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Anesthetic management for a patient with Jansky-Bielschowsky disease

[L'anesthésie d'une patiente atteinte d'idiotie amaurotique de type Bielschowsky]

From the Department of Anesthesiology, Shimane Medical University, Izumo, Japan.

Address correspondence to: Dr. Katsushi Doi, Department of Anesthesiology, Shimane Medical University, 89-1 Enya-cho, Izumo, 693-8501, Japan. Phone: +81-853-20-2295; Fax: +81-853-20-2292; E-mail: kdoi{at}shimane-med.ac.jp

	Abstract

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Purpose: To describe the anesthetic management of a patient with Jansky-Bielschowsky disease (JBD), the late infantile form of neuronal ceroid lipofuscinosis, characterized by dementia, severe and drug resistant grand mal, myoclonic seizures, and blindness.

Clinical features: A 14-yr-old girl with JBD was scheduled for resection of a gingival tumour and an infected sinus in the sacral area. Her preanesthetic examination revealed extreme muscle atrophy and dementia. Grand mal, myoclonic seizures, and upper airway obstruction were frequent. Following iv induction with thiamylal, anesthesia was maintained with sevoflurane, N₂O and O₂. Her trachea was intubated without using muscle relaxants. Muscle relaxants were not used during the operation. Apart from an intractable hypothermia, the intraoperative course was uneventful. The emergence of anesthesia was smooth, except for persisting seizures.

Conclusion: General anesthesia using thiamylal and sevoflurane provided satisfactory conditions during operation in a patient with JBD. Intraoperative hypothermia required particular attention.

	Introduction

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JANSKY-BIELSCHOWSKY disease (JBD) is the late infantile form of neuronal ceroid lipofuscinosis (NCL). NCL is a rare disease and due probably to an enzyme defect or deficiency, leading to accumulation of fluorescent waxy pigments within cells of several different tissues including the central nervous system.¹ The global incidence of NCL was reported as one in 12,500.² No difference was reported in the incidence between Japanese and Caucasian.³ JBD typically makes its appearance between the ages of two and four years and is progressively fatal by age ten in most cases. Clinical features are dementia, severe and drug resistant grand mal, myoclonic seizures, and blindness, all of which seem to pose a challenge for the anesthesiologist. To our best knowledge, however, there is limited information available on the anesthetic management of a patient with NCL.⁴ We report the successful management of anesthesia for a patient with JBD.

	Case report

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A 14-yr-old girl with JBD, weighing 28.7 kg, was scheduled for resection of a gingival tumour and an infected sinus in the sacral area. At the age of two years, she began to show signs of growth retardation. The myoclonic seizures and abnormal activity on the electroencephalogram became apparent two years later. By the age of five years she could not ambulate and visual acuity was severely impaired. The gingival tumour, originating from the mandibular mucosa, was first recognized at the age of seven and enlarged gradually. The sacral sinus had recurrent infection. On the interview, intellectual disability was present. She responded to painful stimulation but not to verbal command. She was blind and light reflex was absent. Because of extreme physical deformity and muscle atrophy, she had been bedridden. Although she was taking valproic acid, clonazepam and diazepam, the grand mal and the myoclonic seizures persisted. The frequency of the seizures was about five to six times per day. Upper airway obstruction was common due to the gingival tumour and large amounts of secretions. Her vital signs, electrocardiography (ECG), and laboratory data were normal. Chest x-ray revealed severe scoliosis. Her family history revealed that her sister had the same disease.

