Patient Presentation
A 1-day-old male was seen in the newborn nursery. He was doing well, breastfeeding and had only lost 1% of his body weight. The past medical history showed a 39-week gestation infant born to a G1P1 Hispanic mother without any pregnancy or delivery complications.

The pertinent physical exam showed his weight was 25%, length and head circumference were 50%. He had mild facial jaundice and had a ~3 cm, ovalish, light blue-grey, non-blanching lesion on his right buttock. The buttocks, spine and anus were otherwise normal as was the rest of his physical examination.

The diagnosis of a healthy male with congenital dermal melanocytosis (CDM) was made. The parents and medical student asked questions about what the CDM was and when it would go away. The resident reassured both that it was a common lesion and usually resolved over a year or more. “It doesn’t cause any problems but your doctor will continue to watch it with you as he grows,” he reassured the parents.

Discussion
Congenital dermal melanocytosis (CDM), also known as mongolian spots, are one of the most common dermal findings in infants and are often overlooked because they are so common. They commonly present at birth or soon after, and usually fade over the next few months and most are gone by 18 years. They are a grey/blue/black color that is non-blanching, usually with irregular borders and commonly appear in the lumbosacral area. They can occur in other locations including the back, extremities, abdomen and much less commonly, the face. The prevalence and incidence varies greatly among different races with CDM being less common in Caucasians and much more common in Black and Asian races. Superimposed lesions (i.e. CDM on top of another skin finding) does occur but is less common. Persistent, atypical CDM has been associated with lysosomal storage diseases and cleft lip. The differential diagnosis includes blue nevus, bruising/child maltreatment, capillary hemangioma, and oculodermal melanocytosis (Nevus of Ota).

Learning Point
A prospective study with followup of 1 year for 2313 infants in a tertiary care center in India found the following CDM characteristics: The authors note they have a diverse patient population that includes patients from all over India including those descended from different races.

Number	1 patch = 51.8%	> 1 patch = 48.2%	NA	NA
Size	< 5 cm = 61.1%	5-10 cm = 33%	> 10 cm = 5.8%	NA
Shape	Irregular = 64.4%	Oval = 16.8%	Round = 7.8%	Multiple shapes= 10.9%
Color	Blue-green = 37.9%	Dark blue = 31.9%	Light blue = 23.3%	Blue-black = 6.9%
Location at birth	Sacral only = 78.9%	Sacral & extrasacral = 18.3% Extremities = 78.6% esp. lower	Extrasacral only = 2.7%	NA
Resolution at 4 months	Persisted = 75.4%%	Fading = 11.5%	Resolved = 13.1%	NA
Resolution at 1 year	Persisted = 43.5%	Fading = 42.3%	Resolved = 14.2%	NA

This study also had 1 patient with superimposed skin findings. This has been reported in other studies.

Questions for Further Discussion
1. What are common skin lesions for major phakomatoses? A review can be found here
2. When is jaundice abnormal? Additional cases can be reviewed here
3. What is the natural history of capillary hemangiomas?

Related Cases

Disease: Congenital Dermal Melanocytosis or Mongolian Spots | Skin Pigmentation Disorders

Symptom/Presentation: Pigmentary Lesions

Specialty: Dermatology

Age: Newborn

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: BirthMarks

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Gupta D, Thappa DM. Mongolian Spots – A Prospective Study. Pediatr Dermatol. 2013;30(6):683-688. doi:10.1111/pde.12191

Musumeci ML, Lacarrubba F, Santagati C, Micali G. Multiple and superimposed Mongolian spots. BMJ Case Rep. 2013;2013:bcr2013200740. doi:10.1136/bcr-2013-200740

Alimi Y, Iwanaga J, Loukas M, et al. A comprehensive review of Mongolian spots with an update on atypical presentations. Childs Nerv Syst ChNS Off J Int Soc Pediatr Neurosurg. 2018;34(12). doi:10.1007/s00381-018-3929-0

Sharawat IK, Suthar R, Ahuja CK, Sankhyan N. Extensive Bluish-Black Spots. J Pediatr. 2018;198. doi:10.1016/j.jpeds.2018.02.067

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

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Patient Presentation
A 2.5-year-old male came to clinic for his health supervision visit. He was an only child, had moved many times since he was born, and had had only intermittent healthcare. His mother had no concerns about his health or development and described him as a happy child who would play by himself without causing problems. He liked to play with spinning or wheeled toys for long time periods. He had little contact with children of his own age and the adults were mainly family members who liked him because “he didn’t cause too many problems.” His mother said that he said a few words but didn’t put many together. Her main concern was that he spent a lot of time rocking his body wherever he was. It never bothered him or others, and he would stop if engaged. Once in a while, she said that he would also “twirl” his body around and occasionally would fall on the floor but never hurt himself. The past medical history revealed a term birth but with little prenatal care.

