Berkowitz’s – Section IV: Head, Neck & Respiratory System

Approach to the Dysmorphic Child

Julie E. Noble, MD
CASE STUDY
A 13-year-old boy presents to the office for the first time for an evaluation after moving to the area. Parents note that he has unexplained intellectual disability and has had problems with hyperactivity in school. The pregnancy was uncomplicated and the mother, who was a 32-yearold gravida 1, para 1 at the time of the child’s birth, denies alcohol or drug use or exposure to any teratogens during pregnancy. Delivery was by cesarean birth secondary to cephalopelvic disproportion, but Apgar scores were 8 at 1 minute and 9 at 5 minutes. The newborn was noted to have macrocephaly and to be large for gestational age. He did well in the newborn period and had no feeding problems. Subsequently, he had no significant medical illnesses, including no seizures, but at 1 year of age was noted to be developmentally delayed. This delay continued, and he has been in special education classes throughout his school career. Family history is negative for any family members with disabilities. On physical examination, the boy is greater than 90th percentile for height and weight. He is mildly prognathic with large ears. He has hyperextensible fingers. A complete examination reveals that his testicles appear large (6 cm) and his sexual maturity rating (Tanner stage) is 3. The rest of the examination is normal.
Questions
1. What history is important to elicit in evaluating a child with dysmorphic features?
2. What are the possible causes of errors in morphogenesis?
3. What clues on physical examination can aid in establishing a specific diagnosis?
4. What laboratory tests can confirm a diagnosis?
5. When is it appropriate to obtain a genetics consultation or refer a patient for genetic counseling?
6. What are the benefits of establishing a specific diagnosis?

Craniofacial Anomalies

Carol D. Berkowitz, MD
CASE STUDY
A 3,500-g boy is born by normal spontaneous vaginal delivery to a 28-year-old gravida 3, para 3 mother after an uncomplicated full-term gestation. Apgar scores are 9 and 10. On physical examination, the newborn is well but has an incomplete, left-sided unilateral cleft of the lip and palate. No other family members have such a deformity, but the mother and father are distantly related. The mother had prenatal care. During the pregnancy she had no illnesses, took vitamins but no other medications, and did not smoke, drink alcohol, or use illicit drugs. The mother is planning to feed the newborn with formula and wonders if she should do anything special. She is also wondering if her son’s lip deformity can be repaired before she takes him home from the hospital. Except for the cleft, the physical examination is normal.
Questions
1. What craniofacial anomalies are common in children?
2. What are feeding considerations in newborns with cleft lip or palate?
3. What is the appropriate timing of surgery for the more common craniofacial anomalies?
4. What are the major medical problems that children with craniofacial anomalies, particularly clefts of the lip or palate, experience?
5. What is positional plagiocephaly? How is its prevalence related to the Back to Sleep campaign?

Common Oral Lesions

Charlotte W. Lewis, MD, MPH
CASE STUDY
A 7-year-old girl is brought to the office for evaluation of a swelling on the inside of her lower lip of 4 to 6 weeks’ duration. Her mother reports that it increases and decreases in size. The girl says that the swelling is not painful, and she cannot remember hurting her lower lip. On examination, a raised, bluish, non-tender, 1 x 1 cm swelling is apparent along the mucosa of the lower lip. Questions
1. What is the differential diagnosis of lip masses?
2. What laboratory or radiographic tests are useful in the evaluation of oral lesions?
3. What management strategies are used to treat cyst-like oral lesions?
4. When should children with oral lesions be referred to subspecialists?

Otitis Media

Nasser Redjal, MD
CASE STUDY
An 18-month-old boy is brought to your office with a 2-day history of fever and decreased food intake. He has had symptoms of an upper respiratory infection for the past 4 days but no vomiting or diarrhea. Otherwise, he is healthy. The child appears tired but not toxic. On physical examination, the vital signs are normal except for a temperature of 101°F (38.3°C). The left tympanic membrane (TM) is erythematous and bulging, with yellow pus behind the membrane. The light reflex is splayed, and mobility is decreased. The right TM is gray and mobile, with a sharp light reflex. The neck is supple with shotty anterior cervical adenopathy, and the lungs are clear. He has a 10- to 15-word vocabulary, and no one smokes in the household.
Questions
1. What are the differences between acute, persistent, and recurrent otitis media (OM)?
2. What factors predispose to the development of ear infections?
3. What are the most common presenting signs and symptoms of an ear infection in infants, older children, and adolescents?
4. How do the treatment considerations differ between acute, persistent, and recurrent ear infections?
5. What are some of the complications of OM?

