Indian Journal of Dermatology
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CASE REPORT
Year : 2009  |  Volume : 54  |  Issue : 5  |  Page : 1-4
Early onset hereditary sensory autonomic neuropathy type I and not leprosy


Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

Correspondence Address:
Sushil Pande
Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai
India
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Source of Support: None, Conflict of Interest: None


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   Abstract 

Hereditary sensory autonomic neuropathies (HSAN) are rare forms of chronic neuropathies in children, which lead to severe complications like foot ulcers, mutilations, fractures and deformities. We report an eight years old female who presented with nonhealing perforating ulcer over anterior sole, resorption of terminal portion of right middle finger and hyperhidrosis over back since two years of age. Deep tendon reflexes were absent in lower legs but were preserved in upper limbs. Nerve conduction studies and nerve biopsy confirmed the diagnosis of HSAN, Type I. Early diagnosis of hereditary sensory neuropathy led to significant reduction in morbidity and hence improvement in the quality of life in our patient.


Keywords: Hereditary sensory autonomic neuropathy, Hyperhidrosis, leprosy


How to cite this article:
Pande S, Kharkar V, Mahajan S, Khopkar U. Early onset hereditary sensory autonomic neuropathy type I and not leprosy. Indian J Dermatol 2009;54, Suppl S1:1-4

How to cite this URL:
Pande S, Kharkar V, Mahajan S, Khopkar U. Early onset hereditary sensory autonomic neuropathy type I and not leprosy. Indian J Dermatol [serial online] 2009 [cited 2019 Oct 20];54, Suppl S1:1-4. Available from: http://www.e-ijd.org/text.asp?2009/54/5/1/45429



   Introduction Top


About 70% of chronic neuropathies in children are hereditary. Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic disorders characterized by sensory and autonomic neuropathies. They are subdivided into five types with each having distinct clinical features. Confirmatory diagnosis is done on the basis of these clinical features, pattern of inheritance, tests of sensory and autonomic dysfunction and nerve biopsy. Management includes early diagnosis, care and treatment of deformities.


   Case History Top


An 8-year-old female child born of non-consanguineous marriage presented with excessive sweating all over the body especially over the back, painless ulcer over right anterior sole since 2 years of age and deformity of left leg. There was no history of feeding difficulties, recurrent vomiting, abdominal pain, or blisters in photo-exposed areas. There was no family history of similar complaints, diabetes mellitus or Hansen`s disease.

All vital parameters were within normal limits. There was non-tender swelling of right middle finger [Figure 1] and right second toe with resorption of terminal portion of digits [Figure 2]. Deep nontender ulcer of 33cm size with hyperkeratotic edges was present on the plantar aspect of right sole at the base of second toe and great toe. There was anhidrosis of palms and soles but hyperhidrosis observed over the back [Figure 3] was notable. Examination of sensory system revealed loss of pain and temperature sensations below both knees. Touch sensations were normal. Biceps and triceps jerks were normal however ankle and knee jerks were absent. On ophthalmic examination, anisocorea was present and instillation of 2% pilocarpine eye drops showed pupillary dilatation, right more than left. Tear flow was normal.

Complete hemogram, urinalysis, chest X-ray, fundoscopy, pure tone audiometry revealed no abnormality. X-ray of right hand revealed acro-osteolysis of terminal phalanx of right middle finger. X-ray of left upper tibia was suggestive of old malunited fracture with abundant callus formation [Figure 4]. CT scan of left knee joint was suggestive of neuropathic joint disease. MRI scanning of spine showed no evidence of syringomyelia. EMG/NCV studies revealed predominantly sensory neuropathy. Nerve biopsy with Picro-Mallory stain was suggestive of non-inflammatory neuropathy with loss of myelinated nerve fibres. Fite-Faraco stain for lepra bacilli was negative. On the basis of clinical findings and investigations, the patient was diagnosed as hereditary sensory and autonomic neuropathy type I (HSAN I). Karyotyping showed normal 46XX pattern, however specific mutations could not be identified due to lack of facilities i.e. unavailability of specific DNA probes. Nerve histogram and electron microscopy was not done as the parents refused for further investigations. Parents were explained about the condition and care to be taken. On follow up, ulcer over right middle finger and on right sole healed partially, sensory loss and deformity being persistent. The deformity of left leg due to malunited tibial fracture was surgically corrected but surgical correction was unsuccessful with the persistence of deformity.