The pertinent physical exam showed a happy boy, who would rock in the chair or on the table if not actively engaged. His vital signs were normal and growth was 25% for all parameters. He would look at the examiner but only fleetingly, and would look and smile at his mother for longer. He would vocalize in the room but had no words. His neurological examination was normal but he also tended, but not always, to hold his elbows flexed with arms slightly extended from the body. His mother said she called him “her little bird,” when he would do this, and with questioning she did not describe any other movements of the arms or hands.

The diagnosis of a child who had neurodevelopmental delay in at least speech and socialization was noted, along with the body rocking sterotypie and arm positioning preference. The pediatrician discussed that the body rocking could be a way to ease boredom or to self-soothe but could also be a sign of a developmental problem, which he was worried about because of the speech delay and limited socialization seen in the office. The mother acknowledged that he did do some unusual things like the body rocking that she was worried about but she felt, “he just needs some more time to grow.” She agreed to receiving his routine health care including some catch-up vaccinations and referral for additional developmental evaluation. The patient’s clinical course reveled that he followed up once for additional vaccines and had started his evaluations including speech. He was lost to followup after that visit.

Discussion
Stereotypies are “…patterned, repetitive, purposeless, involuntary movements that are also rhythmic and continual and tend to change little over time.” They occur at all times of the day, and can get worse with stress or heightened emotions including happiness. Stereotypies more often occur in children with developmental disabilities (up to 61%), sensory impairments (e.g. blindness) or social deprivation. They can be present more often in patients with autism (up to 88%). They can be seen in ~7% of normally developing children too. Their onset is before age 3 years and tend to improve over years, but often persist into adulthood.

Examples of simple stereotypies including thumb sucking, nail biting, leg shaking, and teeth grinding. Complex motor sterotypies’ examples include hand flapping, arm waving, opening/closing of the hands or finger wiggling, orofacial movements and mouth opening.

Primary complex stereotypies occur in patients without an underlying neurodevelopmental condition whereas secondary occurs in those with other such conditions such as Lesch-Nyhan syndrome. Co-morbid diagnoses that can occur with sterotypies include attention deficit hyperactivity disorder, anxiety, obsessive-compulsive disorder, tics, developmental coordination disorder, and learning disorders.

Learning Point
Body rocking is a stereotypie that can be seen in different situations including:

• Self-stimulation, helps with boredom
• Self-soothing, helps with concentration
• Learned
• Situational
• Neurodevelopmental problems including Autism – for some Autism patients this may be a way to be able to pay more attention and process what is going on around them.
• Genetic – Angleman syndrome, Fragile X syndrome, Lesch-Nyhan syndrome, Cornelia de Lange syndrome, Rett syndrome, etc.

Body rocking differential diagnosis also includes seizures, motor tics and other movement disorders such as ataxia, dystonia, myoclonus, tremor, Tourette syndrome, rhythmic movement disorder

The Motor Sterotypy Severity Scale is one of several caregiver rating scales. It looks at the number of stereotypies, their frequency, intensity and how much they impair the patient globally. For example, this patient had only 1 identified sterotypie (body rocking), it very frequently but not always occurred, it was quite marked in intensity but wouldn’t cause injury to the patient, and at that time was causing only subtle to minor problems for the patient and family. Had the child been older or in an out-of-home setting, the behavior may potentially have caused additional problems for the child or family.

Questions for Further Discussion
1. What is the criteria for diagnosing autism spectrum disorder?
2. How does Fragile X syndrome present?
3. What developmental screening is recommended to be performed during health maintenance visits?
4. How often do you see sterotypies in your practice?

