title: The differential diagnosis of congenital analgesia and other diseases with diminished pain perception in childhood. Case report and review.
abstract: This paper reports the case of a boy aged 10 months who suffers from congenital analgesia in its pure form. All clinical, biochemical, neuro=physiological and histological data considered to be significant in the differential diagnosis are presented. The findings in all diseases in which impairment of pain sensation occurs are tabulated. 38 patients meet the diagnostic criteria for pure congenital analgesia. The diagnostic criteria are generalized indifference to pain dating from birth; no impairment of other sensory modalities; normal intelligence; normal deep tendon reflexes; no visceral pain perception; normal skin biopsy; no diminution of myelinated or un-myelinated nerve fibres in sural nerve biopsy; normal motor and sensory nerve conduction velocities and normal karyotype. The mode of inheritance remains unclear, but it is assumed, that congenital analgesia might be an autosomal-recessively inherited disease.
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D000699:Pain Insensitivity, Congenital / Q000175:diagnosis*