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   Introduction
   Case Report
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CASE REPORT
Year : 1992  |  Volume : 58  |  Issue : 4  |  Page : 273-276

Congenital indifference to pain




Correspondence Address:
A Y Kapasi


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  Abstract 

A 9-month old female infant developed a non-healing deep necrotic ulcer on the tongue in apposition with the central incisors. There was no response to painful stimuli. Investigations revealed normal blood biochemistry, sweat, histamine and capsaicin tests. Nerve conduction studies and light microscopy of sural nerve and skin were normal. The child was diagnosed as a case of congenital indifference to pain and was treated with teeth extraction and plastic repair of the tongue. In next 2 years the child had recurrent ulcers of the tongue leading to fibrosis and shortening of tongue hampering the speech.


Keywords: Analgesia, Congenital indifference to pain


How to cite this article:
Kapasi A Y, Trasi S S, Khopkar U S, Wadhwa S L. Congenital indifference to pain. Indian J Dermatol Venereol Leprol 1992;58:273-6

How to cite this URL:
Kapasi A Y, Trasi S S, Khopkar U S, Wadhwa S L. Congenital indifference to pain. Indian J Dermatol Venereol Leprol [serial online] 1992 [cited 2019 Aug 19];58:273-6. Available from: http://www.ijdvl.com/text.asp?1992/58/4/273/3817



  Introduction Top


Congenital indifference to pain is a sensory disorder with anatomically and physiologically normal nervous and cutaneous systems. Improvement is noticed with increasing age.

The first description of congenita indifference to pain appeared under the title of "A case of congenital general pure anaesthesia", the affected individual popularly known as the "human pincushion" [1] The criteria for the diagnosis of congenital indifference to pain are not well defined probably due to lack of recent investigative facilities in the past. [2] An extensive review of 40 cases was done by Nafe et al in 1957. [3] Patients with congenital indifference to pain generally present with repeated trauma, fractures or self mutilation. They lack the normal defensive response to pain sensation but the response to other sensations is normal. There are no anatomical abnormalities of the skin or nervous system as demonstrated by light microscopy. [4]


  Case Report Top


A 9-month-old female infant had a non-healing ulcer on the tongue of 3 months duration and an ulcer on the base of left index finger for 1 month. There was no history of repeated trauma or fractures.

The child was a full-term normal baby born of second degree consanguineous marriage with normal physical and mental milestones. The examination of the tongue revealed a deep ulcer, about 3 cm in diameter on its undersurface with a necrotic floor covered with yellow slough and irregular edges. [Figure - 1] There were 2 deep linear teeth marks on the dorsal surface of the tongue. The child was seen biting the tongue without any evidence of pain. Lips and other mucosae were normal. Cutaneous examination revealed a single clean rounded ulcer of 1 cm diameter on base of left index finger. Repeated sensory examination revealed absence of withdrawal [Figure - 2] or crying on pinprick but physiological response to such external painful stimuli in the form of increased blood pressure, pulse and respiratory rate were comparable to a normal age matched control. Psychiatric evaluation, central nervous system, dental and other systemic examinations were normal.

Routine blood, urine, stool and radiological examinations were normal. Serum uric acid level was 5.9 mg/d1. Urinary vanillyl mandelic acid level was normal. Intradermal injection of histamine elicited triple response of Lewis. Bromophenol blue paper test showed preserved sweating and local irritant agent, capsaicin, produced normal erythematous response. All the 3 tests gave comparable positive results when performed on an age matched control. [Figure - 3].

Nerve conduction studies revealed normal motor and sensory action potential and average nerve conduction velocity. Somatosensory evoked potential indicated intact large fibre conduction. Small fibre conduction was not conclusive since collision studies were not available. Sural nerve biopsy revealed normal myelinated small and large fibres on haematoxylin and eosin, Marsland silver, as well as Picro­Mallory-Glees stained sections.

The diagnosis of congenital indifference to pain was made. The treatment was directed towards management of deep tongue ulcer and prevention of recurrence. This was achieved by teeth extraction followed by plastic repair of the tongue. [Figure - 1].

The patient was followed up for further 2 years. There were recurrent episodes of small ulcers on ventral surface of the tongue on eruption of new teeth, hence further teeth extraction had to be carried out. Repeated ulcers resulted in fibrosis and marked shortening of tongue hampering the speech. Also, ulcers repeatedly appeared on the knees due to falls.


  Comments Top


The term congenital indifference to pain should be applied to patients who perceive correctly the nature of painful stimuli, since peripheral sensory pathways are intact in this disorder but fail to react in the normal defensive manner. They show acceleration of pulse and respiration and rise of blood pressure on painful stimuli. The patient is not mentally deficient and has normal deep tendon and cutaneous axon reflexes as well as normally innervated skin on histological examination.

Other differential diagnoses considered in our patient included, congenital insensitivity to pain [Table - 1] Lesch­Nyhan syndrome, and Fragile X syndrome.

Lesch-Nyhan syndrome is characterized by physical and mental retardation, spastic tetraplegia and athetosis. The child grossly mutilates his face and hands and partial destruction of lower lips may occur due to biting. Serum uric acid levels are high; In our patient the absence of neurological defects and normal uric acid levels ruled out this disease.

Fragile X-Syndrome is a X-linked recessive disorder consisting of mental retardation, large head and ears, long narrow face with midfacial hypoplasia, short stature, and behavioral abnormalities including infantile autism. Infantile autism is defined as failure to develop relatedness to parents and others. It includes self injurious behaviour whereby the child bites, scratches to produce wounds, bangs the head etc. In our patient self injurious behaviour suggested autism but other features were missing hence this diagnosis was not entertained further.

Congenital indifference to pain is a problem which is difficult to control and impossible to treat. A vigilant attention from parents is required to prevent recurrent injuries.


  Acknowledgements Top


We thank the Department of Neuropathology, Bombay Hospital and Dr. (Mrs) S S Pandy from Acworth Hospital for their kind assistance in performing sural nerve biopsy and histopathology of the same.

 
  References Top

1.Dearbon G V N . A Case of Congenital general pure analgesia J Nerv Ment Dis 1932; 75: 612-5.  Back to cited text no. 1    
2.Critchney M . Congenital indifference to pain. Ann Intern Med 1965 ; 45: 737-47.  Back to cited text no. 2    
3.Fanconi G,Ferrazini F . Kongenitale Analgie (Kongenitale Generalisiete Schmerzin­differenz). Helv Paediat Act 1957 ;12: 79-115.  Back to cited text no. 3    
4.Winkilmann R K. Lambert E H, Hayles Alvin B. Congenital absence of pain. Arch Dermatol 1962, 85: 325-9.  Back to cited text no. 4    


    Figures

[Figure - 1], [Figure - 2], [Figure - 3]

    Tables

[Table - 1]



 

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