|Year : 2016 | Volume
| Issue : 3 | Page : 229-231
Gregg syndrome: With blueberry muffin rash and congenital cataract
Shyamkumar Makadia, Hiral Shah, Bharti Patel, Neela Bhuptani
Department of DVL (Skin), P.D.U. Government Medical College and Hospital, Rajkot, Gujarat, India
|Date of Web Publication||5-Jul-2016|
Department of DVL (Skin), OPD No.: 30, 2nd Floor, New OPD Building, P.D.U. Government Medical College and Hospital, Rajkot, Gujarat
Source of Support: None, Conflict of Interest: None
Rubella, though a mild, vaccine-preventable disease, can manifest with severe teratogenic effects in the fetus due to primary maternal rubella infection. A case of a full-term neonate with blueberry muffin lesions and classical as well as rare systemic features of Gregg syndrome is reported.
Keywords: Blueberry muffin rash, cataract, congenital rubella syndrome, Gregg syndrome
|How to cite this article:|
Makadia S, Shah H, Patel B, Bhuptani N. Gregg syndrome: With blueberry muffin rash and congenital cataract. Indian J Paediatr Dermatol 2016;17:229-31
|How to cite this URL:|
Makadia S, Shah H, Patel B, Bhuptani N. Gregg syndrome: With blueberry muffin rash and congenital cataract. Indian J Paediatr Dermatol [serial online] 2016 [cited 2019 Oct 16];17:229-31. Available from: http://www.ijpd.in/text.asp?2016/17/3/229/179496
| Introduction|| |
The term Gregg syndrome was first coined in 1941 by Australian ophthalmologist Norman McAlister Gregg. It is classically also known as congenital rubella syndrome (CRS). It is a consequence of rubella infection that can occur when the virus is transmitted in-utero during maternal primary infection.
Infection occurring in the first 12 weeks of pregnancy causes congenital rubella infection in 90%, with almost a 100% risk of congenital defects. From 13 to 17 weeks the risk of infection is about 60%, and risk of defects about 50%. From 18 to 24 weeks the risk of infection is about 25%, with hardly any risk of congenital defects. When infection occurs in the first 11 weeks of pregnancy, babies present with the heart defects and deafness; between 13 and 16 weeks with only deafness. When infection occurs after 16 weeks, newborns do not have any congenital defect. Hence, fetal congenital defects are common when infection occurs in the first 16 weeks of pregnancy.
CRS classically presents with Gregg triad consisting of cataract, deafness, and heart defects. Cataract and microphthalmia occur in 1/3 of cases. Sensory or central deafness is the most common sequel (80% of infected children) and is the only event that can present singly as isolated congenital rubella.
| Case Report|| |
The dermatological opinion was sought by neonatal care unit for a full-term low birth weight female neonate with a generalized violaceous rash. The baby was born at full-term gestation by normal vaginal delivery out of nonconsanguineous marriage in a second gravida Muslim mother of 24 years age. There was meconium aspiration resulting in respiratory distress at the time of delivery, and the baby did not cry at birth. The mother's antenatal abdominal ultrasonography (USG) was suggestive of fetal borderline cardiomegaly and intrauterine growth restriction. Mother was not immunized with measles, mumps, and rubella (MMR) vaccine and serology for rubella was not done during the antenatal period. Mother gave no history of fever, rash, arthralgia, lymphadenopathy, and bleeding diathesis during the antenatal period. The baby was second in the birth order, and elder sibling was a 3.5-year-old healthy female child, born out of an uncomplicated pregnancy.
On examination, the neonate was afebrile, tachypnoeic (respiratory rate - 66/min) but acyanotic and had microcephaly (head circumference - 29 cm, less than third centile), low birth weight - 2.2 kg (ideal for age - 2.5 kg) and bilateral pitting type periorbital edema.