Hearing Impairments

Julie E. Noble, MD
CASE STUDY
A 15-month-old girl is brought to the office because her parents are concerned that she has not yet begun to speak. The child was the full-term product of an uncomplicated pregnancy. Her 25-year-old mother, who began to receive regular prenatal care during the second month of gestation, had no documented infections during the pregnancy, took no medications, and has denied using
illicit drugs or alcohol. The child was delivered at home by a midwife and a newborn hearing screening was never done. The 27-year-old father is reportedly healthy. There is no family history of deafness, intellectual disability, or consanguinity. The girl, who is otherwise healthy, has never been hospitalized, but she has had 3 documented ear infections. She rolled over at 4 to 5 months of age, sat at 7 months, and walked at 13 months. She is able to scribble. The parents report that their daughter smiles appropriately, laughs occasionally, and plays well with other children. As an infant, the girl cooed and babbled, but she now points and grunts to indicate her needs. She does not respond to loud noises by turning her head. The child’s growth parameters, including head circumference, are normal for age. The rest of the physical examination is unremarkable.
Questions
1. When should deafness be suspected in infants or children?
2. What is the relationship between hearing loss and language development?
3. What are the major causes of deafness in children?
4. What neonates are at risk for the development of hearing deficits?
5. What methods are currently available to evaluate hearing in infants and children?
6. What are the important issues to address with families who have infants or children with suspected hearing impairment?

Sore Throat

Stanley H. Inkelis, MD, and Casey Buitenhuys, MD
CASE STUDY
An 8-year-old girl has had a sore throat and fever for 2 days. She also has pain on swallowing, a headache, and a feeling of general malaise but no stridor, drooling, breathing difficulty, or rash. Other than the current illness, the girl is in good health. Although she has had sore throats in the past, she has never had one this severe. One week ago, her mother and father had sore throats and
fever that resolved after 5 days with no medication. The child has a temperature of 102.2°F (39.0°C). The physical examination is normal except for red tonsils with exudate bilaterally, palatal petechiae, and tender cervical lymphadenopathy.
Questions
1. What are the causes of sore throat in children?
2. What is the appropriate evaluation of children with sore throat? What laboratory tests are necessary?
3. What is the appropriate management for children with sore throat?
4. When should otolaryngologic consultation be obtained?

Nosebleeds

Katherine E. Remick, MD, and Stanley H. Inkelis, MD
CASE STUDY
A 3-year-old boy is brought to the office one winter day. He has had 4 nosebleeds in the past week as well as a cold with a runny nose and cough, which began the day before the first nosebleed. The nosebleeds occurred at night or during sleep and stopped spontaneously or with gentle pressure. Other than the cold and nosebleeds, the boy is in good health. He is active, with bruises over both tibias but none elsewhere. The many cuts and scrapes he has had in the past resulted in minimal bleeding. His family has no history of a bleeding disorder or easy bruising. The child’s physical examination is entirely normal except for a small amount of blood in the left anterior naris.
Questions
1. What are the common causes of nosebleeds in children?
2. What systemic diseases are associated with nosebleeds?
3. How should nosebleeds be evaluated in children?
4. How should minor and severe nosebleeds be managed in children?

Strabismus

Teresa Rosales, MD
CASE STUDY
The mother of an 8-month-old complains that every time her son looks to either side, his eyes seem crossed. Otherwise, he is growing and developing normally. A symmetric pupillary light reflex, bilateral red reflex, and normal extraocular eye movements in all directions are noted on physical examination of the eyes.
Questions
1. What is strabismus?
2. What conditions make infants’ eyes appear crossed? What is the differential diagnosis?
3. What tests are used in the office evaluation of children suspected of having strabismus?
4. Which infants with crossed eyes require referral for further evaluation and treatment?

Infections of the Eye

Teresa Rosales, MD
CASE STUDY
A 10-day-old has a 1-day history of red, watery eyes and nonproductive cough with no fever. The girl is breastfed and continues to eat well. She was the 7-lb, 2-oz (3,238-g) product of a term gestation, born via normal spontaneous vaginal delivery without complications to a 26-year-old woman. The pregnancy was also uncomplicated. No one at home is ill. On examination, the infant is afebrile with normal vital signs. Examination of the eyes reveals bilateral conjunctival injection with only a mild amount of purulent discharge. Bilateral red reflexes are present. The rest of the physical examination is within normal limits.
Questions
1. What is the differential diagnosis of conjunctivitis during and following the neonatal period?
2. What laboratory tests, if any, should be performed?
3. When is a chest radiograph indicated in the evaluation of neonates with conjunctivitis?
4. What are management strategies for eye infections?

