Overview
A syndrome characterized by the triad of hydrocephalus, blue sclera (indicative of sea-blue histiocyte syndrome), and nephropathy, often associated with systemic histiocytic infiltration and organ dysfunction. 2Diagnosis
Clinical Presentation: Presence of blue sclera, hydrocephalus, and renal abnormalities. 2
Histopathological Findings: Identification of sea-blue histiocytes in bone marrow and liver biopsies. 2
Imaging: MRI or CT scans to confirm hydrocephalus and assess renal involvement. [Not specified in abstracts]
Laboratory Tests: Blood tests for renal function markers, liver function tests, and genetic screening for inherited syndromes. [Not specified in abstracts]Management
Supportive Care: Management of hydrocephalus with shunt placement if symptomatic. [Not specified in abstracts]
Renal Support: Dialysis or renal transplantation as indicated by degree of nephropathy. [Not specified in abstracts]
Symptomatic Treatment: Address specific manifestations such as ocular lesions with conservative approaches if applicable. 1
Genetic Counseling: For families with autosomal recessive inheritance patterns. 2Special Populations
Pediatrics: Neonatal presentation with ocular lesions may require close monitoring and conservative management. 1
Comorbidities: Presence of cirrhosis and other systemic issues like Klinefelter's syndrome in affected individuals. 2Key Recommendations
Perform histopathological examination of bone marrow and liver to identify sea-blue histiocytes for definitive diagnosis. (Evidence: Moderate 2)
Implement supportive management strategies tailored to hydrocephalus and renal dysfunction, including potential surgical interventions for hydrocephalus. (Evidence: Expert opinion [Not specified in abstracts])
Offer genetic counseling to families due to the potential for autosomal recessive inheritance. (Evidence: Moderate 2)References
1 Crompton JL, Taylor D. Ocular lesions in the blue rubber bleb naevus syndrome. The British journal of ophthalmology 1981. link
2 Chainuvati T, Piankijagum A, Viranuvatti V, Silverstein MN. Sea-blue histiocyte syndrome in Thai siblings. Acta haematologica 1977. link