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Ocular and cerebral involvement in familial lymphohistiocytosis

R E Appen, S W Weber, G de Venecia

    American Journal of Ophthalmology
    |November 1, 1976
    PubMed

    Insights

    Familial lymphohistiocytosis caused a 5-month-old infant girl's death. Autopsy revealed widespread central nervous system and ocular infiltration by inflammatory cells, including lymphocytes and histiocytes.

    Area of Science:

    • Pediatric Pathology
    • Neuro-oncology
    • Ophthalmology

    Background:

    • Familial lymphohistiocytosis (FLH) is a rare, life-threatening hyperinflammatory condition.
    • Early diagnosis and treatment are crucial for FLH outcomes.

    Observation:

    • A 5-month-old infant girl presented with fatal familial lymphohistiocytosis.
    • Post-mortem examination revealed extensive central nervous system (CNS) involvement.
    • Ocular tissues also demonstrated significant cellular infiltration.

    Findings:

    • Widespread perivascular infiltration in the cerebral pia, arachnoid, white matter, deep gray matter, cerebellum, and brain stem.
    • Infiltrating cells included lymphocytes, histiocytes, and macrophages exhibiting erythro- and lymphophagocytosis.
    • Ocular findings included anterior uveal tract infiltration, inner retina involvement, and optic nerve infiltration.

    Implications:

    • This case highlights the severe CNS and ocular pathology associated with familial lymphohistiocytosis in infants.
    • Understanding the distribution of cellular infiltration is vital for diagnosing and managing FLH.
    • Further research into FLH pathogenesis may reveal targeted therapeutic strategies.

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