Congenital insensitivity to pain with anhidrosis: a case report from Pakistan and literature review

ABSTRACT

Congenital insensitivity to pain with anhidrosis is a rare disease with an autosomal recessive inheritance. The patients present in early childhood with frequent episodes of fever and absence of sweating. Painless fractures, bruises and cuts are quite common. Defective lacrimation and mental retardation are strongly diagnostic. Repeated injuries often lead to a reduced life expectancy. The diagnosis depends on relevant clinical features, abnormal sensory response on nerve conduction studies and nerve biopsy showing loss of the unmyelinated and small myelinated fibers. We report here a 5 year old female child who presented for electrodiagnostic evaluation and was found to have this disease