Excessive Tearing

Teresa Rosales, MD
CASE STUDY
A 4-week-old girl has had a persistent watery discharge from both eyes since birth. Her mother has noticed white, crusty material on her daughter’s eyelids for the past few days. The infant’s birth and medical history are unremarkable. Examination of the eyes, including bilateral red reflexes and symmetric extraocular movements, is normal, except that the left eye appears ”wetter” than the
right.
Questions
1. What is the differential diagnosis of excessive tearing in infancy?
2. How do physical findings such as corneal enlargement and haziness influence the differential diagnosis?
3. How should infants with excessive tearing be managed?
4. When should a child with excessive tearing be referred to an ophthalmologist?

Neck Masses

Casey Buitenhuys, MD, and Stanley H. Inkelis, MD
CASE STUDY
A 2-year-old boy is brought to the office with a 1-day history of an enlarging red, tender “bump” beneath his right mandible. He has a fever (temperature 101.6°F [38.5°C]) and sores around his nose, upper lip, and cheek. These sores have been present for 3 days and have not responded to an over-the-counter antibiotic ointment. He had an upper respiratory tract infection 1 week ago, which has almost entirely resolved. He is otherwise in good health. The family has no history of tuberculosis or recent travel, and the child has not been playing with cats or other animals.
The physical examination is completely normal except for fever, mild rhinorrhea, honey-crusted lesions on the nares and upper lip, and a 4 3 5-cm, right submandibular neck mass that is erythematous, warm, and tender to palpation.
Questions
1. What are the common causes of neck masses in children?
2. What steps are involved in the evaluation of children with neck masses?
3. What clinical findings suggest that neck masses are neoplasms? When should neck masses be biopsied or removed?
4. What is involved in the treatment of the different types of neck masses in children?
5. When should children with neck masses be referred for further consultation?

Allergic Disease

Kenny Yat-Choi Kwong, MD, and Nasser Redjal, MD
CASE STUDY
A 3-year-old girl is rushed to the office by her mother after her daughter developed a pruritic rash, facial swelling, and hoarseness shortly after eating a peanut butter sandwich. She had eaten peanut butter once before and her parents noticed a few small hives on her cheek, which self-resolved. Previously, she has been well except for recurrent nasal congestion every spring that has responded to antihistamines. She has also had an intermittent skin rash that has been treated with topical steroid creams. She has never had an acute reaction before and has no history of asthma. Her father had asthma as a child. Physical examination reveals a well-developed, 3-year-old girl with marked facial swelling and a generalized rash who is in mild respiratory distress. Vital signs,
including blood pressure, are normal. The girl has a diffuse, blotchy, erythematous rash with central wheals; a hoarse voice; and a mild expiratory wheeze on auscultation of her chest. The remainder of the examination is normal.
Questions
1. What are the various symptoms of allergic disease?
2. What is the appropriate evaluation of children with manifestations of allergic disease?
3. What allergens are common triggers for allergic symptoms?
4. What management is helpful in the treatment of children with manifestations of allergic disease?
5. Can allergic disease be prevented?

Wheezing and Asthma

Nasser Redjal, MD, and Kenny Yat-Choi Kwong, MD
CASE STUDY
A 7-year-old boy is referred to the office after being seen in the emergency department (ED) for wheezing. He has been treated in the ED for wheezing 4 times in the past month and was once hospitalized for 3 days. The boy’s father and paternal grandmother both have asthma. The child’s physical examination is remarkable for end-expiratory wheezing on forced expiration.
Questions
1. What are the most common causes of wheezing in infants and children?
2. What are the causes of reversible bronchospasm?
3. What is the pathophysiology of reversible bronchospasm?
4. How should children with asthma be managed?

Cough

Nasser Redjal, MD, and Kenny Yat-Choi Kwong, MD
CASE STUDY
A 3-year-old boy presents with a cough that he has had for 4 weeks. In the past, he has had coughs with colds, but this cough is persistent and deeper in quality. The cough seemed to develop suddenly when he was playing at a friend’s house. It occurs all day and disrupts his sleep at night. The boy has had no nasal congestion, fever, or sore throat. No one at home is coughing, and the boy has not traveled recently. Neither the boy nor his family has a history of allergies or asthma. Over-the-counter cough preparations have not helped relieve his symptoms. On examination, growth parameters are normal. The child has a persistent cough with no respiratory distress. Chest examination reveals a normal respiratory rate, no retractions, and no use of accessory muscles, but diffuse expiratory wheezing is noted in the right lower lobe. The remainder of the examination is normal.
Questions
1. What are common parental concerns about cough?
2. What diagnoses in children with persistent cough should be considered?
3. What historical factors and physical findings are important to determine the etiology of cough?
4. What diagnostic workup is appropriate?
5. How should children with chronic cough be managed?