What Causes Macrocephaly?

Patient Presentation
A 4-month-old male came to clinic for his health maintenance visit. His parents had no concerns. He was smiling, rolling over, cooing and interacting with people. He was exclusively breastfed. The past medical history showed a full-term infant born without complications around the 50% for weight and length but larger for head circumference (= 36 cm, 85%). The family history was positive for a 3 year old sister with a larger head but no records were available.

The pertinent physical exam showed a happy infant with weight 7.795 kg (75-90%), length 64.5 cm (75%) and head circumference was 44.5 cm (>90%) using World Health Organization growth charts. At 2 months his head circumference had been 40.5 cm (75-90%) for a growth velocity of 2 cm/month for the previous 2 months. His anterior fontanel was 1 cm and flat, and he had no plagiocephaly. Cranial nerves were normal with good tone and strength. He had no head lag. Deep tendon reflexes were +2/+2. The rest of his physical examination was normal.

The diagnosis of a healthy infant with an enlarging head but normal physical examination and development was made. His father’s head circumference was 60 cm (>90%) and his mother’s was 58 cm (>90%). The diagnosis of presumed familial megalencephaly was made with this information. The family was given tape measures and shown how to measure the infant’s head. They did this weekly over the next 6 weeks and the growth velocity was ~0.25 cm/week. Re-evaluation at 6 months of age again showed a healthy male infant with normal development and a head circumference of 46.5 cm (90%). At 9 months of age his head circumference was 47.5 (again 90%) and he continued to be physically and developmentally normal.

Discussion
“Macrocephaly is defined as [an occipitofrontal circumference or head circumference, OFC ] of > 2 standard deviations above the mean or above the 97th percentage for a given age, and gender, or when serial measurement shows progressive enlargement, crossing of one or more major percentiles, or when there is an increase in OFC > 2 cm/month in the first 6 months of life.” Megalencephaly is enlargement of the brain parenchyma. The OFC should be measured using a non-elastic tape which surrounds the head along the line of the glabella and posterior occipital protrusion.

There are ethnic differences for head circumferences so the growth chart that best matches the child’s family heritage should be used. A review of the best growth charts can be found here.

General averages for OFC increase are:

  • Average at birth = ~35 cm
  • 0-3 months = 2 cm/month (average 3 month old is ~ 41 cm)
  • 0-1 year = 1 cm/month (average 1 year old is ~ 47 cm)
  • > 1 year = only another 8 cm total (average adult is ~ 55 cm)

A review of the other growth parameters can be found here.

Patients should be evaluated for developmental delay, signs of intracranial infection or trauma, syndromic features, and family history of cutaneous or neurological abnormalities. Children with non-full fontanels, normal mentation and no signs of developmental delay are more likely to have familial, isolated or benign enlargement of the subarachnoid space. Changes in mentation, developmental delay and full fontanels are more likely to have a serious cause of hydrocephalus.

More evaluation may be necessary if abnormalities are found on history and physical exam and should guide that evaluation such as cranial ultrasound or other imaging depending on age and circumstances, bone radiographs, or metabolic evaluation (e.g. Vitamin D level).

Learning Point
The differential diagnosis of macrocephaly includes:

  • Brain parenchyma enlargement
    • Familial/genetic – parents/family also with macrocephaly in an otherwise normal child (63.3%)
    • Isolated – parents and family without macrocephaly in an otherwise normal child (20%)
    • Genetic
      • Autism spectrum disorder (1.1%)
      • Bone dysplasia – achrondroplasia (1.1%), hypochrondroplasia(1.1%)
      • Fragile X – OFC may be enlarged but may not be > 2 standard deviations
      • Neurocutaneous disorders – neurofibromatosis, tuberous sclerosis
      • Overgrowth disorders
    • Metabolic diseases
      • Gangiosidosis
      • Leukodystrophies
      • Rickets (1.1%)
  • Increased cerebrospinal fluid
    • Benign enlargement of the subarachnoid space (BESS or benign external hydrocephalus) (2.2%)
    • Choroid plexus cyst (1.1%)
    • Hydrocephalus – obstructive or communicating (8.9%)
  • Increased blood
    • Subdural hematoma
    • Arteriovenous malformation
  • Increased intracranial pressure
    • Pseudotumor cerebri
    • Infection
    • Inflammation
    • Vitamin A deficiency or excess
  • Bone enlargement
    • Thalassemia
    • Bone dysplasia
  • Masses
    • Brain tumor
    • Arteriovenous malformation

Note: Number in parentheses is from a 2018 study of 90 Turkish children in a well child clinic. Many other studies are from referral clinics such as neurology, neurosurgery or developmental disabilities which will cite different numbers that correspond to their referral population.

