|Year : 2018 | Volume
| Issue : 2 | Page : 99-101
Anesthetic management of a child with homocystinuria
Chaitanya A Kamat, Manjunath C Patil, Guruprasad Shetty, Akshata Aravind Kulkarni
Department of Anaesthesiology, JNMC, KAHER, Belagavi, Karnataka, India
|Date of Web Publication||10-Dec-2018|
Akshata Aravind Kulkarni
Department of Anaesthesiology, JNMC, KAHER, Belagavi, Karnataka
Source of Support: None, Conflict of Interest: None
Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites in blood and urine. It is most often diagnosed in childhood and has variable expressions. We report a case of a 7-year-old male child with diminished vision since birth diagnosed as bilateral congenital cataract and superomedial subluxation of lens posted for cataract excision under general anesthesia. The key points of perioperative management included prevention of hypoglycemia, optimal hydration, prevention of thromboembolic episodes, and total intravenous anesthesia.
Keywords: General anesthesia, homocystinuria, pediatric anesthesia, total intravenous anesthesia
|How to cite this article:|
Kamat CA, Patil MC, Shetty G, Kulkarni AA. Anesthetic management of a child with homocystinuria. J Sci Soc 2018;45:99-101
| Introduction|| |
Classical homocystinuria, also known as cystathionine beta-synthase (CBS) deficiency, is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of CBS. It is an inherited autosomal recessive trait, requiring a child to inherit a copy of the defective gene from both parents. It can also be acquired with a deficiency of B6, B12, or folate. The worldwide clinical prevalence of this disease is 1/300,000.
Homocystinuria is caused by a defect in methionine metabolism, leading to the accumulation of homocysteine. High levels of plasma homocysteine are associated with vascular injury through oxidative damage, vascular smooth muscle proliferation, promotion of platelet activation and aggregation, and disruption of normal procoagulant–anticoagulant balance favoring thrombosis.
| Case Report|| |
A 7-year-old male patient presented to the ophthalmic outpatient department with complaints of diminished vision since birth. On examination, he was found to have bilateral congenital cataract and supranasal subluxation of the lens in the left eye. Further investigations revealed a high level of homocysteine (180 mmol/L, normal range 5–10 mmol/L) in his serum and a diagnosis of homocystinuria was reached.
Preanesthetic evaluation revealed that he was delivered through a full-term normal delivery and the perinatal period was uneventful. He was vaccinated according to the National Immunization Schedule, and all developmental milestones were achieved at acceptable times.
The child weighed 20.4 kg, was 122 cm tall, and was conscious, cooperative, and well oriented to time, place, and person. There was no pallor, cyanosis, clubbing, icterus, lymphadenopathy, or pedal edema. There were no murmurs heard and the examination of respiratory system revealed no abnormalities. Perabdomen examination revealed a soft, nontender abdomen with no organomegaly. The child did not have hyperflexibility of the fingers or high-arched palate. The spine was normal. Airway examination showed deciduous teeth along with permanent incisors and adequate mouth opening with MP Grade II, and jaw movements were adequate. A chest X-ray posteroanterior view and a two-dimensional echocardiography were one to rule out any cardiovascular manifestations and were found to be within normal limits.
The child was kept fasting for 6 h for solids and 4 h for clear fluids. Serum homocysteine levels on the day of surgery were 18.92 mmol/L and random blood sugar (RBS) was 112 mg/dL. Coagulation profile was within normal limits. The child was premedicated with syrup midazolam 5 mg/kg. A peripheral intravenous (IV) line 22G was secured in the preoperative holding area, and an infusion of Ringer's lactate was started.
The patient was shifted to the operating room, and all standard monitors, i.e., pulse oximetry, electrocardiography, and noninvasive blood pressure, were attached and the baseline vitals were noted. Injection glycopyrrolate 0.005 mg/kg and injection fentanyl 2 mcg/kg were given IV. Anesthesia was induced with injection propofol 2 mg/kg IV. Endotracheal intubation was done with 5.0 ID-cuffed endotracheal tube after achieving muscle relaxation with injection atracurium 0.5 mg/kg. Adequate IV fluids were infused according to Holliday Segar's calculation of fluids. Anesthesia was maintained with oxygen, air, and atracurium. Nitrous oxide was avoided. Intraoperatively, passive leg raising and intermittent massages were done to prevent thromboembolism. The intraoperative period was uneventful, and the child was extubated after thorough oral suctioning and adequate reversal of neuromuscular blockade with injection neostigmine 0.05 mg/kg IV and injection glycopyrrolate 0.008 mg/kg body weight. The recovery was smooth and uncomplicated. The child resumed oral fluids 4 h postsurgery.
The child was discharged from the hospital on the postoperative day 3.
| Discussion|| |
Homocystinuria is an inherited autosomal disorder caused by a deficiency of CBS which leads to a defect in the methionine metabolism in the transsulfuration pathway. The conversion of homocysteine to cystathionine is hampered and leads to accumulation of homocysteine and methionine. Biochemical profile of these patients usually reveals hyperhomocysteinemia, methioninemia, and low plasma levels of cysteine and cystathionine. Abnormal accumulation of both methionine and homocysteine in various tissues is noted.
It is a connective tissue disorder involving multiple organ systems such as central nervous system, cardiovascular system, connective tissues, and musculoskeletal system. High myopia and ectopia lentis are the most common manifestations of the disease, and often, the children are diagnosed with this metabolic disorders with these ophthalmic presenting complaints. The long spider-like digits, hyperflexibility of joints, and a general Marfanoid habitus may be noticed as the child grows.
The major anesthetic considerations in a patient with homocystinuria are:
- Prevention of thromboembolism 
- Perioperative glycemic monitoring 
- Avoidance of nitrous oxide.
Patients with homocystinuria are at a higher risk of thromboembolic episodes due to enhanced activity of certain coagulation factors (V and XII), increased blood viscosity, and increased platelet adherence. The risk can be reduced by dietary control of serum methionine and homocysteine, administration of drugs such as aspirin and adequate perioperative hydration. Intraoperatively, maintenance of adequate cardiac output and pneumatic stockings are helpful. Early ambulation in the postoperative period is of utmost importance.
Increased methionine leads to increased insulin release which leads to hypoglycemia. Stringent monitoring in the perioperative period and infusion of dextrose-containing IV fluids help to avert complications. Nitrous oxide increases the blood homocysteine levels by inhibiting the methionine synthase enzyme. Therefore, nitrous oxide should be excluded from the anesthetic plan of a patient with homocystinuria.
| Conclusion|| |
Hazards relating to general anesthesia in a patient with homocystinuria can be avoided by careful consideration for the pathophysiology of the disease and providing total IV anesthesia with alert and skillful monitoring to prevent hypoglycemic and thromboembolic events.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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