Related Cases

Disease: Body Rocking | Child Development | Child Mental Health

Symptom/Presentation: Developmental Delay | Health Maintenance and Disease Prevention

Specialty: Developmental Disabilities | Neurology / Neurosurgery

Age: Toddler

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Child Mental Health

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Katherine M. Stereotypic Movement Disorders. Semin Pediatr Neurol. 2018;25:19-24. doi:10.1016/j.spen.2017.12.004

Zalta A, Hou JC, Thonnat M, Bartolomei F, Morillon B, McGonigal A. Neural correlates of rhythmic rocking in prefrontal seizures. Neurophysiol Clin. 2020;50(5):331-338. doi:10.1016/j.neucli.2020.07.003

McCarty MJ, Brumback AC. Rethinking Stereotypies in Autism. Semin Pediatr Neurol. 2021;38:100897. doi:10.1016/j.spen.2021.100897

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Patient Presentation
A 9-month-old, previously healthy, male came to clinic for followup 2 days after being discharged from the pediatric intensive care unit (PICU). He had been diagnosed with croup as an outpatient in clinic and started on dexamethasone. That night he worsened and was taken to the emergency room and was admitted to the PICU because of respiratory distress. His physical examination at admission had a respiratory rate of 64 breaths/minutes, heart rate of 110 beats/minute, normal blood pressure and temperature and an oxygen saturation of 86-88% on room air. His weight was decreased by 560 grams from a recent previous weight. His capillary refill was 2-3 seconds and his lips were slightly dry. He had marked tracheal tugging, nasal flaring, intercostal retractions and abdominal breathing. He was not cyanotic. He had coughing and stridor. HEENT had rhinorrhea. Lungs had rales but no rhonchi. The laboratory evaluation had a respiratory swab that was positive for parainfluenza virus, a blood gas with hypoxemia and no hypercapnia, and a chest radiograph with diffuse interstitial markings.

The diagnosis of acute respiratory distress with pulmonary edema due to parainfluenza virus was made. Over the next 2 days the patient’s clinical course showed that he did not require mechanical ventilation but did require continuous positive airway pressure and supplemental oxygen up to 40%. He was slowly weaned off support and was transferred to the floor where he continued to receive intravenous fluids until he was able to maintain his hydration. He was discharged after 4 days.

The pertinent physical exam today showed a wary infant with normal vital signs and oxygen saturation of 94-97%. Weight was back to normal.
He had rhinorrhea and no stridor but did have a hoarse cry. His lungs had no adventitial breath sounds. The patient’s clinical course showed that he had been improving since discharge, and had no obvious respiratory or hydration problems at the time. He was also scheduled to follow-up with pulmonary medicine in 2 weeks.

Discussion
Pulmonary edema is a potentially life threatening condition due to accumulation of excess fluid in the alveolar spaces and walls of the lung.
Patients show increased respiratory effort or distress (e.g. tachypnea, dyspnea or difficulty talking, use of excessory muscles, nasal flaring, tracheal tugging, etc.) and clinicians should beware signs of tiring (e.g. bradypnea and decreased effort) as the patient may be failing. Patients may have rales or rhonchi on pulmonary examination, and pallor or color changes may be noted. Blood gas analysis shows evidence of hypoxemia and often hypercapnia depending on the severity and underlying cause.

As with most diseases and problems, treating the underlying cause is fundamental. In addition, ventilatory management (including potential ventilatory pressure) to maintain adequate gas exchange is key. Providing supplemental oxygen is primary for most situations. Newborns with ductal dependent lesions, and hyperoxia-induced pulmonary vasodilatation would be a two of exceptions. Oxygen should be administered in the least invasive and comfortable manner that supplies the necessary oxygen. Other methods to potentially improve gas exchange can include emptying the stomach or elevating the head of the bed or placing the patient in another position (e.g. prone).

An overview of croup can be found here.

Learning Point
Pulmonary edema is usually divided into two types: cardiogenic pulmonary edema, or non-cardiogenic pulmonary edema. Cardiogenic pulmonary edema is due to increased hypostatic pressure in the pulmonary circulation. Noncardiogenic pulmonary edema is caused by some type of lung injury which causes increased pulmonary vascular permeability with resultant increase in pulmonary vascular permeability and accumulating fluid.

