Multisystem Involvement in a Rare Case of Histiocytosis Lymphadenopathy Plus Syndrome

Abstract

Aim: The aim of this case report was to understand the pleomorphic nature of this rare syndrome and to create awareness regarding the need for multidisciplinary approach towards this disease. Presentation of Case: We report a case of a 5 year 9 month old child, who presented with megaloblastic anemia, bilateral sensorineural hearing loss, antibody negative diabetes mellitus, hepatosplenomegaly and short stature with mitral regurgitation. Thorough laboratory and genetic evaluation confirmed the diagnosis of histiocytosis lymphadenopathy plus syndrome. Child was started on immunomodulators along with other supportive treatment. Discussion: Histiocytosis lymphadenopathy plus syndrome is a rare genetic disorder, caused by mutation in the SLC29A3 gene which encodes for the hENT3 transporter. This transporter is found mainly in lysosomal and mitochondrial membrane.It is characterized by symptoms such as hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, hypogonadism, hyperglycemia, and heart-related issues. Due to overlapping clinical features with various other disorders, this syndrome can be easily missed. Conclusion: Early diagnosis and treatment is the key to prevent and manage the multisystem complications associated with this rare syndrome.