Hereditary sensory autonomic neuropathy (HSAN) type V is a rare autosomal recessive condition caused by mutation in neurotrophic tyrosine kinase receptor type 1 gene located on chromosome 1 (1q21-1q22). It is characterized by pain insensitivity, partial anhydrosis without mental retardation and unimpaired touch and pressure sensitivity. Self-mutilation injury involving teeth, lips, tongue, ears, eyes, nose and fingers are invariable feature of this disorder. This rare disorder can be extremely challenging for the physicians as the symptoms like pain, tenderness is absent and hence most of the symptoms and injuries are frequently missed. Here we report a case of 1-year old female child with HSAN type V, having the typical clinical manifestations of pain insensitivity causing self-mutilation. Apart from the classical manifestations of HSAN type V, our case also had bilateral corneal opacity.

Senior Loken syndrome is an autosomal recessive condition characterized by combination of nephronophthisis and retinal degeneration. The earliest presenting features include polyuria and polydipsia secondary to impaired urinary concentrating ability. Nephronophthisis progresses to end stage kidney disease (ESKD) during second decade. The treatment of choice for ESKD due to nephronophthisis is renal transplantation. Retinal lesions are variable ranging from severe infantile onset retinal dystrophy to more typical retinitis pigmentosa. There is a spectrum of other features associated with this condition including skeletal, dermatological and cerebellar anomalies. Till date very few cases have been reported due to lack of awareness of this rare condition. Here, we report a case of Senior loken syndrome with atypical retinitis pigmentosa in a 14-year-old boy.