A late neurologic syndrome that includes cerebellar ataxia may occur in patients years after they appeared to be disease-free. Other manifestations include involvement of lymph nodes and spleen, bone marrow involvement with anemia, neutropenia and thrombocytopenia, hepatomegaly with abnormal liver function and involvement of the genital tract in young women. Ocular involvement includes orbital, intraocular, neuro-ophthalmological, and lid disturbances. It is usually an unifocal granuloma with a predilection for the superotemporal orbital bone. Orbital soft tissue involvement without an obvious bone defect is rare.
Intraocular involvement is rare.
It is usually seen in infants with the subacute disseminated form and consists of infiltration of intraocular structures, especially of the uvea. Optic neuropathy and cranial nerves palsies are rare as the orbital mass is usually extraconal and destruction of the orbital wall may result in orbital decompression. Papilledema and secondary optic atrophy may result from raised intracranial pressure secondary to intracranial mass lesions. Diagnosis - Laboratory findings may reveal neutrophilia, increased sedimentation rate and increased serum alkaline phosphatase levels, however, the diagnosis is based on a biopsy of involved organs. The diagnosis is made with the presence of pathologic Langerhans cells, marker studies for the presence of S-100, CD1, and ultrastructural finding of Birbeck bodies.