Questions for Further Discussion
1. What are the causes of microcephaly? A review can be found here.

2. What are causes of a bulging anterior fontanel? A review can be found here.

3. When do the fontanels normally close? here A review can be found here.

Related Cases

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: Brain Malformations

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.

Tucker J, Choudhary AK, Piatt J. Macrocephaly in infancy: benign enlargement of the subarachnoid spaces and subdural collections. J Neurosurg Pediatr. 2016 Jul;18(1):16-20.

Kurata H, Shirai K, Saito Y, Okazaki T, Ohno K, Oguri M, Adachi K, Nanba E, Maegaki Y. Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis. Brain Dev. 2018 Jan;40(1):36-41.

Yilmazbas P, Gokcay G, Eren T, Karapınar E, Kural B. Macrocephaly diagnosed during well child visits. Pediatr Int. 2018 May;60(5):474-477.

Boom JA. Macrocephaly in infants and children: Etiology and evaluation. UpToDate. (rev. 12/8/2017, cited 2/4/2019).

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

What Are Barriers and Facilitators of Transitioning Youth to an Adult Health Care Provider?

Patient Presentation
A 19-year-old male came to clinic for his health supervision visit. He had no concerns but was traveling overseas for a college trip and needed a health care form filled out. He denied any high risk social activities, had recently seen a dentist and always wore a seat belt in a car. The past medical history was not contributory. The pertinent physical exam showed a healthy male without abnormalities.

The diagnosis of a healthy male was made. He had previously completed all of his adolescent health screening and was current with all of his immunizations. He did not need additional vaccinations for his travel. His pediatrician filled out his health form and brought up the idea of transitioning to an adult health care provider. “You are a healthy person and are doing pretty well to keep your body that way. You are making good decisions about alcohol, drugs and your sexual health. We’ve talked before, but I want you to think about where you might want to get your health care in the future. I’m not kicking you out of my practice, but this a good time to really think about what you want to do next year. I have a couple of adult doctors who really like working with young adults like yourself. I’ll write their names down on your going home papers. Next year when its time for your physical you can go and see one of them if you want. I’ll still be here if you want to see me too or if you need me before you change doctors, but you’ll need to transition to an adult doctor in the next couple of years.”

Discussion

Transitioning patients within or across health care facilities is a complex process. It is not a single step or point in time. For many patients the transition from pediatric to adult health care can be uncomplicated as patients and health care providers are ready for the transition and are seeking it. It should be a part of “developmental milestone” for adolescent visits. Asking adolescents about their future plans especially after high school or college often easily segues into this discussion easily. For other patients and families, there is anxiety and fear about the transition process. For youth with special health care needs (YSHCN) the process can be complicated.

It is estimated that ~18% of 12-18 year olds in the US are YSHCN. Of these, it is estimated that only 40% receive transitional services to adult health care, and delays in doing so result in > 400,000 of these individuals remaining in pediatric care. A 2013 national study of YSHCN defined a successful transition to adult health care as having a usual health care source or personal doctor or nurse, having a provider who provides adult care, had health insurance that met their needs, one preventive health care visit in the past 12 months, and had not delayed or foregone needed health care services in past 12 months, and the patient was satisfied with health care services. Patients were more likely to successfully transition if they were female, received all routine preventive childhood care, able to see the providers they needed, had insurance during childhood to get them the care they needed, had health care providers that listened carefully to them and their families, and had a mother with a college education.

The best time for the actual transition has not been identified, but studies suggest that starting discussions in early teens or at time of diagnosis is appropriate. For YSHCN who have intellectual disabilities, guardianship after the age of majority needs to be discussed early, so families can consider and execute the appropriate legal documents to ensure seemless legal decision making capability for their son/daughter. For all patients starting early, allow the patient to gradually develop self-advocacy and self-management skills with supervision by family and health care providers. Some studies prefer the actual transition to be based chronological age (mid-teen to early 20s) but others prefer maturity level. Most transitions occur in the high school to early 20s age group.

People involved have different perspectives about it. Patients are often vary worried about the transition, whether they will be accepted by adult health care providers, or will they have adequate or any insurance. They note the difference in the health care delivery environment.

