognathia)
• Wide-set eyes
  Intellectual disability (mental retardation) is common. Half of children with this syndrome learn enough verbal skills to communicate. The cat-like cry becomes less noticeable over time.

  Support Groups

  5p- Society -- www.fivepminus.org
  
  Facial features of a patient with Cri du Chat syndrome at age of 8 months (A), 2 years (B), 4 years (C) and 9 years (D)

Cystic Hygroma

A cystic hygroma is a congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck.his is the most common form of lymphangioma
Cystic hygromas occur in approximately 1% of fetuses between weeks 9 and 16 of pregnancy
Cystic hygromas can occur as an isolated finding or in association with other birth defect. Because the risk for a chromosome abnormality approaches 50% when a cystic hygroma is found prenatally, amniocentesis or CVS (chorionic villus sampling) can be performed to diagnose these conditions.Cystic hygromas that develop in the third trimester (after thirty weeks gestation) or in the postnatal period are usually not associated with chromosome abnormalities. There is a chance of recurrence after surgical removal of the cystic hygroma.
A common association is Turner Syndrome. Severe form of this is HYDROPS.

Image Courtesy: DermAtlas

Video: Youtube

Marfan Syndrome

Marfan syndrome  an autosomal dominant genetic disorder of the connective tissue caused by mutations in the FBN1 gene on chromosome 15. People with Marfan's tend to be unusually tall, with long limbs and long, thin finger with dislocated lenses and aortic root dilation 

FBN1, which encodes a connective protein called fibrillin-1

The Fibrillin 1 protein is essential for the proper formation of the extracellular matrix including the biogenesis and maintenance of elastic fibers. The extracellular matrix is critical for both the structural integrity of connective tissue but also serves as a reservoir for growth factors

In addition to being a connective protein that forms the structural support for tissues outside the cell, the normal fibrillin-1 protein binds to another protein, transforming growth factor beta (TGF-β)..TGF-β has deleterious effects on vascular smooth muscle development and the integrity of the extracellular matrix.Secondary to mutated fibrillin there is excessive TGF-β at the lungs, heart valves, and aorta, and this weakens the tissues and causes the features of Marfan syndrome.

Lens Dislocation:

In Marfan's the dislocation is typically superotemporal whereas in  homocystinuria, the dislocation is inferonasal.

The Steinberg sign & Walker-Murdoch sign.

THE STEINBERG SIGN (a):

This test is used for the clinical evaluation of Marfan patients.

Procedure:
Instruct the patient to fold his thumb into the closed fist. This test is positive if the thumb tip extends from palm of hand (see figure a).

THE WALKER-MURDOCH SIGN (b):

This test is used for the evaluation of patients with Marfan syndrome.

Procedure:
Instruct the patient to grip his wrist with his opposite hand. If thumb and fifth finger of the hand overlap with each other, this represents a positive Walker-Murdoch sign (see figure b).

Courtesy: http://palmreadingperspectives.wordpress.com/2011/05/20/hands-signs-in-marfan-syndrome-thin-fingers-hand-shape-hypermobility/ and wikipedia

Wolff–Parkinson–White syndrome

Wolff-Parkinson-White syndrome is a heart condition in which there is an extra electrical pathway (circuit) in the heart. The condition can lead to episodes of rapid heart rate
Wolff-Parkinson-White is one of the most common causes of fast heart rate disorders in infants and children.
In people with Wolff-Parkinson-White syndrome, there is an extra, or accessory, pathway that may cause a very rapid heart rate. This is called supraventricular tachycardia.
ECG  may show an abnormality called a "delta" wave. ( see the short PR interval)

Intracardiac electrophysiology study (EPS) : May be needed sometimes to make the diagnosis. The study involves placing wire electrodes in the heart to check for abnormal heartbeats or heart rhythms.

Medication may be used to control or prevent rapid heart beating. These include adenosine, antiarrhythmics, and amiodarone.

 electricalcardioversion may be needed in some

The current preferred therapy for Wolff-Parkinson-White syndrome is catheter ablation (success rate for the procedure ranges between 85 - 95%). The small area that is causing the fast heart rate is destroyed using radiofrequency.

Rarely surgery is needed

 Success rate of Catheter ablation will vary depending on location of accessory pathway and number of accessory pathways.

Courtesy: http://en.wikipedia.org/wiki/Wolff%E2%80%93Parkinson%E2%80%93White_syndrome, http://www.nlm.nih.gov/medlineplus/ency/article/000151.htm AND http://pedicardiology-bala.blogspot.com/2011/08/ekg-wpw-syndrome.html