Case Report on Ataxia Telangectasia (AT) is a rare autosomal recessive genetic disease

INTRODUCTION
Ataxia Telangectasia (AT) is a rare autosomal recessive genetic disease resulting a progressive multi-system degeneration and characteristic findings of cerebellar ataxia, immunodeficiency, sino-pulmonary infections, interstitial lung disease and malignancy. High serum α-fetoprotein levels, retardation of somatic growth, gonadal dysgenesis and defective cell cycle checkpoints are also found.This disorder occurs world-wide, with an incidence of 1:40,000 to 1:100,000 of live births.
CASE REPORT
We report on a 12 year old , 17 kg , boy becoming difficulty on swallowing problem. Because of this problem it was planned lower cervical pre tracheal lymph node biopsy + feeding gastrostomy by thoracic unit. He was born at term from non consanguinity healthy parents.
The boy was k/c/o Ataxia Telangiectasia at PAC. His parents presented with the complain of his difficulty on swallowing for last 3-4 months. He also had shortness of breath on exertion and recent chest infection history. He had no any past anaesthetic exposure history.
On physical examination , boy was thin built, malnourished with BMI 10.38 , mental and growth retardation. Bilateral ocular telangiectasia and muscular dystrophy were noticed. Chest auscultation showed bilateral decreased air entry with wheezes on left lung.
On neurological examination, choreoathetotic movement and dysarthria was noted.
On airway examination, mallampati score was III , teeth were malformed and bucked high arched palate suggesting of difficulty intubation.
On laboratory examination, (AFP)alpha feto protein was 232 IU/ML. Haematological and biochemical laboratory findings were normal.
Chest x-ray showed hyper-inflated lungs filed with mediastinal mass. CT Scan of Chest . large heterogeneously significant enhancing mediastinal mass was noted . MRI brain showed poorly formed Hippocompal gyri.
He was monitorized and pulse oximetry , blood pressure and electrocardiogram data were observed 20G IV cannula was opened on RHS. He was pre-medicated with 2 mg midazolam and 0.2mg glycopyrolate. Arterial line was opened on RHS with 20G cannula. Fentanyl 50mg was given for analgesia  .He was induced with propofol 60mg and 4% sevoflurane. Muscle relaxation was obtained with IV vecuronium 3mg and intubated with No. 6 cuffed Endotracheal tube. Anaesthesia with maintained with 1.5% sevoflurane and 100% O2. Patient suddenly develop Bronchospasm after 10 minutes of intubation and was relived with in few seconds by sustained positive pressure ventilation. At that time , oxygen saturation dropped to 88% . Serum glucose was tested after 30 minutes of anaesthesia and was recorded to be 91mg/dl . Hemodynamic parameters were stable during anaesthesia and no other significant events occurred preoperative and post operative period. Anaesthesia lasted for 1 hour and 45 minutes. The patient was reversed with Neostigmine 1 mg and glycoprotein 0.2 .Awake extubation was done at OT and patient shifted to recovery room and then to ICU.
DISCUSSION
There has been scanty evidence to date on the risks posed by this very rare condition and precautions have advised ensuring a full evaluation of the various bodily systems prior to anaesthesia:
 

  • Neurological, in particular assessing cerebellar and bulbar function

 

  • Respiratory and cardiovascular in light of chronic lung disease and also the effects of increased pulmonary vascular resistance on cardiac function

 

  • Haematological, looking for malignancies resulting in pancytopaenia and necessitating

transfusion of blood and platelets pre-operatively
 
Patients are at increased risk of aspiration due to the neurological sequelae of the disease, and some may require post-operative ventilation/ ventilatory support. They are also thought to be at risk of glucose intolerance and peri-operative serum glucose can be elevated. In view of the likelihood of immunodeficiency, good aseptic technique throughout the peri-operative period is obligatory. It is also wise to be judicious in the use of muscle relaxants in the presence of progressive neurological disease. Use of succinylcholine may cause hyperkalaemia in patients with significantneuropathy and muscle weakness. A recent article by a group from The John Hopkins Hospital,Baltimore13reviewed records on 21patients with A-T, undergoing 34 episodes of general anaesthesia for a  total of 41 procedures over a 15 year period (1995-2009). This is thought to be the largest published series to date. They found that patients can be anaesthetised with a risk comparable to that for other medically complex
paediatric patients.
Conclusions: Though medically complex, patients with AT appear to undergo anesthesia with minimal complications. The majority of “in-patient” procedures are related to co-morbid conditions of infection and malignancy. All patients shouldbe  seen in a multidisciplinary care centre, including respiratory,neurology and immunology specialists, allowing for disease-specific peri-operative optimization and post-operative follow-up.
 
References :

  • October 2014 by the Ataxia-Telangiectasia Society atsociety.org.uk
  • Şahin M. Anesthetic Management of a child with ataxia telangiectasia. Case Study and Case Report 2013; 3(3): 130 – 132.
  • Anesthetic management and Peri-operative implications of Ataxia-Telangectasia Authors: Andrew J. Iskander, MD, The Johns Hopkins Hospital, Baltimore, MD

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