|LETTER TO EDITOR
|Year : 2012 | Volume
| Issue : 2 | Page : 203-205
Our experiences in a patient with Progeria syndrome
MM Neema, Abhay Kumar Babar, Priyanka Sharma, Aditya Tewari
Department of Anaesthesiology, R. D. Gardi Medical College, Ujjain, Madhya Pradesh, India
|Date of Web Publication||17-May-2012|
Abhay Kumar Babar
151, Shri Nagar Colony Main, Indore, Madhya Pradesh - 452 016
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Neema M M, Babar AK, Sharma P, Tewari A. Our experiences in a patient with Progeria syndrome. Indian J Anaesth 2012;56:203-5
A 22-year-old male patient weighing 22 kg with height 140 cm was scheduled for internal fixation of the right forearm bones. He was diagnosed as having Progeria earlier when he underwent cataract surgery 6 years back.
Pre-anaesthetic evaluation was done. On history taking, it was found that he was normal at birth but he failed to thrive. He received multiple transfusions for recurring anaemia. He was the only child in his family who suffered from Progeria.
On general examination, the patient was alert and attentive. The face showed a large head, absent outer eyebrows with pale conjunctiva and no icterus. Teeth were widely spaced with decay and the nose was small with depressed bridge and small nares. Mandible and maxilla appeared normal. Skin was dry and wrinkled with reduced subcutaneous fat as usually seen in the elderly. The clavicle was slightly raised with littile webbing of the neck. The chest was pigeon shaped with a distended abdomen and thin extremities.
Systemic examination revealed chest and neck deformity. Liver and spleen were palpable. The patient had stiff joints. Airway assessment was Mallampati grade II. Peripheral smear examination revealed morphological abnormalities of Red blood corpuscles and haemoglobin electrophoresis showed very high foetal haemoglobin (15.7%). Electrocardiograph (ECG) was abnormal and showed ST-T changes with depressed T wave in II, III, AVF V2 to V5 leads. Liver function tests showed high serum bilirubin of 2.5 mg% (direct 1.8 mg, indirect 0.2 mg and delta bilirubin 0.4 mg), serum proteins were raised (10.9 gm/dL), albumin was 5.3 gm/ dL and globulin was 5.6 gm/dL. Serum glutamate oxalate transferase and serum glutamate pyruvate transferase were normal. His blood glucose, urine analysis and serum creatinine were normal. Echocardiography and carotid Doppler studies were normal. Radiological and imaging studies revealed widening of the mediastinum and raised domes of diaphragm. X-ray of wrist showed open epiphysis of radius, suggesting age below 18 years. Ultrasonography showed enlarged liver and spleen with portal hypertension. Intelligence Quotient was 82 on psychological evaluation.
Pre-operative severe anaemia was corrected with pre-operative whole blood transfusions. In the operating room, an intravenous line was secured and a Ringer lactate infusion was started, essential monitoring equipments were connected and preparedness for difficult intubation was ensured. The patient was pre-medicated with 0.1 mg glycopyrrolate and 1 mg midazolam given intravenously. It was ascertained that bag and mask ventilation is not difficult. After pre-oxygenation, anaesthesia was induced with inj. Propofol 50 mg and Succinyl choline chloride 50 mg IV and the trachea intubated with cuffed endotracheal tube 6.5 mm ID without difficulty in first attempt. Anaesthesia was maintained with Nitrous oxide and Oxygen in 50:50 ratio with controlled breathing on Bain circuit and 0.6% Isoflurane was added to the gas mixture. Intravenous Inj. Atracurium 12.5 mg was injected to facilitate ventilation and injection Pentazocine 12 mg was administered for intra-operative analgesia. Surgery lasted for 75 min and neuromuscular block was reversed with inj. Neostigmine 1.5 mg and Glycopyrrolate 0.2 mg. On appearance of adequate respiratory efforts, the patient was extubated. Recovery from anaesthesia was not delayed. Post-operative analgesia was provided with Injection Pentazocin 15 mg given IM. The patient was given oxygen at 4 L/min with a ventimask in the recovery room.
The patient was observed for 30 min and was shifted to the ward with stable vital signs.
During the entire perioperative period, ECG, pulse rate, blood pressure and SpO 2 were monitored, and were found to be unremarkable. The entire post-operative period was uneventful till discharge.
Progeria is an extremely rare congenital disorder (reported incidence 1 in 4-8 million), presenting with signs and symptoms of accelerated ageing. Major concerns for the anaesthesiologist are difficult venous access and airway, association with ischaemic heart disease and cerebral insufficiency. A case of difficult intubation even with fibreoptic laryngoscope has been reported in the literature.  Use of propofol has been reported to cause "propofol infusion syndrome", resulting in lipaemia. 
Huge hepatosplenomegaly and haemoglobinopathy (persistence of foetal haemoglobin 15.7%) was seen in our patient. The association of persistence of foetal haemoglobin with Progeria could not be found in the literature, and needs genetic work-up to explain.
Options of brachial plexus block and Bier's block were deferred for obvious chest and neck deformities. Balanced anaesthesia and controlled ventilation were considered as safer alternatives, and we did not face any complications in the entire perioperative period.
| References|| |
|1.||Sing KV, Patil Y, Dave S, Dewoolkar LV. Anesthesia management of a known case of Progeria for Functional Endoscopic sinus Surgery. Internet J Anesthesiol 2007;12:2. |
|2.||Hermanns H, Lipfert P, Ladda S, Stevens MF. Propofol infusion syndrome during anesthesia for scoliosis in an adolescent with neonatal progeroid syndrome. Acta Anesthsiol Scand 2006;50:392-4. |