The patient took valproic acid 760 mg, clonazepam 0.1 mg, and diazepam 2 mg orally until two hours before the operation. After atropine 0.25 mg iv, anesthesia was induced with thiamylal 100 mg iv, followed by sevoflurane via facemask. Her trachea was intubated without using muscle relaxants. A reinforced 6.0-mm endotracheal cuffed tube was used in this case. Anesthesia was maintained with 66% nitrous oxide and 1–3% sevoflurane in oxygen. Muscle relaxants were not used during the operation. She was ventilated mechanically during surgery. End-tidal concentrations of carbon dioxide, nitrous oxide and sevoflurane were monitored by a Datex Capnomac Ultima (Helsinki, Finland). Body temperature was monitored with a rectal thermometer. Her baseline temperature was 36.5°C at the start of the operation. Although intraoperative hemodynamics remained stable, the patient developed hypothermia after being placed in the prone position. Two hours after the start of the operation, her rectal temperature dropped to 34.5°C. The hypothermia persisted throughout surgery despite attempts at rewarming with a humidifier, fluid warmer and circulating-water-mattress. After surgery, we used a forced-air warmer for 90 min. She emerged from anesthesia smoothly after normalization of body temperature. Duration of surgery and anesthesia was five hours and 25 min and eight hours and 15 min, respectively. Although severe myoclonus was observed, her respiratory and circulatory conditions remained stable. Myoclonus was controlled using diazepam 2 mg intravenously. The postoperative course was otherwise uneventful, and neurological symptoms were not exacerbated after the operation.

	Discussion

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NCL is classified into four main forms according to the age at onset; infantile, late infantile (JBD), juvenile, and adult.¹ We know of one case report describing the anesthetic management of a patient with NCL.⁴ In this report, a 38-yr-old man with Kuf's disease, the adult form of NCL, underwent exploratory celiotomy under general anesthesia using isoflurane. Muscle relaxants, such as d-tubocurarine, succinylcholine, and vecuronium were used for tracheal intubation and muscle relaxation during surgery. Intra- and postoperative course were uneventful except for a slow emergence from general anesthesia. Thus, we anticipated possible problems during the management of anesthesia in our patient.

First, the use of muscle relaxants can be a problem, because muscle abnormality involves amyotrophy and myotony.⁵ We did not use muscle relaxants for endotracheal intubation to prevent any associated problems, including prolonged effect of the drugs. Moreover, sevoflurane can provide sufficient muscle relaxation to facilitate tracheal intubation^6,7 and the surgical procedure did not require further muscle relaxation in this case. If a muscle relaxant had been required in this patient, a short-acting nondepolarizing muscle relaxant should be used and titrated carefully. Succinylcholine should be avoided because of possible hyperkalemia and malignant hyperthermia in patients with neuromuscular disorders.⁵

Second, the risk of exacerbating neurological symptoms was a consideration that oriented our choice of anesthetic agents. The patient had taken several types of anticonvulsants. The mechanisms of action of these anticonvulsants may involve drug-induced increases in the activity of inhibitory neurotransmitters such as GABA.⁸ We used titrated doses of thiamylal for induction, because thiamylal is known to share the same mechanism of action with these anticonvulsants. In addition, thiamylal has a rapid onset and short duration of action.⁹ Sevoflurane was selected because of its low blood gas partition coefficient and anticonvulsive action at low concentrations,^6,10 an interesting characteristic in this patient. Although sevoflurane has been implicated in causing seizure-like activity,^11,12 other inhalation anesthetics, including isoflurane, can also trigger spike wave activity in the electroencephalogram and convulsion.¹³ Interestingly, these inhalational anesthetics have also anticonvulsive action when used at a low concentration.

Third, in patients with complex abnormalities of respiratory function due to scoliosis, the risk of perioperative respiratory complications is increased. Further, airway obstruction secondary to kinking of the endotracheal tube in patients with scoliosis may occur.¹⁴ Clearing airway secretions is difficult and lung volumes are reduced in such patients.¹⁵ When a patient has a swallowing disorder leading to recurrent aspiration, aspiration of oral secretions should be presented. To prevent aspiration, premedication with H₂ receptor antagonists and atropine is recommended.

Moreover, JBD may present autonomic nerve dysfunction, including abnormalities of thermal regulation, in addition to several metabolic disorders. It has been shown that the normal body temperature rhythm is disturbed in about half of patients with NCL.¹⁶ The persistent hypothermia observed in this patient may have been due to an abnormality of thermal regulation. Special attention to the prevention and treatment of hypothermia appears essential in a patient with JBD.

In summary, general anesthesia using thiamylal and sevoflurane provided satisfactory anesthetic and operative conditions in a patient with JBD. Intraoperative hypothermia required particular attention.

Revision received September 17, 2001. Accepted for publication March 26, 2001.

	References

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