Marquez L, Levy ML, Munoz FM, Palazzi DL. A report of three cases and review of intrauterine herpes simplex virus infection. Pediatr Infect Dis J. 2011;30(2):153–157.
Syphilis
Syphilis is caused by the spirochete Treponema pallidum, and sexual contact is the usual route of transmission. Fetal infection occurs following maternal spirochetemia. The longer the mother has had syphilis, the lower is the risk of transmitting the disease to her child. If a mother has contracted primary or secondary disease, approximately half of her offspring will be infected. In cases of untreated late maternal syphilis, approximately 70% of infants are healthy. The incidence of congenital syphilis in the United States is 8.5 cases per 100,000 live births.
Signs and symptoms of congenital syphilis include unexplained premature birth, large placenta, persistent rhinitis, intractable rash, unexplained jaundice, hepatosplenomegaly, pneumonia, anemia, generalized lymphadenopathy, and metaphyseal abnormalities or periostitis on radiographs. Congenitally acquired infection can lead to neonatal death. Early eye involvement in congenital syphilis is rare.
In some infants, chorioretinitis appears as a salt-and-pepper granularity of the fundus. Pseudoretinitis pigmentosa may follow. In rare cases, anterior uveitis, glaucoma, or both may develop. In other cases, symptoms may not appear until late childhood or adolescence. Widely spaced, peg-shaped teeth; eighth nerve deafness; and interstitial keratitis constitute the Hutchinson triad. Other manifestations include saddle nose, short maxilla, and linear scars around body orifices. Bilateral interstitial keratitis, the classic ophthalmic finding in older children and adults, occurs in approximately 10% of patients.
A diagnosis of congenital syphilis is confirmed by identification of T pallidum by dark-field microscopy or fluorescent antibody. The detection of specific IgM is currently the most sensitive serological method.
Congenital syphilis in neonates is treated with intravenous aqueous crystalline penicillin G. Serologic tests are repeated at 2 to 4, 6, and 12 months after the conclusion of treatment, or until results become nonreactive or the titer has decreased fourfold. Persistent positive titers or a positive cerebrospinal fluid VDRL test result at 6 months should prompt retreatment.
Centers for Disease Control and Prevention. Sexually transmitted diseases surveillance, 2011: syphilis. Available from www.c dc.gov/std/stats11/tables/1.htm. Accessed February 19, 2014.
Lymphocytic Choriomeningitis
Lymphocytic choriomeningitis virus (LCMV) is an arenavirus that is transmitted by exposure to infected rodents (including house and lab mice and pet hamsters). Infants with congenital LCMV infection present with CNS abnormalities, including hydrocephaly, microcephaly, intracranial calcifications, and cognitive impairment. Chorioretinal scars, which may involve the entire macula, may occur without neurologic abnormalities. The appearance of these scars is similar to that of scars seen in patients with toxoplasmosis, CMV, and Aicardi syndrome. The diagnosis of LCMV infection should be considered in infants with chorioretinal scars when results of tests for these more common etiologies are negative. Elevated LCMV antibody titers establish the diagnosis. No specific treatment is available apart from exposure prevention.
Malignant Disease
Leukemia
Leukemia in childhood is acute in 95% of cases and is more often lymphocytic than myelocytic. Acute lymphoblastic leukemia is the most common malignant disease of childhood and is responsible for 30% of all cancer cases; there are 4000 new cases per year in the United States. Although the most common ocular manifestation of leukemia is leukemic retinopathy, all ocular structures can be affected. Ocular involvement is highly correlated with CNS involvement.
Leukemic infiltrates in the anterior segment may lead to heterochromia iridis, a change in the architecture of the iris, frank iris infiltrates, spontaneous hyphemas, leukemic cells in the anterior chamber, and pseudohypopyon. Keratic precipitates may be seen, and some affected eyes develop glaucoma from tumor cells clogging the trabecular meshwork. Anterior chamber paracentesis for cytologic studies may be diagnostic in cases involving the anterior segment. Systemic chemotherapy, local radiation therapy, and topical steroids may be effective for anterior segment complications. Leukemic involvement of the iris may be confused with juvenile xanthogranuloma.
The most common ocular findings are retinal hemorrhages, especially flame-shaped lesions in the nerve fiber layer. They involve the posterior fundus and correlate with other aspects of the disease, such as anemia, thrombocytopenia, and coagulation abnormalities. The hemorrhages may have white centers. Retinal hemorrhages in leukemia can resemble those associated with abusive head trauma (see Chapter 27), and they have been reported as the first manifestation of leukemia. Other forms of retinal involvement include localized perivascular infiltrations, microinfarction, and discrete tumor infiltrations. Histologically, the choroid is the most frequently affected ocular tissue, but choroidal involvement is usually not apparent clinically.
Optic nerve involvement occurs if the disc has been infiltrated by leukemic cells (Fig 28-19), which may cause loss of central vision. Translucent swelling of the disc obscures the normal landmarks; with florid involvement, only a white mass is visible in the region of the disc. The presence of disc edema and loss of central vision in a child with leukemia should be considered a medical emergency because permanent loss of central vision is imminent. Such patients should undergo radiation therapy as soon as possible.
Figure 28-19 Leukemic infiltration of optic nerve.
Neuroblastoma
Neuroblastoma is one of the most common childhood cancers and is the most frequent source of childhood orbital metastasis (89% of cases). It usually originates in either the adrenal gland or the sympathetic ganglion chain in the retroperitoneum or mediastinum. Approximately 20% of all patients with neuroblastoma show clinical evidence of orbital involvement, which is sometimes the initial manifestation of the tumor.
The mean age at diagnosis of patients with metastatic orbital neuroblastoma is approximately 2 years; 90% are diagnosed by 5 years of age. Unilateral or bilateral proptosis and eyelid ecchymosis are the classic presentations (Fig 28-20). Systemic signs and symptoms may include abdominal fullness and pain, venous obstruction and edema, hypertension caused by renal vascular compromise, and bone pain. Urinalysis for catecholamines is positive in 90%–95% of cases.
Figure 28-20 Bilateral orbital metastasis from neuroblastoma in a 2-year-old girl, presenting with periorbital ecchymosis.
Opsoclonus, characterized by rapid, multidirectional saccadic eye movements, is a paraneoplastic syndrome that is associated with neuroblastoma and is not related to orbital involvement. It is associated with a good prognosis for survival, although neurologic deficits may persist. Horner syndrome can occur from a primary cervical or apical thoracic neuroblastoma that involves the sympathetic chain (Fig 28-21). Horner syndrome does not occur from metastatic neuroblastoma.
Figure 28-21 Right Horner syndrome, the presenting sign of localized intrathoracic neuroblastoma in a 6-month-old boy.
Treatment modalities include surgery, chemotherapy, and radiation therapy. Neuroblastoma that presents in a child younger than 1 year has a more favorable prognosis than that in older children. Approximately 10% of neuroblastomas undergo spontaneous regression.