Anesthetic Considerations for Menkes Kinky Hair Syndrome
Thomas B. Johnson, RN, BSN, SRNA
Louisiana State University Health Sciences Center
Introduction
The purpose of this report is to discuss the characteristics of a Menkes Kinky Hair
Syndrome patient, and anesthetic considerations that an anesthesia professional must consider.
This report is important to the reader based on the following: Menkes Kinky Hair (MKH)
syndrome occurs once in every 100,000 to 300,000 births,3 and MKH patients tend to have
several surgeries in their short life in order to optimize quality of life as much as possible.
Despite the many limitations of MKH patients, they tend to tolerate surgery well, but precautions
and preparation are necessary in order to prevent complications.
Case Report
The patient was an 8 month, 7.5 kilogram, 26 inch long, male scheduled for a
tracheostomy. Several previous hospitalizations since birth had been noted for repeated
respiratory infections and treatment of MKH. The patient was admitted respiratory distress
syndrome and underlying pneumonia. Antibiotic therapy had been instituted, and the patient had
been unable to maintain adequate ventilation when previous extubations had been performed,
thus the patient remained intubated and mechanically ventilated. No previous surgical history or
allergies were noted.
No significant cardiovascular history was noted, but the patient was mechanically
ventilated via an endotracheal tube. Bilateral scattered rhonchi were noted on auscultation, and
the chest x-ray showed right lower lobe infiltrates. Severe motor developmental delays were
noted with a seizure history that had been medically treated with dilantin. The dilantin level was
therapeutic. Metaclopramide and famotidine had been administered since admission, with a
history of gastrointestinal reflux noted since birth. The patient had been receiving nutrition via an
oral feeding tube, which was stopped the night before. Intravenous fluid administration was
initiated in the absence of oral intake. Copper histidinate was being administered subcutaneously.
The general appearance of the child was that of pale skin, rosy cheeks, and characteristic friable,
light-colored kinky hair.
Case Conduct
Before the patient entered the operating room, the temperature in the room was raised and
warm blankets were applied to the operating room bed. A fluid warmer was also prepared.
After receiving 25 mcg of Fentanyl, the patient was induced with a 40 mg of sodium thiopental,
followed by 5 mg of rocuronium. Pressure controlled ventilation was established and
Sevoflurane 2% was initiated. The patient was positioned and stimulating electrodes were
placed over the facial nerve to monitor the effects of neuromuscular blockade. A subsequent
dose of 10 mcg of Fentanyl was given during the case. Neuromuscular blocking was
antagonized with Neostigmine and glycopyrrolate. The surgical and anesthetic course was
uneventful and the patient was transferred back to PICU.
Discussion
Menkes Kinky Hair disease is also known as Steely hair or Kinky hair disease. MKH is a
genetic X-linked recessive disorder resulting in improper copper metabolism that is characterized
by degeneration of the CNS gray matter with distinctive facies, hair, and neurological
deterioration.3
Menkes Kinky Hair syndrome is a severe dysfunction in copper-dependent enzyme
systems. Copper dependent enzyme systems include: lysyl oxidase, which is responsible for
intimal cleavage of vessels; tyrosinase, which is responsible for pigmentation of hair and skin;
monamide oxidase, where a deficiency results in the characteristic kinky hair; cytochrome
oxidase, where a deficiency results in hypothermia; and ascorbate oxidase, where a deficiency
results in skeletal deformities. In MKH disease, dietary copper is not absorbed from the
intestinal cells, resulting in low serum levels of copper. Copper substitutes, such as copper
histidinate, will be started as soon as possible in hopes of interrupting the progression of
neurological manifestations, but high copper serum levels can result in nephrotoxicity.4
With a history of seizure activity, sodium thiopental is important in increasing the seizure
threshold. Abnormal motor responses, such as decreased coordination and, most importantly,
truncal hypotonia, may make dosing of neuromuscular blockers and antagonism of
neuromuscular blockade agents a significant problem.3 Peripheral nerve monitoring and
administration of decreased doses of neuromuscular blockers are important in patients with
hypotonia. To exacerbate the problem, extremity hypertonia3 is noted in MKH patients and the
effects on a train-of-four with a peripheral nerve stimulator in measuring neuromuscular
blockade is undocumented.
Vascular effects of MKH are widespread resulting in torsion of vessels, specifically
cerebral vessels, making a preoperative and post operative neurological assessment a necessity.
The extreme torsion of vessels within the cerebral circulation puts MKH patients at risk for
possible aneurysm development. 1 Therefore, hypertensive episodes must be avoided. Due to
the extensive vascular involvement, intravenous access can be a challenge.
Maintaining cerebral perfusion pressure and preventing hypercarbia and hypoxia are also
of great importance. Important considerations in maintaining cerebral perfusion pressure is to
ensure that an adequate fluid balance is calculated and delivered, and that the mean arterial blood
pressure is maintained above 50 mm Hg. 6 Thiopental is the induction agent of choice because it
constricts cerebral vasculature and induces a decline in cerebral oxygen consumption, thus
protecting the brain from episodes of focal ischemia. 5
Hypothermia, hypoglycemia, and autonomic instabilities may result from lack of
circulating norepinephrine and selective loss of sympathetic adrenergic function. 3 Readily
available direct acting sympathomimetics are necessary to combat the falls in blood pressure and
compensate for the lack of circulating catecholamines. Monitoring of serum glucose levels is
important throughout the perioperative and postoperative period. Warming the operating room,
including the table, and forced warm air blankets are necessary because MKH patients are prone
to hypothermia.
Gastroesophageal reflux is a common finding in MKH patients, and gastric tubes are
frequently required. 2 Rapid sequence inductions with cricoid pressure and pretreatment with
metoclopramide, famotidine, and sodium citrate will be warranted.
Conclusion
MKH presents with varying degrees of severity that is noted to gradually worsen with
age. Additionally, these patients undergo anesthesia frequently for varying medical procedures.
The best way to proceed when faced with procedures on children with MKH is to become
educated with all the possible complications and anesthetic implications.
References
1.
Jacobs, D. S., Smith, A. S., Finelli, D. A., Lanzieri, C. F., & Wiznitzer, M. (1993).
Menkes kinky hair disease: characteristic MR angiographic findings. American Journal of
Neuroradiology, 14 (September/October), 1160-1162.
2.
Kaler, S. EMedicine. Menkes Kinky Hair Disease. 2002. Available at:
http://www.emedicine.com/ped/topic1417.htm. Accessed September 14, 2002
3.
Martin, L. A., McNemar, A., & O’Brien, E. L. (1994). Menkes kinky hair disease.
Maternal Child Nursing, 19 (May-June), 162-164.
4.
Menkes kinky hair syndrome. (1998). Pediatric Dermatology, 15(2), 138-139.
5.
Morgan, G., Mikhail, M., & Murray, M. (2002). Clinical Anesthesia (3rd ed.). New York,
NY: McGraw Hill.
6.
Newfield, P., & Cottrell, J. E. (1999). Handbook of Neuroanesthesia (3rd ed.).
Philadelphia, PA: Lippincott Williams & Wilkins.