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Central core disease and malignant hyperthermia syndrome.

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Central Core Disease
and Malignant Hyperthermia Syndrome
John P. Frank, MD, Yadollah Harati, MD, Ian J. Butler, MB, FRACP,
Thomas E. Nelson, PhD, and Charles I. Scott, M D
~
~
In a detailed investigation of a family with musculoskeletal abnormalities observed in four generations, the proband and his mother were found to have central cores and multicores on histochemical and electron microscopic
studies of biopsied muscle. A male sibling experienced a malignant hyperthermic reaction during hand surgery,
and although similar reactions had not been observed in other family members, unexplained ventricular dysrhythmias did occur in the proband during surgery. The proband and his mother were subsequently shown to be
susceptible to malignant hyperthermia by abnormal in vitro muscle contractures in the presence of halothane or
caffeine.
Physicians and dentists caring for patients with central core disease should be aware of its possible association
with malignant hyperthermia. Complete evaluation of patients with central core disease should include in vitro
muscle contracture studies for malignant hyperthermia since many of these patients require surgery for musculoskeletal defects.
Frank JP, Harati Y , Butler IJ, et al: Central core disease and malignant
hyperthermia syndrome. Ann Neurol 7:ll-17, 1980
The malignant hyperthermia (MH) syndrome is an
autosomal dominantly inherited disorder of muscle
in which individuals may have musculoskeletal defects. The reaction is usually triggered by anesthetic
agents and has a mortality rate greater than 60% [ 5 ] .
Clinical manifestations include increased muscle
tone, tachycardia with dysrhythmias, hyperpnea,
cyanosis, diaphoresis, an elevation in body temperature, and a markedly accelerated metabolic rate with
acidosis and electrolyte imbalance.
Central core disease (CCD) o r central core
myopathy, initially described in 1956 [14, 351, is a
dominantly inherited, usually nonprogressive neuromuscular disorder of mild to moderate severity.
Central cores are areas in muscle fibers devoid of oxidative and phosphorylase enzymes with virtual absence of mitochondria 1111.
The dominant inheritance of MH has been known
since Denborough et a1 [9, 101 described a family in
which 10 anesthetic deaths occurred from MH reactions. However, the association of CCD and M H was
not made until Denborough, Dennett, and Anderson
[7] later demonstrated C C D in the aunt of the proband in their original family. A family study, previously reported in abstract form [15], is presented in
which the diagnosis of C C D was made in the proband, a nonfatal MH reaction occurred at age 5 years
in a brother, and the proband and mother were
shown to be susceptible to MH. This study emphasizes the clinical importance of this rare association and the need for identification of individuals
with C C D who are susceptible to M H reactions.
From the Departments of Pediatrics and Neurology, The University Of Texas
at Houston, the Department Of
rology, Baylor College of Medicine, Houston, and the Department of Anesthesia, The University of Texas Medical Branch at
Galveston, Galveston, TX.
Accepted for publication May 6, 1979.
Case Reports
The pedigree of the SL family is shown in Figure 1. The
proband (V-I) was a 7-year-old white boy evaluated for
foot deformities, weakness of the lower extremities, and
aching in leg muscles unassociated with activity. When he
was 3 months old his mother could twist his feet posteriorly
180 degrees, though she did not consider him unduly
floppy. He sat at 11 months and walked at 2 years, at which
time he was treated with a Denis Browne bar for vertical
talus. Later he was placed in wedged shoes and twister
cables for two years. At age 4 he had general anesthesia for
an adenoidectomy and bilateral myringotomies. Repeat
myringotomies and Grice extraarticular arthrodeses for
heel valgus and pes planus were performed at age 5 years.
Under ketamine anesthesia, a myelogram was done at age 5
because of decreased reflexes and muscle weakness in the
lower extremities. Surgical procedures were performed
without incident until, at age 7 years, while he was having a
tonsillectomy and bilateral myringotomies, unexplained
ventricular tachycardia with multifocal premature ventricular contractions occurred. Lidocaine, which is contraindicated in MH-susceptible patients [ 31, was administered
intravenously. Anesthesia had included nitrous oxide and
Address reprint requests to D r Butler, Department of Neurology,
The University of T~~~~Medical School at Houston, p o B~~
20708, Houston, TX 77025,
0364-5134/80/010011-07$01.25 @ 1079 by Ian J. Butler
11
I
halothane but no succinylcholine. There was no fever o r
muscle rigidity, and the mother was warned about cardiac
dysrhythmias during anesthesia in the future.
O n examination the head circumference was 54.2 cm
(98th percentile); the height, 120.7 cm, and weight, 20.4
kg, were at the 25th percentile. H e was a thin boy who was
awkward and clumsy when running or walking down stairs.
Examination of the musculoskeletal system revealed a high
palate, mild camptodactyly of the third, fourth, and fifth
fingers at the proximal interphalangeal (PIP) joints, .mild
genu varum, winged scapulae, and thoracolumbar scoliosis
with increased lordosis. Gowers' sign indicated proximal
muscle weakness, and deep tendon reflexes were mildly
depressed and equal.
Cerebrospinal fluid protein, complete blood count,
serum aldolase, serum glutamic pyruvic transaminase,
nerve conduction studies, electromyography, and an electrocardiogram were all normal. Creatine phosphokinase
(CPK) values were 116, 128, and 194 IU per liter (normal,
8 to 132), and lactic acid dehydrogenase was 214 IU per
liter (normal, 83 to 1 5 7 ) with normal isoenzymes. A roentgenogram revealed mild scoliosis.
