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Ocular manifestations in JS are highly variable. Disturbances of ocular motility such as OMA are very common and were documented in all children evaluated with comprehensive ophthalmologic testing in one survey.20 OMA typically manifests with dysconjugate eye movements and head thrusting to compensate for the inability to initiate saccades.19 Nystagmus (horizontal, torsional, and/or rotatory) is often present at birth and may improve with age. Strabismus, amblyopia, and ptosis may require medical or surgical intervention. Third nerve palsy has also been observed.19 Retinal disease consisting of a pigmentary retinopathy has been documented in some children with JS,2, 3 and some infants manifest a severe form of congenital blindness with markedly flattened electroretinogram (ERG) traces, analogous to what is termed Leber congenital amaurosis.20, 21 Ocular colobomas are present in some children at birth and usually affect the choroid and retina;2 these are a common feature of the JSRD known as COACH syndrome.8, 22
Abdominal ultrasound scan with attention to the kidneys and liver. As the majority of infants will not manifest renal cystic disease or liver fibrosis at this young age, interval reevaluation is advised.
Recently, mutations in the TMEM67(MKS3) gene at 8q24, found to be causative in Meckel-Gruber syndrome, have been identified in three individuals with JS. While all of the affected individuals manifest cerebellar vermis hypoplasia and/or the MTS, two of them lack the classic features of Meckel-Gruber syndrome (encephalocele, renal cysts, Polydactyly, and hepatic fibrosis).66 Clinical testing for mutations in MKS3 is available.
Introduction. Leptomeningeal carcinomatosis occurs in about 5% of cancer patients. Ocular involvement is a common clinical manifestation and often the presenting clinical feature. Materials and Methods. We report the case of a 52-year old lady with optic neuritis as isolated manifestation of neoplastic meningitis and a review of ocular involvement in neoplastic meningitis. Ocular symptoms were the presenting clinical feature in 34 patients (83%) out of 41 included in our review, the unique manifestation of meningeal carcinomatosis in 3 patients (7%). Visual loss was the presenting clinical manifestation in 17 patients (50%) and was the most common ocular symptom (70%). Other ocular signs were diplopia, ptosis, papilledema, anisocoria, exophthalmos, orbital pain, scotomas, hemianopsia, and nystagmus. Associated clinical symptoms were headache, altered consciousness, meningism, limb weakness, ataxia, dizziness, seizures, and other cranial nerves involvement. All patients except five underwent CSF examination which was normal in 1 patient, pleocytosis was found in 11 patients, increased protein levels were observed in 16 patients, and decreased glucose levels were found in 8 patients. Cytology was positive in 29 patients (76%). Conclusion. Meningeal carcinomatosis should be considered in patients with ocular symptoms even in the absence of other suggestive clinical symptoms.
Leptomeningeal carcinomatosis results from dissemination of malignant cells to leptomeninges and can be observed in about 5% of patients with malignancies, but it is likely to become more frequent with the increase of life expectancy in cancer patients . Neoplastic cells may spread to the subarachnoid space through (1) arterial circulation or, less frequently, through (2) retrograde flow in venous systems or (3) as a direct consequence of preexisting brain metastases or (4) through migration of neoplastic cells from the original tumor along perineural or perivascular spaces [2, 3]. Clinical manifestations can be highly variable and may affect both central (CNS) and peripheral nervous system (PNS). CNS involvement may lead to generalised symptoms such as seizures, confusion, encephalopathy, or intracranial hypertension as well as, less frequently, to focal neurological symptoms, mainly consisting in hemiparesis or aphasia. PNS involvement may present with lumbar and cervical radiculopathies or cranial neuropathies . Ocular symptoms even in the absence of other clinical symptoms may represent the initial manifestation of meningeal carcinomatosis. Thus, meningeal carcinomatosis should be considered in the differential diagnosis in selected patients even if making the diagnosis is often challenging. Diagnostic tools consist mainly of contrast enhanced CT and MRI and lumbar puncture. Treatment options such as radiation and intrathecal chemotherapy are often palliative with an expected median patient survival of 2 to 6 months .
Ocular symptoms were the presenting clinical feature in 34 out of 41 patients (83%) and were the only manifestation of meningeal carcinomatosis in 3 patients (7%). Visual loss was the presenting clinical manifestation in 17 patients (50%) and was the most common ocular symptom (70%). Visual loss was bilateral in 8 patients and unilateral in 2 patients. Sequential optic nerve involvement was observed in 5 patients. Three patients had sudden onset of blindness. Visual loss was progressive in other six patients.
Ocular involvement represents a frequent manifestation of meningeal carcinomatosis. The reported frequency of ocular signs may be as high as 90% . The present report is an updated and systematic review of ocular manifestations of neoplastic meningitis. Our data show that ocular symptoms often represent the first clinical manifestation of meningeal carcinomatosis (83%) and the only clinical manifestation in a small proportion of subjects (7%). For this reason it should be considered in the differential diagnosis even in the absence of associated clinical symptoms more suggestive of meningeal carcinomatosis such as headache (58%), altered consciousness (24%), meningism (19%), focal signs (34%), dizziness (15%), seizures (10%), and cranial nerves other than ocular involvement (32%). The most common ocular manifestation was visual loss (70%) followed by diplopia (41%), ptosis (19%), papilledema (10%), anysocoria (7%), exophthalmos (5%), orbital pain (5%), scotomas (5%), hemianopsia (2%) and nystagmus (2%). Gadolinium-enhanced MRI was diagnostic only in about one third of patients. Meningeal enhancement was detected in about one third of patients; in two of them (25%) it was associated with focal optic nerve enhancement. In one patient (12%) contrast-enhanced MRI revealed isolated optic nerve enhancement. CSF examination was abnormal in all (36) but one patient. The most common finding was increased proteins level (44%), increased cells count (30%), and decreased glucose (22%). Citology was positive in a high proportion of patients (76%) with solid tumors being the more frequent. The first CSF examination may be inconclusive, thus if clinical and radiological suspicion persist and cell count is increased, a repeated lumbar puncture is recommended.
Ocular involvement is a frequent and early clinical manifestation of meningeal carcinomatosis. Moreover clinicians should be aware that ocular involvement may mimic different diseases as shown in our case report, where neoplastic optic nerve involvement was indistinguishable from optic neuritis. Thus meningeal carcinomatosis should be included in the differential diagnosis of diplopia and visual loss in selected patients because diagnosis is often challenging.
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