Newborn with Localized Edema of a Finger
A 1-day-old term African American female was found to have localized edema of her right middle finger during her newborn examination. The remainder of the initial physical exam was remarkable only for low set, posteriorly rotated ears. The infant’s eyes, midface, palate, mouth, and neck were normally formed. Cardiac and lung exams were unremarkable. She had no hepatosplenomegaly or rashes.
A genitourinary exam revealed Tanner I female genitalia. Closer examination of the extremities demonstrated significant nonpitting edema from the base of the right middle finger—up to but sparing the distal phalanx—and subtle dorsal edema of the feet bilaterally. The area of edema appeared nonerythematous and nontender. All 4 extremities had strong pulses and brisk capillary refill.
The infant was born weighing 2900 g via spontaneous vaginal delivery at 38 6/7 weeks’ gestation. The prenatal course was remarkable for an ultrasound that noted a cystic hygroma. The mother’s blood type was O negative and her serologies were negative.
Immediately following delivery, the infant was noted to have poor tone and developed respiratory distress. She required continuous positive airway pressure (CPAP) and was admitted to the level II nursery for respiratory distress. A sepsis evaluation was completed. The remainder of the nursery course was unremarkable, with the infant feeding well and making appropriate voids and stools. The infant was able to pass the pulse oximetry screen and newborn hearing screen prior to discharge home on day 6 of life.
A prenatal ultrasound demonstrating a cystic hygroma along with lymphedema of the extremities in a female newborn should raise suspicion for Turner syndrome. Karyotype analysis of the blood confirmed the diagnosis (Monosomy X).
Turner syndrome is one of the most common disorders caused by a chromosomal abnormality, affecting up to 1/2500 live-born females.1 Patients with Turner syndrome can have various karyotypes, including (45,X), (45,X/46,XX) mosaicism, or partial deletions of the X chromosome, which can all manifest clinically as a broad range of phenotypes with multisystemic involvement.
Milroy’s disease, also known as primary congenital lymphedema, is a rare inherited disorder of abnormal lymphatic drainage that also commonly manifests as swelling of the lower extremities. However, unlike Turner syndrome, Milroy’s disease is not associated with renal, cardiac, or other systemic manifestations and is inherited in an autosomal dominant pattern.2
A classic presentation of Turner syndrome is a teenage female who is evaluated for amenorrhea and short stature. Other well-known clinical manifestations include webbed neck, short fourth metacarpals, low posterior hairline, high-arched palate, small mandible, low-set ears, cubitus valgus deformity, and lymphedema of the hands and feet.
Lymphedema in Turner syndrome results from poor development of the lymphatic system with resulting accumulation of fluid and protein in the interstitial spaces. This can manifest as swelling of the extremities, head, neck, and—less commonly—of the genitalia, gut, pericardium, or lungs. Lymphedema of the hands and feet is a finding in up to 60% of patients with Turner syndrome, and its presence in a newborn female should prompt further genetic evaluation. However, lymphedema localized to a specific part of a limb has been less commonly reported in patients with Turner syndrome. Lymphedema of the extremities commonly self resolves by age 2 but can reoccur at a later age.3
The definitive diagnosis of Turner syndrome is through chromosomal analysis demonstrating partial or complete absence of the X chromosome. It can be diagnosed in the prenatal period with amniocentesis or chorionic villus sampling.
In the newborn period, obtaining an echocardiogram is recommended to evaluate for left-sided heart lesions associated with Turner syndrome, particularly aortic valvular disease and aortic coarctation.1,4 An echocardiogram in this patient demonstrated a small PDA, trivial atrioventricular insufficiency, and a patent foramen ovale. The infant was referred to the cardiology department for further follow-up.
Renal anomalies in Turner syndrome can include horseshoe kidneys. In our patient, a renal ultrasound done shortly after birth was normal. Endocrine abnormalities in Turner syndrome can involve thyroid, growth hormone, and ovarian dysfunction, the latter often requiring hormone replacement therapy to induce puberty.1,4
Evaluation by an ophthalmologist is recommended by 12 to 18 months of age to assess for strabismus or hyperopia.2,3 Additionally, due to an increased incidence of sensorineural hearing loss, individuals with Turner syndrome should have an annual audiology evaluations and close surveillance for otitis media, with a low threshold for referral to otolaryngology.1,4
Clinical practice guidelines published by the American Academy of Pediatrics and Turner Syndrome Study Group are available for pediatricians to ensure comprehensive care of patients with this condition as they grow into adulthood.
- Milbrandt T, Thomas E. Turner syndrome. Pediatr Rev. 2013;34(9):420-421.
- Singh P, Connell M. Primary congenital lymphedema complicated by hydrops fetalis: a case report and review of the literature. Case Rep Obstet Gynecol. 2013;2013:186173.
- Atton G, Gordon K, Brice G, et al. The lymphatic phenotype Turner syndrome: an evaluation of nineteen patients and literature review. Eur J Hum Genet. 2015;23(12):1634-1639.
- Loscalzo M. Turner Syndrome. Pediatr Rev. 2008;29(7):219-227.