Congenital Generalized Indifference to Pain (Congenital Analgia)

Abstract

Insensitivity to pain is a rare anomaly. It is congenital, probably recessively inherited and affects the skin and mucous membranes, skeleton, and protopathic sensibility. Infants with this disorder often bite their tongues, fingers, and lips, and the wounds heal slowly. Usually parents note at about the third year the child does not cry when injured and seems indifferent to blows or falls. Injuries and burns are frequent, as are secondary infections. Usually these children do not complain of the injury and will continue happy and active. We are reporting a child in whom insensitivity to painful stimuli was first noted in the early weeks of life. By 17 months of age the clinical picture was quite definitely that of congenital analgia. Report of CaseA girl was born in Carle Memorial Hospital on May 20, 1957. The family history was normal, and two older siblings were well. The parents were of Scottish ancestry, and there was no history of consanguinity. Birth was uncomplicated. Birth weight was 8 lb. 8 oz. (3,855 gm.) and length 20 in. On the third day of life she developed a fever, and examination disclosed pharyngitis with multiple punctate lesions on the tonsillar pillars.She became afebrile in 24 hours.On the 10th day trembling of the extremities and excessive startle reflex were noted. Because of associated fever, she was rehospitalized. The anterior fontanel appeared full, but examination was otherwise negative. Behavior appeared normal, and she nursed well. It was noted that the infant did not cry when parenteral penicillin was ad¬ ministered. Urinalysis, urine culture, complete blood count, and stool culture were normal. The spinal fluid was also normal, and no growth was obtained from culture. An electroencephalogram was normal. Roentgenograms of the skull and chest showed no abnormalities, and the fundi were normal. Diagnosis was "fever of undetermined origin."The infant was examined monthly, and motor development and weight gain remained within normal range. All immunizing procedures were carried out without apparent pain. At 11 months of age traumatic lesions from biting the tongue and an abscess of the lower lip were noted. Subse¬ quently furuncles appeared on the chin and upper lip, and all infected areas responded poorly to therapy. At 16 months of age weight was 24 lb. (10,885 gm.) gait was clumsy, and she said no words. Excessive chewing of the buccal areas and fingers had produced further infected lesions. Hyporeflexia was also noted.At 17 months of age the patient developed sudden hyperpyrexia (106 F rectal), and she was rehospitalized. She was stuporous and limp, but physical examination disclosed only infected trau¬ matic lesions of the mouth and hands. Urinalysis showed albuminuria, and urine culture grew Escherichia coli. Neither a K.U.B. examination nor an intravenous pyelogram demonstrated any abnormality. Bone age was normal by roentgenographic studies. The infection of the urinary tract did not clear, and she was hospitalized on the Downloaded From: http://archpedi.jamanetwork.com/ by a O...

Congenital sensory neuropathy with anhidrosis.

“…Conversely, conditions presenting with anhidrosis or hypohidrosis such as anhidrotic ectodermal dysplasia, angiokeratoma corporis diffusum, or incontinentia pigmenti, do not include sensory loss. The present case accords well with the syndrome of congenital sensory neuropathy with anhidrosis; six cases of which were found recently (Gillespie and Perucca, 1960;Swanson, 1963;Pinsky and DiGeorge, 1966). The main features common to these 7 cases (the present case being included) are collected in Table III. Intelligence is defective with an IQ between 40 and 80.…”

Congenital pain asymbolia and auditory imperception.

“…Congenital sensory neuropathy, although sporadic may be transmitted by a dominant mode of inheritance (Ervin and Steinbach, 1960). Gillespie and Perucca (1960) suggested that congenital indifference to pain is probably recessively inherited. The study in respect of possible genetic markers and linkage in the family reported by us is largely negative.…”

Children with Reduced Sensitivity to Pain: Assessment of Hereditary Sensory Neuropathy Types II and IV

“…Two other patients with Horner's syndrome have been reported by Gillespie and Perucca (1960) and Brown and Podosin (1966). Tear formation is normal in HSN type IV, which helps to distinguish it from the Riley-Day syndrome (HSN type Usually the cold pressor test has been negative, possibly because of reduced 111).…”