|Year : 2015 | Volume
| Issue : 3 | Page : 146-148
She feels no pain: A child with congenital insensitivity to pain and anhidrosis
Sanjay N Agrawal, Yogeshree R Deshmukh, Manasi N Deshmukh
Department of Dermatology, Dr. Panjabrao Deshmukh Memorial Medical College, Amravati, Maharashtra, India
|Date of Web Publication||10-Jul-2015|
Yogeshree R Deshmukh
Birthday Hall, 5 Keshav Colony, Camp Road, Amravati - 444 602, Maharashtra
Source of Support: Nil., Conflict of Interest: There are no conflicts of interest.
The hereditary sensory and autonomic neuropathies encompass a number of inherited disorders that are associated with sensory dysfunction and varying degree of autonomic dysfunction. Hereditary sensory and autonomic neuropathy (HSAN) with anhidrosis type IV is the second most common form of hereditary sensory neuropathy. We report here the youngest case diagnosed with HSAN type IV having all features of congenital insensitivity to pain and anhidrosis.
Keywords: Congenital insensitivity to pain and anhidrosis, hereditary sensory and autonomic neuropathy, youngest patient
|How to cite this article:|
Agrawal SN, Deshmukh YR, Deshmukh MN. She feels no pain: A child with congenital insensitivity to pain and anhidrosis. Indian J Paediatr Dermatol 2015;16:146-8
|How to cite this URL:|
Agrawal SN, Deshmukh YR, Deshmukh MN. She feels no pain: A child with congenital insensitivity to pain and anhidrosis. Indian J Paediatr Dermatol [serial online] 2015 [cited 2019 Jun 24];16:146-8. Available from: http://www.ijpd.in/text.asp?2015/16/3/146/160652
| Introduction|| |
The HSAN encompasses a number of inherited disorders that are associated with sensory dysfunction that is, depressed reflexes, altered pain and temperature perception and varying degree of autonomic dysfunction that is, gastroesophageal reflux, postural hypotension, excessive sweating.
Dyck and Ohta proposed five distinct types of HSAN, of which type II and IV shows autosomal recessive inheritance. Its onset is at birth. Each HSAN disorder is likely to be caused by different genetic errors that affect specific aspects of small fiber neurodevelopment, which result in variable phenotypic expression.
Diagnosis is based on clinical features, the degree of both sensory and autonomic dysfunction. Chemical evaluation and pathological examination serve further to confirm the differences between them. Treatments for all these disorders are supportive.
| Case report|| |
A 4-year-old female child born of nonconsanguineous marriage was brought to our Outpatient Department for recurrent nonhealing ulcer over right sole with autoamputation of the middle finger of right hand. Her mother told that child had repeated episodes of febrile convulsions in her initial months of life. This required frequent hospitalization. She gave history of repeatedly pouring of cold water on body in hot summer as she never sweats. Her mother was worried about her hyperactive behavior having frequent history of biting tip of tongue and tip of fingers, putting her hand in lighted candle. There was no history of pain on immunization and fall. She also had history of frequent micturition and defecation.
From the narrated history, we made the probable diagnosis of HSAN type IV as it was associated with absence of sweating, self-mutilation, hyperactive behavior, insensitivity to pain, incontinence of urination and defecation.
On physical examination, she had bite marks on her tongue and tip of fingers. Her denture line was disturbed [Figure 1]. A well-defined, deep ulcer was present over right hind foot. The ulcer was 1 cm × 1 cm in size and 1 cm deep. It was clean, base was hard and tendons and muscles were visible. It was nontender. There was no discharge [Figure 2]. Multiple old scar marks of traumatic ulcers were present on both feet and hands. Right hand showed autoamputation of two fingers [Figure 3]. Her milestone development was normal. Hair and nails were normal.
On neurological examination, deep tendon reflexes were absent. Her tactile sensation is present but pain and temperature absent. She is conscious, oriented with no cardinal nerve deficit and normal muscle bulk and power. There were no hypopigmented macules or thickened palpable nerves.
Investigations revealed hemoglobin on lower side that is, 9 g/dl. Other investigations such as total and differential leukocyte counts, thyroid function tests, urine examination were within normal limits. There was no organomegaly on ultrasonography. Ophthalmic examination was normal. X-ray of hand showed evidence of acro-osteolysis of 2nd, 4th, 5th fingers of right hand and sclerosis and resorption of middle phalanx of ring finger of right hand.