Parents often find the transition even more challenging than their children. They worry about their son/daughters health, future, their own “losses” as their child becomes more independent, the pediatric health care provider is gone, and the adult health care provider is not including them in the same role they previously had in their child’s health. Parents were worried they will be labeled as “difficult” by the adult health care providers.

Pediatric health care providers may see adult health care providers as being uncaring and less supportive of the YSHCN. 40% of adult health care providers also feel uncomfortable taking care of YSHCN.

Adult health care providers may see pediatric providers as being overprotective and unwilling to relinquish care. One paper noted: “Paediatric health care providers sometimes ignore the growing independence of adolescents. In contrast, adult care providers encourage adolescent patients to take responsibility for their health even through this may lead to neglect of physical, psychological and social development. As a result [YSHCN] can feel lost in adult care services leading to lower rates of follow-up appointments, attendance and medical compliance.”

Learning Point

Major barriers to a successful transition to an adult health care provider for YSHCN includes:

  • No planned or inadequate transition process
  • Insufficient preparation of process or timing
  • Lack of accessibility to adult health care services
  • Negative attitudes of health care providers to the transition process
  • Negative attitudes of patients to the transition process

Major facilitators to a successful transition include

  • A structured, systematic transition process including
    • Understanding the patient and their personal and health care goals
    • Understanding the families’ goals for their son/daughter
    • Assessment of patient self-management skills (see personal responsibility below)
    • Identify key pediatric health care provider to guide the process
    • Referral to specific adult health care provider(s)
    • Going to/making an appointment with the adult health care provider before transitioning
    • Prepare structured summaries of past medical history and future plan of care
    • Identify legal issues including assent/consent, health care proxies, advanced directives, guardianship, HIPAA, FERPA, DNR orders, etc.
    • Plan health care insurance coverage
    • Prepare contact list and preferred communication methods for all adult health care providers
    • Prepare contact list for community services
    • Prepare emergency plan
  • Gradual preparation for transition
    • Begin early in adolescence or at time of diagnosis to starting transition discussions
    • Discuss at timed visits or each visit
    • Consider legal needs and allow enough time to prepare legal documents
    • Plan health care insurance coverage
  • Complex health care conditions
    • Availability of high quality adult health care providers who are knowledgeable about the specific diagnoses
    • Specific health care needs and services addressed comprehensively – including community services
    • Set up communication plan with patient, family, pediatric health care provider and adult health care provider during the transition process
  • Parental support
    • Parents acting as a facilitator or guide aids transition
    • Too much oversight can hinder patient independence and self-efficacy
  • Patients taking personal responsibility for their own care
    • Understanding the patient and their personal and health care goals
    • Consider work or education
    • Consider financial constraints
    • Consider cognitive ability, maturity, personal responsibility experience for medical management
      There are some questionnaires/tools that can help with discussions about medical management independence (e.g. Transition Readiness Assessment Questionnaire)

Questions for Further Discussion
1. What are some community resources that should be considered in transitioning YSHCN to adult services?
2. What government resources should be considered?
3. What is the role of social work in transitioning YSHCN?

Related Cases

    Disease: Transitioning to Adult Health Services | Teen Health

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: Teen 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.

Oswald DP, Gilles DL, Cannady MS. Wenzel DB, Willis JH, Bodurtha JN. Youth with Special Health Care Needs: Transition to Adult Health Care Services. Matern Child Health J. 2013 Dec; 17(10): 1744-1752.

Zhou H, Roberts P, Dhaliwal S, Della P. Transitioning adolescent and young adults with chronic disease and/or disabilities from paediatric to adult care services – an integrative review. J Clin Nurs. 2016 Nov;25(21-22):3113-3130.

Feinstein R, Rabey C, Pilapil M. Evidence Supporting the Effectiveness of Transition Programs for Youth With Special Health Care Needs. Curr Probl Pediatr Adolesc Health Care. 2017 Aug;47(8):208-21.

Davidson LF, Doyle M, Silver EJ. Discussing Future Goals and Legal Aspects of Health Care: Essential Steps in TransitioningYouth to Adult-Oriented Care. Clin Pediatr (Phila). 2017 Sep;56(10):902-908.

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

Is This Sarcoidosis?

