A case of hereditary sensory and autonomic neuropathy type 4 presenting with chronic trophic ulcers

Hereditary Sensory and Autonomic Neuropathy (HSAN) is a rare group of diseases involving varying degrees of peripheral nervous system. It is classified into five main types. HSAN type 4 is associated with insensitivity to pain and temperature and anihidrosis. The method of this study was to authors present a case report of a 3 year-old boy with Hereditary Sensory and Autonomic Neuropathy Type 4 presenting with chronic ulcers. Conclusions of this study was to HSAN type IV is a rare condition. There is no definitive treatment available presently for this condition.

A case of primary immunodeficiency: hyper IgM syndrome

Hyper IgM syndrome are group to disorders characterized by elevated serum level of IgM and low or absent serum levels of IgG, IgA and IgE the mechanism of HIGM is immunoglobulin Class-Switch Recombination (CSR) failure and Somatic Hyper Mutation (SHM). This diagnosis should be considered in any patient presenting with hypogammaglobulinemia, with low or absent IgG and IgA and normal or elevated IgM level. In the present case report, this was a 6-year-old male child who had history of recurrent respiratory tract infections who presented with otitis media and persistent fever spikes. Immunoglobulin studies revealed a pattern consistent with hyper IgM.