Branchial Cleft Cyst

Every so often, a pediatrician will encounter a child with a neck mass. The differential diagnosis for a neck mass is rather large, and some causes are quite frightening, but one of the best case scenarios is a simple branchial cleft anomaly. These are the culprit in 30% of reported neck masses.

Branchial cleft anomalies ocur due to a glitch in embryonic fetal development. Human fetuses begin with gills, much life fish, but they evolve into more complex structures such as facial muscles and bones, neck cartilage and major cardiac blood vessels. The anomalies appear as as cysts (no opening), fistulas (both internal and external opening) or sinuses (either internal or external openings).

 

There are four branchial cleft anomalies. Anomalies of the first arch manifest as external openings and affect either the parotid gland (cheek), ear or jaw. Anomalies of the second arch are usually cysts (95%) with no openings and occur at the level of the neck.  Anomalies of the third and fourth arches are very rare, occur on the left side (80%), and open internally at an area of the mouth called the piriform recess (90% of cases).

All branchial cleft masses can become complicated by infection, and may grow large enough to cause trouble with swallowing or breathing. They are, however, benign and can easily be removed operatively by a surgeon.

It is important for the pediatrician to consider other common causes of neck masses, such as thyroglossal duct cysts or thyroid nodules. More importantly, emergent causes of neck mass such as lymphadenitis or even malignancy should be ruled out before proceeding with treatment.

Reference
Branchial cleft anomalies. Dynamed database. Updated July 24, 2012. Accessed September 24, 2014.
 

What is Hirschsprung Disease?

Hirschsprung disease, also known as toxic megacolon, is a life threatening intestinal obstruction seen in children.

When a fetus is developing in the womb, each type of cell must successfully migrate to where it belongs and, once there, perform their assigned duties. In this case, the cells, neuroblasts, do not make it to their destination in the distal intestine or they arrive but forget to do their job.

The condition is relatively rare, only occurring in 1 in every 5,000 live births. It is four times more common in males, and the risk is increased in Down syndrome or if a family history is present.

One of the most telltale signs that an infant is suffering from Hirschsprung Disease is the failure of an infant to pass his or her first bowel movement, known as meconeum, within the first 24 hours of life. Other signs include abdominal distention, bilious (yellow bile) vomiting, jaundice and feeding intolerance.

Over 80% of cases occur in infants, but occasionally the condition is seen in older children. In these cases, the child may show signs of chronic constipation, abdominal distention, failure to thrive, fever, diarrhea, vomiting, explosive stools and/or overflow incontinence. These children typically have intermittent problems with having a proper bowel movement, often on laxatives to ease their pain.

The pediatrician will do a physical examination when he or she suspects intestinal obstruction, looking for abdominal distention and a tight anal sphincter. An abdominal x-ray will typically show a dilated section of bowel preceding the area of obstruction. If enterocolitis is ruled out, a contrast enema will be performed, though this test is only 70% sensitive (83% specific). The disease is confirmed by a pathologist following a suction rectal biopsy performed by a surgeon.

If the child is over 12 months old, this condition is very unlikely. Other conditions that may mimic this condition include functional constipation, medication side effects, lead poisoning, sepsis, intussusception, meconeum ileus, meckel diverticulum, hypothyroidism and intestinal malrotation, atresia or stenosis.

Studies have shown that these infants, especially if preterm, also have an increased risk for other congenital abnormalities, such as heart problems, so a doctor may decide to do a thorough workup.

The immediate treatment for Hirschsprung Disease is to “decompress” the bowel obstruction using a nasogastric tube, antibiotics and IV fluids. Once the child is stable, a surgeon will fix the abnormality by removing the affected area of bowel (Pull-through procedure). If the surgery is successful and infection (enterocolitis) is avoided, the prognosis is excellent (<1% mortality) and the child will live a normal life.

Reference

Hirschsprung Disease. DynaMed Database Accessed May 23, 2014, Updated January 24, 2013.

The New Electrolarynx For Intubated Patients

The New England Journal of Medicine (NEJM) recently published an exciting article showcasing some breakthrough technology: physicians successfully used a device called an electrolarynx, allowing an intubated patient to communicate with his providers and family members. If you've ever had to witness a loved one in a setting where they were intubated, you know how frustrating it can be for the patient, family and staff.  This new technology will be extremely helpful in intensive are unit (ICU) settings where doctors can change their treatment regimens based on feedback from the patient, improving care tremendously. The patient and device (white arrow) can be seen below.

Read the article here:
http://www.nejm.org/doi/full/10.1056/NEJMc1313379