Year : 2007 | Volume
: 51 | Issue : 6 | Page : 528--530
Hereditary sensory autonomic neuropathy and anaesthesia - a case report
Nandini Dave1, Anil Sonawane2, Sachin Chandolkar2,
1 MD, DNB, Associate Professor, Department of Anaesthesiology, T N Medical College & B Y L Nair Hospital, Mumbai, India
2 MBBS, P.G.Student, Department of Anaesthesiology, T N Medical College & B Y L Nair Hospital, Mumbai, India
C-303, Presidential Towers, L B S Marg, Ghatkopar West, Mumbai - 400 086
The hereditary sensory and autonomic neuropathies are a rare group of disorders characterized by progressive loss of function that predominantly affects the peripheral sensory nerves. Autonomic dysfunction is present to a variable degree and can have several implications for anaesthesia. We report the case of a patient with Hereditary sensory and autonomic neuropathy who was posted for a below knee amputation and discuss the anaesthesia management.
|How to cite this article:|
Dave N, Sonawane A, Chandolkar S. Hereditary sensory autonomic neuropathy and anaesthesia - a case report.Indian J Anaesth 2007;51:528-530
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Dave N, Sonawane A, Chandolkar S. Hereditary sensory autonomic neuropathy and anaesthesia - a case report. Indian J Anaesth [serial online] 2007 [cited 2021 Jul 29 ];51:528-530
Available from: https://www.ijaweb.org/text.asp?2007/51/6/528/61193
The hereditary sensory and autonomic neuropathies (HSAN) are a diverse group of disorders affecting the development of sensory and autonomic neurons. Five different clinical entities have been described, all characterized by widespread sensory dysfunction and variable autonomic dysfunction  . Their incidence has been estimated to be about 1 in 25000. We found only one reported case in Indian literature  . Anaesthesia for surgical procedures in patients with this rare condition is associated with several risks. We report the anaesthesia management of a patient with HSAN II posted for a below knee amputation.
A 22-year-old female was scheduled to undergo a below - knee amputation for non healing ulcer over left foot. She was a diagnosed case of HSAN. Born of a non- consanguineous marriage and the younger of 2 siblings, she was a full term normal delivery with normal milestones. At the age of 2 years, her parents noticed developing and remitting ulcers over both feet. Four years ago, the patient developed a non healing ulcer and discharging sinus over the right foot.Adiagnosis of chronic osteomyelitis with Charcot's neuropathy in a case of HSAN was made then and she underwent a right below-knee amputation under general anaesthesia. There was no history of visual or auditory problems, bowel or bladder disturbances. There was no history of a similar illness in the family.
On examination, pain and pressure sensations were impaired in a glove and stocking distribution. There was bilateral lower extremity wasting, bilateral fingers showed acromutilation. A neuromedicine reference was made. Tests for autonomic dysfunction revealed impaired cardiovascular response. Nerve conduction study showed absent sensory action potentials in bilateral ulnar, median and radial nerves suggestive of generalized sensory neuropathy. Ophthalmology and ENT consults were sought and examination revealed no abnormality.
After obtaining consent, left below- knee amputation was performed under spinal anaesthesia. Preloading with Ringer's lactate solution using CVP as a guide was commenced prior to setting up of the block. Ten mg of 0.5% bupivacaine (heavy) with 20 mcg fentanyl was injected to achieve a level of T10.Intraoperative monitoring included ECG, saturation monitoring and non invasive blood pressure measurement. The perioperative course was uneventful and the patient maintained stable haemodynamics. She was shifted to the PACU for observation. She was scheduled to undergo closure of the amputation stump at a later date. Histopathologic examination of the specimen showed total loss of myelinated fibres and marked reduction in number of unmyelinated fibres in the sural nerve, consistent with a diagnosis of HSAN Type II.
HSAN has been classified based on natural history (age of onset, course, symptoms and type of inheritance), characteristics of nerve conduction and electromyographic and pathologic abnormality.  The most consistent and distinctive feature of an HSAN is loss of pain and temperature perception.
Type I is the most common, transmitted as an autosomal dominant trait and is characterized by symptoms appearing in late childhood or adolescence. Our patient was diagnosed to have type II HSAN or congenital sensory neuropathy characterized by symptoms in early infancy or childhood. Inherited as an autosomal recessive condition, upper and lower extremities are affected with chronic ulcerations and multiple injuries to fingers and feet.Autoamputation of the distal phalanges and neuropathic joint degeneration is common. The nerve conduction study shows reduced or absent sensory nerve action potentials and nerve biopsy shows total loss of myelinated fibres and decreased number of unmyelinated fibres. Type III (familial dysautonomia, Riley Day syndrome) is an autosomal recessive disorder seen predominantly in Jews of Eastern European descent. Patients present with sensory and autonomic disturbances.Type IV (congenital insensitivity to pain and anhidrosis) and type V are autosomal recessive conditions and affected infants present with episodes of hyperthermia, anhidrosis and insensitivity to pain. Histopathology shows selective absence of small unmyelinated and myelinated fibres respectively.
Diagnosis depends primarily on clinical examinations and specific sensory and autonomic assessments. Pathologic examinations serve to further confirm differences.
The reported anaesthetic experience for HSAN's is largely limited to anaesthesia for patients with HSAN III and IV ,. Autonomic system involvement affects all organ systems. In the gastrointestinal system, it manifests as impaired swallowing, decreased lower oesophageal sphincter pressure and frequent aspirations. Recurrent pneumonias due to aspiration and insensitivity to hypoxia and hypercapnia are the respiratory manifestations. In the cardiovascular system, postural hypotension, orthostatic hypotension and syncopal episodes are common. Dehydration azotemia and progressive loss of renal function occur.
A panel of 5 tests of cardiovascular function has been developed to evaluate autonomic function . These tests include heart rate responses to the Valsalva maneuver, standing up and deep breathing and blood pressure responses to standing up and sustained hand grip. Early autonomic dysfunction is defined as a single abnormal or 2 borderline abnormal results on tests involving changes in heart rate. Definite involvement comes when 2 of the tests of changes in heart rate are abnormal. Severe dysfunction is defined as abnormality in blood pressure assessments.
Intraoperative management is directed towards maintainingcardiovascular stabilityand prevention of pulmonary aspiration.Aspiration prophylaxis and rapid sequence induction are indicated. Cardiac output is preload dependent and preinduction administration of a fluid bolus to achieve euvolemic status can minimize blood pressure variability. Careful titration of anaesthetic agents and opioids is essential to prevent postoperative respiratory compromise. Lack of autonomic feedback to pain stimuli makes it difficult to assess anaesthetic depth. Use of BIS monitor has been reported to titrate anaesthetic agents in a child with congenital insensitivity to pain with anhydrosis (CIPA)  . Regional anaesthesia seems to be well tolerated and may be indicated for appropriate surgical procedures  .
Our patient had abnormalities in the tests for heart rate, although blood pressure measurements were normal, suggestive of definite autonomic involvement. We decided to administer spinal anaesthesia, weighing the risks and benefits, especially so since the surgery was peripheral limb surgery. We chose a low dose bupivacaine-opioid combination for the subarachnoid block to ensure a low level of block and avoid haemodynamic instability. Presence of preexisting central nervous system disorders should not preclude a patient from receiving central neuraxial block  . The risks and advantages of general anaesthesia and neuraxial block, the nature and site of surgery need to be considered before choosing the anaesthetic regimen.
In conclusion, anaesthesia in patients with HSAN is associated with several risks. Better understanding of the various manifestations of this rare disorder and close, continuous cardiorespiratory monitoring in the perioperative period are essential for a safe outcome.
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