Causes of pulmonary edema include:

• Acute respiratory distress syndrome (ARDS) is a common reason for pulmonary edema and “is a rapidly progressive noncardiogenic pulmonary edema that initially manifests as dyspnea, tachypnea and hypoxemia, and then quickly evolves into respiratory failure.”
  A diagnosis of ARDS in pediatric patients:
  • Occurs within 7 days of insult
  • The respiratory failure is not fully explained by cardiac failure or fluid overload
  • New pulmonary infiltrates consistent with parenchymal disease
  • Specific oxygenation levels need to be required depending on if the patient is mechanically ventilated and if there is other concomitant problems such as chronic lung disease, or heart disease (e.g. cyanotic congenital heart disease or left ventricular dysfunction).
• Cardiac
  • Congenital heart disease
  • Congestive heart disease/ Left ventricular failure
  • Pulmonary venous obstruction
• Infection
  • Pneumonia
  • Croup
  • Epiglottitis
• Pulmonary
  • Airway obstruction
  • Reexpansion after pneumothorax, effusion, atelectesis, tumor, surgery, etc.
    Reexpansion pulmonary edema is not very common but occurs after rapid reexpansion of the lung after a few days of collapse.
• Trauma
  • Burns
  • Chest
  • Inhalation
  • Neurogenic due to increased intracranial pressure. Neurogenic pulmonary edema can be hard to differentiate from cardiogenic pulmonary edema.
    The pathophysiology is not well understood but is thought to begin with increased intracranial pressure leading to increased catecholamines and sympathetic storm, which then leads to systemic vasoconstriction and accumulating blood in the pulmonary system. Increased blood leads to pulmonary hypertension, increased capillary permeability and thereby pulmonary edema.
  • Single or multiple organ system
• Miscellaneous
  • Acute mountain sickness
  • Heroin overdose
  • Transfusion reaction
  • Perinatal lung disease

Questions for Further Discussion
1. What are causes of respiratory failure? A review can be found here
2. What are indications for using dexamethasone? A review can be found here
3. What are normal blood gas values?
4. What is the difference between stridor and stertor? A review can be found here

Related Cases

Disease: Croup | Throat Disorders | Lung Diseases

Symptom/Presentation: Cough | Respiratory Distress | Stridor

Specialty: Critical Care | Allergy / Pulmonary Diseases | Infectious Diseases

Age: Infant

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Throat Disorders and Lung Diseases.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Kira S. Reexpansion pulmonary edema: review of pediatric cases. Paediatr Anaesth. 2014;24(3):249-256. doi:10.1111/pan.12283

Khemani RG, Smith LS, Zimmerman JJ, Erickson S, Group for the PALICC. Pediatric Acute Respiratory Distress Syndrome: Definition, Incidence, and Epidemiology: Proceedings From the Pediatric Acute Lung Injury Consensus Conference. Pediatr Crit Care Med. 2015;16(5_suppl):S23. doi:10.1097/PCC.0000000000000432

Hirsch AW, Nagler J. Reexpansion Pulmonary Edema in Pediatrics. Pediatr Emerg Care. 2018;34(3):216-220. doi:10.1097/PEC.0000000000001435

Simma L, Neuhaus TJ. Common diagnosis at an unusual age – pulmonary oedema in a toddler. BMJ Case Rep. Published online October 21, 2018:bcr-2018-225389. doi:10.1136/bcr-2018-225389

Saguil A, Fargo MV. Acute Respiratory Distress Syndrome: Diagnosis and Management. Am Fam Physician. 2020;101(12):730-738.

Lo-Cao E, Hall S, Parsell R, Dandie G, Fahlström A. Neurogenic pulmonary edema. Am J Emerg Med. 2021;45:678.e3-678.e5. doi:10.1016/j.ajem.2020.11.052

Saguil A, Fargo MV. Acute Respiratory Distress Syndrome: Diagnosis and Management. Am Fam Physician. 2020;101(12):730-738.

Malek R, Soufi S. Pulmonary Edema. In: StatPearls. StatPearls Publishing; 2022. Accessed February 6, 2023. http://www.ncbi.nlm.nih.gov/books/NBK557611/

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa