|Year : 1992 | Volume
| Issue : 4 | Page : 257-259
Congenital sensory neuropathy with anhidrosis
NL Sharma, VK Sharma, Anu Sood
N L Sharma
Source of Support: None, Conflict of Interest: None
A 6-year old boy having congenital sensory neuropathy and partial anhidrosis is reported. The patient had some unusual features like absence of mental retardation and deep tendon reflexes and a distal type of sensory loss. Nomenclature of the disease is discussed.
Keywords: Congenital sensory neuropathy
|How to cite this article:|
Sharma N L, Sharma V K, Sood A. Congenital sensory neuropathy with anhidrosis. Indian J Dermatol Venereol Leprol 1992;58:257-9
|How to cite this URL:|
Sharma N L, Sharma V K, Sood A. Congenital sensory neuropathy with anhidrosis. Indian J Dermatol Venereol Leprol [serial online] 1992 [cited 2019 Oct 20];58:257-9. Available from: http://www.ijdvl.com/text.asp?1992/58/4/257/3811
| Introduction|| |
Patients of sensory neuropathies (CSN) have absence of nerve fibres and are insensitive to pain and often other sensations. Congenital sensory neuropathy with anhidrosis (CSNA) is a type in which there is absence of sweating also. Very few patients of this disorder have been reported ,,,, and a uniform clinical pattern has not yet emerged. We report a case of CSNA which had some unusual features.
| Case Report|| |
A 6-year-old boy presented with nonhealing, infected painless fissures over the plantar aspect of great toes. He was born of an uneventful pregnancy and delivery in non-consanguineous parents.. At the age of 3 months, the baby started getting bullous lesions over extensor aspects of hands, feet, and legs which were followed by delayed healing. There was a history of repeated chest infections. The parents had also noticed excessive sweating over the face when the child was asleep. There was no history of similar disorder in the family.
The child was active, there were no abnormal movements or signs of self mutilation. His pulse rate and blood pressure were normal. The body temperature did not show any diurnal variations. His facies, hair, nails, palms and soles were normal. Examination of the oral cavity showed caries and imperfect formation of hard dental tissue. Fungiform papillae were present.
The higher functions and the cranial nerves were normal except obtunded corneal sensations. Posterior column and sensory cortex functions were intact. Muscle tone was normal. Deep tendon reflexes were sluggish in the upper limbs and absent in the lower limbs. Superficial reflexes were also absent except the anal sphincteric reflex. The areas of loss of pain and touch sensations were identical and affected whole of the lower limbs and abdominal wall upto costal margin in front and gluteal fold on back. In the upper limbs these sensations were absent upto the elbows. Temperature sensation was lost in the glove and stocking pattern.
The baseline lacrimation was normal as tested by Schirmer's test. Overflow tearing was present. Pupillary hypersensitivity to methacholine chloride was not tested. Starch iodine test showed complete absence of sweating over the limbs but sweating was near normal over the trunk. Axonal flare response to histamine was not tested but it was absent on vigorous stroking and rubbing the leaves of Urtica dioca on the forearm.
The investigations showed a normal haemogram, urinalysis, blood sugar, proteins, cholesterol, phosphorus, alkaline phosphatase, SGOT/PT, urea and creatinine. VDRL test on blood and CSF were negative. CSF biochemistry and cytology were within normal limits. Culture of pus from the ulcer grew Staphylococcus aureus. Serum IgG (1600mg/dl) and IgA (180 mg/dl) were significantly raised while IgM was normal. Roentgenograms of chest showed evidence of bronchopneumonia while those of hand and feet were normal. Sural nerve biopsy under hematoxylin and eosin stain showed normal architecture.
| Comments|| |
Ohta et a1  classified hereditary sensory neuropathies into 4 types (HSN Types I to IV). The HSN type IV is a congenital type of sensory neuropathy with anhidrosis (CSNA). Ishii et al  reviewed 22 previously reported cases of CSNA and suggested that the diagnostic features of these cases are loss of pain and thermal sensations, anhidrosis, mental retardation, unexplained fevers and self mutilation; while the touch sensation and lacrimation are normal, About the case of MacEwen and Floyd,  they commented that it should be deleted as it had no mental retardation and loss of thermal sensation. However, atleast 5 cases have been reported who did not fit in any of these types of neuropathies. Though they and CSN and anhidrosis but Ishii et al  have not mentioned about them. These cases have been placed under different nomenclatures by their authors as overlap of type II and IV or type V neuropathy.
Our patient also had minor variations and a unique feature of partial anhidrosis [Table - 1]. He had a distal type of sensory loss, including touch sensation, absent deep tendon reflexes in lower limbs and no mental retardation. In our opinion, the primary diagnostic features of CSNA, as the name implies should only include a congenital sensory neuropathy and anhidrosis. Minor sensory and other clinical variations should not invite different nomenclatures.
| References|| |
|1.||Ishii N, Kawaguchi H, Miyakawa K, Nakajima H. Congenital sensory neuropathy with anhidrosis. Arch Dermatol 1988; 124: 564-6. [PUBMED] |
|2.||Dyck PJ, Mellinger JF, Reagan TJ, et al. Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy. Brain 1983; 106: 373-90. [PUBMED] |
|3.||Low PA, Burke WJ, Mclood JC. Congential sensory neuropathy with selective loss of small myelinated fibres. Ann Neurol 1978; 3: 179-82. |
|4.||Axelford FB, Pearson J. Congenital sensory neuropathy: diagnostic distinction from familial dysautonomia. Am J Dis Child 1984; 138: 947-54. |
|5.||Person JR, Rogers RS, Rhodes KH. Congenital sensory neuropathy: report of an atypical case. Arch Dermatol 1977; 12: 1954-7. |
|6.||Ohta M, Ellefson RD, Lambert EH, et al. Hereditary sensory neuropathy, type II, Clinical electrophysiologic, histologic and biochemical studies of a Quebec kinship. Arch Neurol 1973; 29: 23-37. |
|7.||MacEwen GD, Floyd GC. Congenital insensitivity to pain and its orthopaedic implications. Clin Orthop 1970; 68: 100-7. |
[Table - 1]
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