Cutaneous examination revealed multiple, discrete, 0.5 cm × 0.5 cm to 1 cm × 1 cm sized violaceus nonblanchable macules and few papules distributed predominantly over face, trunk, both extremities including palms, soles [Figure 1] and [Figure 2], and sparing the mucous membranes.
|Figure 1: Multiple violaceus, nonblanchable, macules, and few papules over face|
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|Figure 2: Multiple violaceus, nonblanchable, macules, and few papules over trunk and upper limbs|
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Systemic examination revealed cardiomegaly and respiratory distress with grunting. Ophthalmologic examination revealed congenital cataract in the left eye [Figure 3] and early immature cataract in the right eye.
Toxoplasmosis, rubella, cytomegalovirus, and herpes simplex screening in neonate showed – positive for rubella IgG – 350 IU/ml, IgM – 400 coi and positive for herpes simplex virus 1 and 2 IgG – 20.8 coi and in mother done postnatally revealed positive IgG for rubella, cytomegalovirus, and toxoplasma virus. The complete hemogram revealed hemoglobin – 13.8 g/dl, leukocytosis – 12,800 cells/cumm, differential count – neutropenia (38%), lymphocytosis (60%), eosinophil (1%), monocyte (1%); thrombocytopenia – 30,000 cells/cumm, raised prothrombin (test: 24.7 s, control: 14 s), and activated partial thromboplastin time (test: 37.9 s, control: 28.3 s). The C-reactive protein was positive (1.2 ng/ml).
The echocardiography, anterior fontonelle USG, ophthalmologist's follow-up, and oto-rhino-laryngologist's opinion were planned but unfortunately, the patient died of cardiorespiratory arrest prior to the further evaluation.
A diagnosis of CRS (Gregg syndrome) with blueberry muffin rash and congenital cataract was made. The neonate received supportive management as per neonatal care unit protocol.
| Discussion|| |
Rubella virus, a togaviridae, is a member of the genus rubivirus. It is an RNA virus with an icosahedral capsid. The virus spreads by droplet infection. The primary infection is usually mild or subclinical characterized by a brief prodromal phase. The erythematous maculopapular rash is seen in the postauricular area as well as over the body, accompanied by coryza and conjunctivitis, and arthralgia. It is a self-limiting episode.
However, the maternal infection can transfer the infection transplacentally and cause congenital defects in the fetus. During the period of maternal viremia, the placenta may become infected causing necrosis and desquamation of the epithelium of the chorionic villi and the endothelium.
In this era of widespread vaccination, rubella still accounts for a high number of intrauterine infections in the developing countries. The spectrum of CRS includes ocular abnormalities (cataracts, retinopathy, microphthalmos, and glaucoma), sensorineural deafness, neurological defects (microcephaly, motor defects, mental retardation, and subependymal cysts), cardiovascular abnormalities (patent ductus arteriosus, ventricular septal defect, and aortic stenosis), genitourinary, and bone defects.
Blueberry muffin rash is a rare neonatal skin disorder characterized by widespread nonblanchable, maculopapular lesions of reddish-blue or magenta color, due to persistent dermal erythropoiesis in patients with congenital viral infections. Although the exact cause of prolonged dermal erythropoiesis is unknown, during normal embryologic development.
Extramedullary hematopoiesis occurs in a number of organs, including the dermis; this activity persists until the 5th month of gestation. The presence of blueberry muffin lesions at birth represents the postnatal expression of this normal fetal extramedullary hematopoiesis. Conditions that cause extramedullary hematopoiesis include intrauterine infections, congenital spherocytosis, rhesus hemolytic disease, ABO blood group incompatibility, anemia caused by twin-twin transfusion, neonatal neuroblastoma, etc.
In our case, clinical examination and positive rubella serology pointed to the diagnosis.
| Conclusion|| |
The clinical presentation and investigations of this neonate were suggestive of Gregg syndrome (CRS) with blueberry muffin rash and congenital cataract, which is a very rare condition with an annual incidence of 0.42–4.3/1000 live births in developing countries, and hence, the case has been reported. So, it can be concluded that vaccination of mother with MMR as per routine immunization program could have prevented such grave prognosis and outcome on the part of the mother and her baby.
Declaration of Patient Consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial Support and Sponsorship
Conflicts of Interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]