My biggest beef with anesthesiologists is that they fail to be physicians first and anesthesiologists second. For those who like to minimize potential medical issues with their patients and hope they don't have any complications, just hope that luck is on your side.
This case delineates what's wrong with us by just wanting to be a technician and not a doctor. Forget that crap about "not being your problem". That is being mediocre and lame at best. Whenever you take that approach, you continue to be more like the competition and less like a physician.
PlanktonMD and VentD are right on. You cannot assume this is some minor issue. If you remember, mitochondrial diseases are inherited from the mother and this case has a big red flag. By doing some minor interventions and referring the patient to the right physician you can save your colleagues some headaches and better yet---potentially save this patient's life.
Here's an article I read that may shed some light on this issue. I did a poster on a case with similar issues and it helped me to understand why being aware of this is important.
http://www.anesthesiology.org/pt/re...wp94JDRTWHVmCnzT8!391776677!181195629!8091!-1
An excerpt:
"Patients with Mitochondrial Cytopathy TOP
The terms mitochondrial myopathy, inherited mitochondrial encephalomyopathy, and mitochondrial cytopathy are generally equivalent. Clinically, they encompass a wide variety of neurologic syndromes, most described only within the past three decades, that are due to errors in the synthesis of mitochondrial proteins caused by defects in nDNA, mtDNA, or mitochondrial transfer RNA (appendix 1).
Symptoms generally reflect inadequate oxidative phosphorylation, usually first apparent in skeletal muscle or in the retina or other parts of the nervous system with high energy requirements.113,114 In addition, inherited or acquired respiratory chain enzymatic deficiencies degrade the efficiency of oxidative phosphorylation and can result in excessive levels of ROS.115
Subclinical hepatic and renal involvement is common, but the diagnosis of a mitochondrial-based respiratory chain deficiency is often not considered unless associated with evidence of skeletal muscle weakness or encephalopathy.
The phenotypic variability of inherited mitochondrial cytopathies reflects the uneven distribution of mutant mtDNA to different tissues during the early phases of embryogenesis.116 Consequently, even when a defined mtDNA mutation is involved, patients with mitochondrial disorders may present with a wide variety of symptoms, many of them extremely vague or subtle.
Mitochondrial cytopathy should be included in the differential diagnosis whenever persistent clinical signs and symptoms include muscle pain in conjunction with weakness or fatigue117 or if there is diffuse involvement of several organ systems that does not conform to an established pattern of conventional disease.114
Because mitochondrial cytopathies involve enzymatic defects that lead to organ dysfunction through impaired oxidative phosphorylation, lactic acidosis and abnormalities in glucose metabolism are common sequelae. The diagnostic algorithm for suspected mitochondrial cytopathy investigations therefore should include screening for measurement of serum and spinal fluid lactate and increased lactate/pyruvate as well as ketone body molar ratios. For pediatric patients, the diagnostic process includes both blood and urine testing, although normal lactate and glucose values do not necessarily rule out the diagnosis of mitochondrial disease. When the index of suspicion for mitochondrial cytopathy is very high in children or in adults, skeletal muscle biopsy can confirm the diagnosis if it reveals the characteristic ragged-red fibers on trichrome stain, which are caused by accumulations of defective mitochondria beneath the sarcolemmal membrane, excess glycogen granules, and cytochrome c oxidase (complex IV) deficient cells.118
Biopsy of muscle or skin can also provide material for mtDNA analysis and facilitate genetic counseling. Syndromes caused by inherited mtDNA point deletions or insertions such as Leber hereditary optic neuropathy or NARP (neuropathy, ataxia, retinitis pigmentosa) can be detected by a polymerase chain reaction blood test and are generally maternally inherited.119 Similarly, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, myoclonus epilepsy and ragged-red fibers, and maternally inherited disorder with adult-onset myopathy and cardiomyopathy, each of which is the consequence of a single transfer RNA missense mutation, also follow maternal inheritance patterns.120 However, Pearson121 and Kearns-Sayre122 syndromes, both produced by a single mtDNA base pair deletion or insertion, have sporadic inheritance patterns.123 Large-scale mtDNA deletions are usually acquired, not inherited, defects.124
Mutations of nDNA that produce unstable mtDNA can produce mitochondrial cytopathy syndromes that are clinically indistinguishable from those associated with classic mtDNA mutations.125,126 One example is an inherited defect in the nuclear gene that encodes for the mitochondrial transcription factor, producing an inevitably fatal mtDNA deficiency syndrome of infancy.127 mtDNA depletion syndrome is a severe disease of childhood characterized by liver failure and neurologic abnormalities due to tissue-specific loss of functional mtDNA. This syndrome is thought to be caused by a putative nuclear gene that controls mtDNA replication or stability.128 Similarly, children with mitochondrial neurogastrointestinal encephalomyopathy may have multiple mtDNA deletions and/or mtDNA depletion that results from an nDNA mutation.129 Regardless of etiology, however, mitochondrial cytopathies of infancy invariably compromise the developing nervous system and are therefore diagnosed early because symptoms are severe and progress rapidly. Nonspecific neurologic signs include lethargy, irritability, hyperactivity, and poor feeding.
Other variants of inherited cytopathy present later in childhood or even in the young and middle adult years. In these syndromes, subclinical decreases in cardiac, skeletal muscle, and nervous system functional reserve probably begin long before the appearance of overt signs or symptoms. Therefore, preoperative assessment of organ system functional reserve such as maximal oxygen uptake is more useful than routine preoperative screening tests in defining the extent to which declining mitochondrial energy production has produced clinical compromise. Patients may ultimately be diagnosed during the evaluation of unexplained muscle weakness, ventilatory failure,130 or even upper airway obstruction.131 Deterioration is gradual but progressive and inevitably leads to incapacitation. Some mtDNA mutations accumulate over time in a single tissue type (e.g., skeletal muscle) where clinical deterioration during adulthood correlates with an increasing fraction of mutant mtDNA.132 In fact, in patients with skeletal muscle mtDNA mutations, the mutation load determines the extent of metabolic impairment and therefore the degree of exercise intolerance as indicated clinically by a reduced rate of muscle oxygen extraction in the face of exaggerated cardiopulmonary responses.133 Measurement of venous oxygen partial pressure during forearm exercise may therefore be of value, at least in adults, to assess the severity of aerobic compromise due to mitochondrial dysfunction.134 Nevertheless, the true incidence of these later-onset syndromes is unclear because of their insidious onset and the diversity of organ systems involved.135,136 "