Skin punch biopsy was suggestive of anhidrotic ectodermal dysplasia. There was absence of sweat glands [Figure 4].
Nerve conduction studies were suggestive of motor-sensory (sensory > motor) mixed (demylinating > axonal) polyneuropathy. Due to nonavailability, molecular DNA study was not done.
| Discussion|| |
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSAN) is a condition used to describe any of the types of this disease which inhibit sensation. Five different clinical entities have been described under HSAN that is, types I, II, III, IV, V. All are characterized by progressive loss of function that predominantly affects the peripheral sensory nerves. Their incidence has been estimated to be about 1 in 25,000.
- Type I - HSAN
- Type II - Congenital sensory neuropathy
- Type III - Familial dysautonomia (FD) or Riley-Day syndrome
- Type IV - Congenital insensitivity to pain with anhidrosis (CIPA)
- Type V - CIPA.
The clinical picture of our patient is highly suggestive of HSAN type IV. Investigations ruled out diabetic neuropathy, metabolic disorder neuropathy and other peripheral neuropathies. Other simulating disorders with HSAN like Lesch-Nyhan syndrome, Tourette syndrome and De Lange syndrome cannot explain the incontinence and defecation in this case.
Hereditary sensory and autonomic neuropathy type IV is a rare genetic disorder characterized by the loss of sensation (sensory loss), especially in the feet and legs and less severely, in the hands and forearms. The sensory loss is due to abnormal functioning of small, unmyelinated nerve fibers and portions of the spinal cord that control responses to pain and temperature as well as other involuntary or automatic body processes. It is characterized by anhidrosis, absent or markedly decreased sweating. It is the anhidrosis that causes episodic fevers and extreme hyperpyrexia. It is usually the earliest sign of the disorder and can cause recurrent febrile convulsions secondary to high environmental temperature.,
Like FD, HSAN IV is associated with decreased sensation and autonomic dysfunction. It may be confused with FD in the neonatal period but the differences become much clearer with time as the characteristic anhidrosis causes cutaneous changes and the sensory insensitivity is much more profound resulting in self-mutilation, auto-amputation, and corneal scarring., Although there is no immunological problem, individuals with HSAN IV have definite problems in healing of ectodermal structures skin and bone. Fractures are slow to heal and large weight-bearing joints appear particularly susceptible to repeated trauma and frequently go on to the development of Charcot joints and osteomyelitis. Speech is usually clear. Although hypotonia and delayed developmental milestones are frequent in the early years, strength and tone normalize with age. However, there can be severe learning problems. Hyperactivity and emotional lability are common.
Medical management is supportive. It is oriented to control of hyperthermia, prevention of self-mutilation and treatment of orthopedic problems that potentially can cause severe and debilitating deformities. Careful daily inspection for unrecognized injury is important. Braces may be required on the ankles to prevent injury to these weight bearing joints. Some children will require smoothing of the teeth or extraction to prevent self-mutilation of the tongue and lips. Irritability, hyperactivity and susceptibility to rages are seen in about 50% of patients. The prognosis for independent function depends on the degree of disease expression and the ability to control the secondary clinical problems.
Hereditary sensory and autonomic neuropathy type IV is second most common disorder. Very few cases had been reported in India. We claim to report the youngest female child with HSAN type IV fulfilling all the clinical, biochemical and histopathological criteria for the diagnosis.
| References|| |
Axelrod FB. Autonomic and sensory disorders. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. Principles and Practice of Medical Genetics. 5th
ed., Vol. 3. Edinburgh: Churchill Livingstone; 2007. p. 2802-16.
Dyck P, Ohta M. Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons. In: Dyck PJ, Thomas PK, Lambert EH, editors. Peripheral Neuropathy. Vol. 2. Philadelphia: WB Saunders; 1975. p. 791.
Axelrod FB, Pearson J. Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Child 1984;138:947-54.
Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, et al
. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 1996;13:485-8.
Toscano E, Andria G. Congenital insensitivity to pain with anhidrosis: An NGF/TrkA-related disorder. Am J Med Genet 2001;99:164-5.
Rosemberg S, Marie SK, Kliemann S. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol 1994;11:50-6.
Pinsky L, DiGeorge AM. Congenital familial sensory neuropathy with anhidrosis. J Pediatr 1966;68:1-13.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]