   Discussion Top


About 70% of chronic neuropathies in children are hereditary in nature as reported in the western literature. [1] Although the exact incidence of hereditary neuropathies in India is not known, considering the fact that many cases are reported, [2],[3],[4],[5] hereditary neuropathies are certainly not uncommon despite more prevalent causes of chronic peripheral neuropathy in India like leprosy, nutritional deficiency, diabetes, lead-poisoning, HIV etc.

According to Dyck classification, hereditary neuropathies are classified as Hereditary Sensory Motor Neuropathy (HSMN) and Hereditary Sensory Autonomic Neuropathy (HSAN). HSAN is sub-classified on the basis of clinical, histopathologic and genetic characteristics [Table 1].

HSAN I is an autosomal dominant disorder, manifests in 2 nd -4 th decade, [6] characterized by progressive distal sensory loss predominantly affecting the lower limbs. Genetic analysis has shown that a similar disease may be inherited by autosomal recessive rather than typical autosomal dominant inheritance with variable expression. [1] HSAN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long-chain base subunit 1 (SPTLC1). [7] Foot ulcers, severe skin and bone infections, arthropathy and amputations are frequent and feared complications. Autonomic fibres are affected to variable degree. [8] Differential diagnoses are lumbosacral syringomyelia, HSAN type II, Hereditary sensory and motor neuropathy (HSMN) and Hansen's disease. HSAN type II has an early onset, generalized anhidrosis and absent deep tendon reflexes in both upper and lower limbs. This is in contrast to late onset, hyperhidrosis and absent deep tendon reflexes in lower limbs and preservation of deep tendon reflexes in upper limbs observed in HSAN type I. This helped us to differentiate HSAN Type I from HSAN Type II [Table 1]. However diagnosis of HSAN is mainly clinical and investigations are not mandatory for diagnosis of the disease or identifying the type of HSAN.

Patient did not have motor weakness, muscle atrophy or loss of motor action potentials ruling out much more commonly occurring  Charcot-Marie-Tooth disease More Details or HSMN I. [9] The perforating neurotrophic ulcer over pressure areas of the soles and symmetrical sensory loss below knees is present similar to that in Hansen's disease, however deep tendon reflexes are lost in lower extremities unlike Hansen's disease [Table 2].

Sensory loss, anhidrosis, trophic ulcerations and deformities can simulate much more commonly occurring Hansen's disease in our country. Hence there is need for their differentiation, particularly when cases of leprosy in early life and even at birth are reported. Though rare, early diagnosis of these neuropathies and subsequent foot care can lead to significant reduction in potential complications like non-healing foot ulcers, osteomyelitis and deformities.

We report this case with a distinctive feature of early onset of hereditary sensory autonomic neuropathy type I which was difficult to differentiate from HSAN type II. In India, dermatologists should be aware of this rare disorder that mimics more prevalent Hansen's disease.

 
   References Top

1.Smith SA, Ouvrier R. Periferal neuropathies in children. In : Swaiman KF, Ashwal S, editors. Pediatric neurology, principles and practice. 3 rd ed. Missouri Mosby Inc; p. 1184.  Back to cited text no. 1    
2.Somani VK, Sucharita V, Sharma VK, Sita V, Razv. Hereditary motor and sensory neuropathy mimicking Hansen's disease. Indian J Dermatol Venereol Leprol 1996;62:189-90.  Back to cited text no. 2    Medknow Journal
3.Murthy SC, Udagani MM, Patil MN. Hereditary sensory neuropathy - type-II. Indian J Dermatol Venereol Leprol 2002;68:375-6.  Back to cited text no. 3  [PUBMED]  Medknow Journal
4.Mishra S, Singh PC. Hereditary sensory neuropathy. Indian J Dermatol Venereol Leprol 1994;60:335-336.  Back to cited text no. 4    Medknow Journal
5.Jacob A, Sarada C, Thomas SV. Painless injuries in a child: Hereditary sensory and autonomic neuropathy. Ann Indian Acad Neurol 2006;9:39-41.  Back to cited text no. 5    Medknow Journal
6.Hilz MJ. Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations Clin Auton Res 2002;12:I33-43.  Back to cited text no. 6    
7.Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, et al . SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. Neurology 2004;62:1001-2.  Back to cited text no. 7  [PUBMED]  [FULLTEXT]
8.Auer-Grumbach M, De Jonghe P, Vrhoeven K, Timmerman V, Wagner K, Hartung HP, et al . Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: Areview. Arch Neurol 2003;60:329-34.  Back to cited text no. 8    
9.Houlden H, Blake J, Reilly MM. Hereditary sensory neuropathies. Curr Opin Neurol 2004;17:569-77.  Back to cited text no. 9  [PUBMED]  [FULLTEXT]


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1], [Table 2]



 

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    Abstract
    Introduction
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