Profile of Hemophagocytic Lymphohistiocytosis in Children in a Tertiary Care Hospital in India.

Objective: To describe the epidemiology, clinical features, laboratory findings, outcome and the difficulties in diagnosis and management of children with Hemophagocytic Lymphohistiocytosis (HLH) in a tertiary children’s hospital in India. Study Design: Retrospective analysis of case records of all the children with a diagnosis of HLH from December 2006 to December 2008. Setting: Tertiary care children’s teaching hospital in Chennai, India. Results: 43 children had a diagnosis of hemophagocytosis, of who only 33 (19 male, mean age 46 months, range 50 days-14 years) met the inclusion criteria based on the HLH-2004 protocol of the Histiocyte Society. The predominant presenting features included prolonged fever and hepatosplenomegaly. CNS symptoms were present in 36%. Anemia (Hb <9gm/dL), and thrombocytopenia (platelets <1,00,000/mm3) were present in 97% and 72%, respectively. Among the biochemical markers, hyperferritinemia was present in 97%, and hypofibrinogenemia and high LDH in 92%. Bone marrow examination showed hemophagocytosis in 84%. Infectious agents were identified in 42% children, with viruses accounting for 2/3 of them (5 Dengue virus, 3 EBV, 1 CMV, 1 TB and 5 bacterial agents). The mean duration between the onset of symptoms and the diagnosis was 16 days. Corticosteroids were the most commonly used immunomodulatory agents (67%), followed by IVIg (64%). Cyclosporine was used in 33% and Etoposide in 15%. Improvement of laboratory parameters was noticed within 5-7 days of starting treatment. Overall survival rate was 76%. Conclusion: HLH should be considered in the differential diagnosis of children with prolonged fever, hepatosplenomegaly and cytopenia. Prompt recognition and appropriate therapy may result in good outcome, particularly in Infection associated HLH.

Naxos disease: a rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma.

Naxos disease is a rare genodermatosis with woolly hair, keratoderma of palms and soles and cardiomyopathy. A seven-year-old boy presented with woolly hair and hyperkeratotic lesions on the palms and soles since birth. His cardiac status was evaluated and echocardiography revealed early cardiomyopathy. Scalp biopsy revealed hair shaft in an angulated outline suggestive of woolly hair. So the diagnosis of Naxos disease was made. Since he was asymptomatic no treatment was offered but a regular follow-up of the patient and treatment of emergent symptoms should prevent sudden death.