History of present illness
We present a case of a 2.5-month-old female newborn (gestational age at birth of 39 weeks, weight at birth of 2.580 g, and cephalic perimeter of 27 cm). Microcephaly was detected at birth and classified as severe. Mother did not recall any symptoms such as rash, malaise, fever, and arthralgia during the pregnancy.
Ocular examination findings
Initial ophthalmological examination included biomicroscopy and fundus examination. The anterior segment was unremarkable. Dilated fundus examination showed small and pale optic disc, increased disc cupping (0.6), temporal peripapillary atrophy, and absence of a double-ring sign in both eyes. Well-defined foveal chorioretinal atrophy with pigmented margins and associated macular pigment mottling were detected bilaterally. Bilateral vascular attenuation was also noted.
The follow-up examination at 3 months did not reveal nystagmus or strabismus. No refractive errors were detected except for the presence of hypoaccommodation. Monocular visual acuity using Teller acuity cards performed at 38 cm was 0.86 cy/cm in both eyes, which revealed near-blindness visual impairment. The patient was prescribed +3.00 D spectacles for hypoaccommodation and referred for early low vision intervention.
Imaging
Retinal imaging using a wide-angle digital fundus camera with a 130-degree lens (RetCam digital imaging system, Natus Medical, Pleasanton, CA) was performed for documentation and follow-up.
The comparison of the chorioretinal atrophy at 3 and 21 months of age revealed an increase of the chorioretinal atrophy area from 7.197 mm 2 to 7.851 mm 2 in the right eye and from 4.052 mm 2 to 4.727 mm 2 in the left eye. An increase of the pigmentation around the margin of the chorioretinal atrophy was also noted in both eyes ( Fig. 39.1 ).
Questions to ask
- ■
What is the pregnancy history of the newborn? Did the mother have any symptoms of arboviruses?
- ■
No. The mother did not report complications or symptoms during pregnancy.
- ■
- ■
Was any systemic infection detected during pregnancy? Congenital toxoplasmosis, rubella, cytomegalovirus, varicella-zoster virus, herpes simplex, syphilis, and human immunodeficiency virus (HIV) could cause funduscopic findings associated with microcephaly.
- ■
No. Congenital infectious diseases (TORCHs) were ruled out. When the child was born, cerebrospinal fluid sample testing revealed Zika virus infection. Notably, this infant was born during the Zika virus outbreak in Brazil, and at the time there were no reports on congenital Zika syndrome (CZS).
- ■
- ■
Did the mother use alcohol or any illicit drug during pregnancy that is associated with microcephaly? Is there any family history of consanguinity, microcephaly, or genetic diseases?
- ■
No.
- ■
Assessment
- ■
This is a case of a female newborn with severe microcephaly and who was found on ophthalmological examination to have bilateral optic disc pallor and chorioretinal atrophy associated with pigment mottling in the macula.
Differential diagnosis
- ■
Congenital infectious diseases (toxoplasmosis, rubella, cytomegalovirus, varicella-zoster virus, herpes simplex, syphilis, and HIV)
- ■
Genetic etiologies (Aicardi-Goutières syndrome, pseudo-TORCH syndrome, and mutations in the JAM3 , NDE1 , and ANKLE2 genes)
- ■
Torpedo-like maculopathy
- ■
Illicit drugs or alcohol abuse during pregnancy. Illicit drugs such as cocaine, when taken during pregnancy, may cause optic nerve abnormalities, including optic disc hypoplasia and optic disc atrophy, as well as delayed visual maturation. Alcohol abuse during pregnancy may lead to fetal alcohol syndrome, which is associated with optic nerve hypoplasia and decreased vision.
Working diagnosis
- ■
Congenital Zika syndrome (CZS)
Multimodal testing and results
- ■
Fundus photographs
- ■
A well-defined chorioretinal atrophy and gross macular pigment mottling is visualized but may not be present in all affected newborns.
- ■
- ■
Optical coherence tomography (OCT)
- ■
OCT imaging of the macula can be performed in the affected eyes and shows significant retinal thinning where the scar is located , discontinuation of the ellipsoid zone, hyperreflectivity underlying the retinal pigment epithelium, and choroidal thinning ( Fig. 39.2 ).
- ■