Patient Presentation
A 13-year-old African American female came to clinic with a few days history of being more tired and sore upper arms. The arms were worse with carrying her backpack, picking up something or if extended over her head. She denied any fevers, chills, weight loss, skin changes, joint pain, myalgias, nausea, emesis, coughs, urinary or bowel changes or eye changes. She denied any recent illnesses or travel. She had a pet dog that had been well. She had a past medical history of dry skin. She had started playing basketball about one week ago for her school team and had started a new volleyball unit in her gym class around the same time. She also was staying up later to finish her homework because of her new basketball schedule. The family history was contributory for a maternal aunt with arthritis and her mother had been diagnosed with sarcoidosis about 6 weeks previously.

The pertinent physical exam showed a healthy female with normal vital signs, weight at the 50% and height at the 90% and trending normally. HEENT was negative. Her skin examination was negative except for a few closed comedomal acne lesions on her cheeks, and some dry skin on her lower extremities, along with some small bruises on her shins and forearms. The bruises were uniform and had no target areas. Her lung, cardiac, abdominal and neurological examinations were normal. A careful examination of her joints found no erythema or edema and all had full range of motion. She was slightly tender with palpation of the muscles. Raising her arms above her head reproduced the mild pain.

The diagnosis of a healthy female with overuse of her muscles and fatigue due to exercise and decreased sleep was made. The pediatrician discussed the diagnosis with the family and offered symptomatic treatment. “I just wanted to make sure she was okay. I didn’t really pay attention to some of my symptoms and I wanted to make sure she was fine,” the mother stated. “I agree with you that it is always better to look into something than not, but as you are learning, sarcoidosis is rare and it is even less common in children and teens, but it does occur,” he replied to the mother. “Because your mother has sarcoidosis, you will need to be aware of symptoms especially in your lungs, skin, eyes and possibly other places throughout your lifetime. If you aren’t sure about it, talk with your doctor and remind them that your mother had sarcoid. I’m not trying to scare you but your mother is right that if something doesn’t seem right then you probably should get it checked out,” he counseled the teen.

Discussion
Sarcoidosis is rare and is even rarer in the pediatric age group. Sarcoidosis is seen in all ages with an estimated prevalence is 10-40/100,000 in the U.S. population. Pediatric sarcoidosis has an estimated incidence of 0.2/100,000 per year. For the pediatric age range it is more likely from 9-15 years of age. In adults it commonly presents between 20-39 years but bimodal distribution is also reported. Women are more likely to have sarcoidosis than men. African American females have the highest risk, and usually present slightly older, especially in the 4th decade of life. African American women are also more likely to have more significant disease.

The etiology is unknown but felt to be multifactorial with environmental exposures (e.g. non-organic particulates, metals, mold, insecticides) and infectious disease exposures (e.g. Mycobacterium, Hepatitis C) and genetics being implicated. Various HLA alleles, along with various chromosomal abnormalities (3p, 5p, 5q and 6p) have been implicated.

For adolescents their clinical course most closely follows adult forms of the disease process which usually has pulmonary disease, lymphadenopathy and constitutional symptoms such as fatigue, night sweats and weight loss. Treatment is with corticosteroid and other anti-inflammatory agents. For adults, most patients have remission with few or no consequences (overall 6 months, and late-stage pulmonary involvement.

Learning Point
The main hallmark of sarcoidosis is non-caseating epithelioid granulomas. These can be found almost anywhere in the body (e.g. muscle, liver, spleen, lymph nodes, kidney, central nervous system, etc.), but skin and pulmonary granulomas are more common. Skin changes include papules, plaques, and nodules with a yellow, brown, or red hue color are seen. They are more common on the face. Pulmonary lymphadenopathy if present is usually symmetrical and hilar but can be generalized. Hypercalcemia is also seen with sarcoidosis and can be its presentation. A differential diagnosis of hypercalcemia can be found here.

Early onset saroidosis (EOS) is believed to be caused by a NOD2/CARD15 mutation which plays a role in immune function. It is sporadic with onset in infancy with a symmetric, polyarticular, granulomatous arthritis along with scaly rash and uveitis. In a case series of 30 cases of EOS, the mean presentation age was 17.9 ± 15.8 months. All presented with a skin rash (29/30 with 1 case missing information), 96.2% had non-caseating granulomas (25/26 with 4 cases missing information) and 93.8% had fever (15/16 with 14 having missing information). “[S]kin rash with non-caseating granulomas was a key feature for early diagnosis.”

Blau syndrome is a distinct, autosomal-dominant form of the disease that presents with a characteristic triad of granulomatous dermatitis, uveitis and polyarticular synovitis and tenosynovitis. Basically EOS and Blau syndrome have the same clinical presentations but different genetic patterns.

