Congenital varicella syndrome

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Congenital varicella syndrome is a rare disease resulting from Varicella Zoster virus (VZV) infection during the period of gestation. Viremia during the primary infection can result in transplacental transmission of the infection to the developing fetus. An estimated 25% of fetuses get infected with varicella infection when mother has a varicella infection during the pregnancy but the risk of developing congenital varicella syndrome is around 2%, therefore majority of the outcomes are normal newborns. Patients with primary infection before 20 weeks of gestation are at a higher risk of developing the severe form of infection, affecting the eyes, limbs, skin and the central nervous system. Diagnosis requires a documented history of primary infection in the mother and serial ultrasound demonstrating features suggestive of congenital varicella syndrome. There is no definitive treatment, termination of pregnancy in fetuses with severe features is recommended. Vaccination to prevent maternal varicella infection and proper counseling to avoid contact with infected people are important for the management options to reduce the incidence of congenital varicella syndrome. [1]

Contents

Historical perspective

Classification

There is no classification for congenital varicella syndrome.

Pathophysiology

Pathogenesis

Epidemiology and demographics

Congenital varicella syndrome is a rare disease with over 100 cases reported in literature. [12]

Causes

Congenital varicella syndrome is caused by Varicella zoster virus (VZV), a human alpha herpes virus.

Differentiating congenital varicella syndrome from other diseases

The most important congenital infections, which can be transmitted vertically from mother to fetus are the TORCH infections. These infections have overlapping features and hence, must be differentiated from congenital varicella syndrome: [13] [14]

Congenital InfectionCardiac FindingsSkin FindingsOcular FindingsHepatosplenomegaly Hydrocephalus Microcephaly Intracranial calcifications Hearing deficits
Congenital Varicella syndrome-
  • Cicatrical Skin Lesions
  • Skin edema
✔✔✔
Toxoplasmosis ✔✔✔Diffuse intracranial calcifications
Congenital Syphilis ✔
Rubella ✔✔✔✔
Cytomegalovirus (CMV)✔✔✔Periventricular calcifications✔
Herpes simplex virus ✔✔✔✔
Parvovirus B19 ✔

Natural history, prognosis and complications

Natural history

VZV infection during pregnancy results in a normal newborn birth in majority of the patients, however, in a few patients it can result in congenital varicella syndrome or neonatal varicella or clinical zoster during infancy, the outcomes are dependent on the gestational age of fetus at the time of infection. Early gestational period infection via the transplacental route can result in congenital varicella syndrome resulting in a miscarriage, abortion or a newborn with features affecting the limbs, eyes, central nervous system, autonomic nervous system and present with features such as low birth weight, cutaneous scarring, limb hypoplasia, microcephaly, cortical atrophy, chorioretinitis and cataracts. [15] [16]

Prognosis

Severe infection of the fetus can result in an abortion. Infants born with signs of congenital varicella syndrome have poor prognosis and die during the first few months of life. [17] [15] Infants with milder symptoms can have a normal development and good prognosis. [18] [19]

Complications

Congenital varicella infection can result in the following complications: [20]

Diagnosis

History and symptoms

Symptoms of primary infection in mother :

Symptoms in the neonate

Physical examination

Physical examination findings suggestive of congenital varicella syndrome include: [25] [26]

Physical examination findings in congenital varicella syndrome
Skin
  • Cicatricial lesions( Zig-Zag scarring in dermatomal distribution) [27]
  • Hypopigmentation
Eye
Central Nervous System
Musculoskeletal system
  • Limb hypoplasia
  • Muscle hypoplasia
Systemic Manifestations

Table adopted from varicella in fetus and newborn [31]

Laboratory findings

The diagnosis of congenital varicella syndrome is based on a documented history of varicella infection during the pregnancy and the presence of fetal manifestations on ultrasound. [32]

Key findings for diagnosis of congenital varicella syndrome
History
Fetus / Neonatal Findings
  • Presence of characteristic cicatrical skin lesions, eye lesions, neurological deficits, limb abnormalities
Proof of Intrauterine Varicella infection

Table adopted from Herpes simplex and varicella-zoster virus infections during pregnancy: current concepts of prevention, diagnosis and therapy. Part 2: Varicella-zoster virus infections [33]

Diagnosis of primary infection in the mother : In pregnant women diagnosis of a primary infection requires a combination of clinical manifestations and series of diagnostic tests. The tests are performed on the samples from the vesicular skin lesions and include the following:

Prenatal diagnosis

Imaging studies

Ultrasound

MRI

Prenatal MRI is a useful investigation to assess the extent of CNS involvement and to confirm the findings of ultrasound. [40]

Postnatal diagnosis

Treatment

Medical therapy

Surgical therapy

There are no surgical therapies for treatment of congenital varicella syndrome.

Prevention

Primary prevention

Secondary prevention

Related Research Articles

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References

Creative Commons by-sa small.svg  This article incorporates textby Mahshid Mir, Usama Talib, Aravind Reddy Kuchkuntla, Aditya Ganti, Michael Maddaleni and Kalsang Dolma available under the CC BY-SA 3.0 license.

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