Questions for Further Discussion
1. What is the differential diagnosis of sarcoidosis?
2. What are indications to see an immunologist or rheumatologist?

Related Cases

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.
And if the search term is one word it does not need to be in quotes

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

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.

Iannuzzi MC, Rybicki BA, Teirstein AS. Sarcoidosis. N Engl J Med. 2007 Nov 22;357(21):2153-65.

Orandi AB, Eutsler E, Ferguson C, White AJ, Kitcharoensakkul M. Sarcoidosis presenting as granulomatous myositis in a 16-year-old adolescent.
Pediatr Rheumatol Online J. 2016 Nov 10;14(1):59.

Sherief LM, Amer OT, Mokhtar WA, Kamal NM, Ibrahim HM. Pediatric sarcoidosis presenting as huge splenomegaly.
Pediatr Int. 2017 Mar;59(3):366-367.

Takeuchi Y, Shigemura T, Kobayashi N, Kaneko N, Iwasaki T, Minami K, Kobayashi K, Masumoto J, Agematsu K. Early diagnosis of early-onset sarcoidosis: a case report with functional analysis and review of the literature.
Clin Rheumatol. 2017 May;36(5):1189-1196.

Lakdawala N, Ferenczi K, Grant-Kels JM. Granulomatous diseases: Kids are not just little people. Clin Dermatol. 2017 Nov – Dec;35(6):555-565.

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

What Clinical Symptoms Can An Infant with Polycythemia Have?

Patient Presentation
A 36 0/7 gestational age female was born to a G2P1 female with a history of preterm delivery. The mother was known to be Group B Streptococcus positive but was inadequately treated with intrapartum antibiotics because of late presentation for delivery. The infant had Apgar scores of 7 and 8, and was slightly dusky at delivery with some mild tachypnea.

The pertinent physical exam showed a small infant with growth parameters 1820 grams (<3% on Fenton Growth Chart), 30 cm head circumference (3-10%) and length of 43 cm (10%), with a Ballard score consistent with 36 week gestation. Respiratory rate was in the 40s/minute with a normal blood pressure, temperature and heart rate. Her examination showed no physical abnormalities including no murmur, or color changes

The diagnosis of of a small for gestational age, preterm infant was made. She was intermittently tachypneic so screening laboratory testing was done and antibiotics were started. The laboratory evaluation showed the capillary complete blood count with a hematocrit of 71%, hemoglobin of 22.3 gm/dL, white blood cell count of 14.6 x 1000/mm2, left shift of 9% and a platelet count of 287 x 1000/mm2. Her C-reactive protein was 0.6 mg/dl, with a glucose of 48 mg/dL. Over the next couple of hours her tachypnea resolved, she had one glucose that was 43 mg/dL which resolved with oral feeding, and her repeated venous complete blood count had a hematocrit of 62% and hemoglobin of 21.4 gm/dL.

Over the next 24 hours, she continued to do well with no tachypnea and normal glucose levels, however she was very slow feeding and breast milk supplementation was continued after every feeding as she also had a 3% weight loss. Her repeated screening laboratories were normal with no increase in her white blood cell count, left shift or C-reactive protein elevation. Her hematocrit stabilized at 61% and a hemoglobin of 21.2 gm/dL. Blood cultures were negative after 48 hours and the antibiotics were discontinued. She had poor oral intake that required supplementation as she had a maximum weight loss of 8%. After 6 days she was able to stabilize her weight and be discharged with close followup. The patient’s clinical course at 42 weeks corrected gestational age, revealed her weight at 2847 grams which was still below the 3rd percentile but was increasing.

Discussion
Polycythemia is defined as a venous hematocrit of > 65% or a venous hemoglobin of > 22 g/dL. Capillary values are unreliable and any values greater than normal should be repeated with a venous sampling for confirmation. Hyperviscosity is distinct from polycythemia and “… is defined as a viscosity greater than 14.6 cP at a shear rate of 11.5 per second, or a value 2 standard deviations above the mean.” Hyperviscosity is difficult to measure in the clinical setting therefore polycythemia is often used as a proxy.

Polycythemia occurs in about ~1.5-5% of births. Risk factors for it includes infants that are small for gestation age (SGA, A review is here) and large for gestation age (LGA, A review is here ), infants of diabetic mothers (IDM, a review is here), monochorionic twins (larger twin is more at risk, A review is here), and infants with growth retardation features. Infants born at high altitudes can have polycythemia (a review is here). Polycythemia is less likely in infants < 34 weeks gestation. Other potential risks for polycythemia include acute and chronic hypoxia (e.g. placental insufficiency, preeclampsia, maternal smoking, neonatal thyrotoxicosis), intrauterine transfusion (e.g. materno-fetal, feto-feto) and genetic syndromes such as trisomy 13, 18 and 21 and Beckwith-Weidemann syndrome.

After birth, fluid moves out of the intravascular space and causes the hematocrit to peak at ~ 2 hours of age and decreases around 6 hours of life, with stabilization around 12-24 hours. Factors that influence hematocrit include altitude, postnatal age, fetal hypoxia, intrauterine growth, timing of cord clamping, relative infant and placental height at cord clamping time, and sampling site. Factors that affect viscosity include blood vessel size, hematocrit, deformity of red blood cells, white blood cell concentration, and blood pH.

After confirmation of the polycythemia by venous sampling, dehydration as a cause must be excluded and/or treated. Additionally hypoglycemia and/or other metabolic problems should also be evaluated. Patients who are symptomatic because of polycythemia are treated with partial exchange transfusion where part of the blood volume is replaced with fluids to decrease the hematocrit to try to achieve a lower hematocrit. Treatment of asymptomatic patients is more controversial. For patients with a high hematocrit (~>75%) partial exchange transfusion is usually used. For those that have a hematocrit 70-75% hydration may or may not be used. For those with a hematocrit 65-70% they are usually actively monitored, while some clinicians may also give additional fluid. In 2016, a small (N=55) but prospective study of infants 34 weeks or more gestation, with asymptomatic polycythemia with hematocrit 65-75% found normal saline supplementation did not reduce the need for partial exchange transfusion.

In 2017 a systematic review of delayed vs early umbilical cord clamping for preterm infants found that delayed cord clamping reduced hospital mortality and had “…no major differences in major neonatal morbidities…” such as intraventricular hemorrhage, mechanical ventilation, sepsis, and necrotizing enterocolitis. It also reduced the need for later blood transfusions. Delayed cord clamping also increased the peak hematocrit and the polycythemia incidence. It did not have any impact on use of partial exchange transfusion.

Learning Point

Clinical symptoms associated with polycythemia include:

  • Cardiac
    • Cyanosis
    • Plethora
    • Cardiomegaly
    • Echocardiographic changes – decreased cardiac output, increased pulmonary resistance
    • Vascular problems – priapism, testicular infarction
  • Gastrointestinal
    • Poor suck
    • Abdominal distention
    • Necrotizing enterocolitis
  • Hematologic
    • Abnormal blood smear
    • Thrombocytopenia
    • Thrombosis
  • Metabolic
    • Hyperbilirubinemia
    • Hypocalcemia
    • Hypoglycemia
  • Neurological
    • Early
      • Jitteriness
      • Lethargy/poor feeding
      • EEG abnormalities
      • Hypotonia
      • Seizures
    • Late
      • Lower intelligence quotient scores
      • Motor deficits
  • Renal
    • Oliguria
    • Hypertension, transient
    • Renal vein thrombosis
  • Respiratory
    • Respiratory distress

Questions for Further Discussion
1. What are indications for an exchange transfusion?
2. What are potential risks of partial exchange or exchange transfusion?
3. What are causes of anemia in different age groups?

Related Cases

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: Blood Disorders

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.

Rosenkrantz TS. Polycythemia and hyperviscosity in the newborn. Semin Thromb Hemost. 2003 Oct;29(5):515-27.

Sankar MJ, Agarwal R, Deorari A, Paul VK. Management of polycythemia in neonates. Indian J Pediatr. 2010 Oct;77(10):1117-21.

Sundaram M, Dutta S, Narang A. Fluid Supplementation versus No Fluid Supplementation in Late Preterm and Term Neonates with Asymptomatic Polycythemia: A Randomized Controlled Trial. Indian Pediatr. 2016 Nov 15;53(11):983-986.

Fogarty M, Osborn DA, Askie L, Seidler AL, Hunter K, Lui K, Simes J, Tarnow-Mordi W. Delayed vs early umbilical cord clamping for preterm infants: a systematic review and meta-analysis. Am J Obstet Gynecol. 2018 Jan;218(1):1-18.

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