The mother of the proband (IV-2) complained of having
pain in her calf muscles and muscle weakness with fasciculations during exercise since adolescence. She has mild
bilateral ptosis, a high-arched palate, increased lumbar lordosis, scoliosis, fifth finger camptodactyly, and difficulty rising from the squatting position. An ischemic lactate tolerance test was normal, but during the test she complained
of marked muscle cramping. CPK values were 141 and 212
IU per liter. She has undergone one operation without
incident; an elective hysterectomy was postponed because
of the positive in vitro muscle contracture studies for MH
susceptibility.
A brother (V-2) of the proband was noted at age 4 years
to have scoliosis, increased thoracolumbar lordosis, PIP
camptodactyly of the fifth finger, barrel-shaped chest, generalized weakness, awkwardness in running and walking
upstairs, and a positive Gowers' sign. Gross motor development was normal. Roentgenograms revealed progressive thoracolumbar scoliosis and hypoplastic neural arches of
the T12, L1, L5. and S1 vertebrae with a spina bifida occults at S 1.
12 Annals of Neurology
Yo1 7
No 1 January 1980
F i g I . Pedigree of Fumil[iiSL with centrul core diseuse
( C C D ) and malignunt h-yperthermia liMH);arrou indicates
proband.@
,.(
= M H susceptible and C C D , musculoskeletal
ubnormulitie.r, CPK high; 3 = M H and muJruloskeletal abnormalities; 0 .= female death; ~7= male death; 0 = musculoskeletal abnormalities by history; C;= sex unknou'n; =
miscarriage. 1
39.75
39.50
36.75
I /
t
induction
?"
40
66
80
100
120
140
160
TIME (mini
F i g 2. lncreuse in temperuture during anesthesia in a malignant hjpertherniia reaction in the probarid'.r brother. N o t e the
uneleruted riJe in temperature and vespoiise t o h.ypotherniia
treutment udth diJ-continuation of anesthe.tiu at 1 1 8 minutes
(arrow).
A second surgical correction of the camptodactyly was
performed, with meperidine and atropine given 30 minutes
preoperatively followed by succinylcholine, halothane, and
nitrous oxide anesthesia. A M H reaction occurred (Fig 2)
after 8 3 minutes of anesthesia, and his temperature increased to a maximum of 39.7"C 40 minutes later. There
was a sinus tachycardia of 170 beats per minute, skin
mottling, and muscle rigidity with mild opisthotonus. Arterial blood gas determinations showed a p H of 7.19, Paco2
of 43 mm Hg, PaOs of 131 mm Hg, bicarbonate of 17 mEq
per liter, and base excess of -14. Surgery and anesthesia
were promptly discontinued, and the boy was packed in ice
and given refrigerated intravenous Ringer's lactate, sodium
bicarbonate, and procainamide. An elevated CPK of
1,086 IU per liter (normal, 50 to 160) was almost entirely from the skeletal muscle (MM) fraction; five
months later the CPK was 46 IU per liter with a 7.6%
cardiac (MB) fraction. There was no hemoglobin o r myoglobin in the urine, and the patient recovered without
sequelae. Six days later he was pretreated orally with dantrolene sodium [18], and under local anesthesia and peripheral nerve block with 1% procaine, the surgery was
completed without incident. A muscle biopsy has not been
performed. Red blood cell osmotic fragility studies were
normal. Since this M H reaction, appropriate family members wear Medic-Alert identification.
The maternal grandmother (111-2) has scoliosis and exaggerated lordosis. On one occasion, surgery was performed
without incident. A maternal aunt (IV-3), her son (V-3),
and many other family members have similar musculoskeletal abnormalities. There is no history of other M H
reactions or anesthetic-related deaths; however, remaining
family members could not be located for detailed evaluation.
Materials and Methods
MUSCLE HISTOCHEMISTRY STUDIES. An initial biopsy of
the vastus lateralis muscle was performed on the proband
under local anesthesia with 1% lidocaine-procaine
should be used in MH-susceptible patients [3]. Later, the
proband and his mother had vastus lateralis muscle biopsies
performed under diazepam and morphine premedications,
diazepam, fentanyl, and thiopental induction, and nitrous
oxide and fentanyl maintenance with naloxone reversal. All
anesthetics were used without complication. Fresh-frozen
sections were prepared for histochemistry studies according to methods described previously [ 111.
MUSCLE CONTRACTURE STUDIES. A section of vastus
lateralis muscle separated in situ was fixed in a biopsy clamp
at resting length before excision. After excision, the
clamped biopsy specimen was placed in a 37°C KrebsRinger solution and transported to the laboratory. The biopsy specimen was maintained in the clamp, and individual
muscle strips (2 mm in diameter, 15 mm long) were dissected from the specimen and tied at resting length to a
wooden applicator stick. Each muscle strip was maintained
at 37°C in a Krebs-Ringer solution until contracture tests
were performed. With this technique, human muscle strips
remain viable for several hours 1301.
One end of the muscle strip was tied to a fixed rod and
the other end attached to a force transducer by a length of
silk thread. The muscle strip was immersed in 100 ml of
Krebs-Ringer solution maintained at 37°C. The KrebsRinger solution was continuously bubbled with carbogen
(95% oxygen/5% carbon dioxide) and the p H maintained
at 7.4 by a bicarbonate buffer. Each muscle strip was maximally stimulated by a pair of platinum electrodes. The
stimulation used was 0.2 pulses per second at 1 msec duration. Each muscle strip was stretched stepwise by 1 mm
F i g 3. Muscle biops.1 from the probund showing type Ifibers
(darkly stuined) with centrul cores. INADH-TR; ~ 4 j O
before
30% reduction.)
until maximum twitch tension was produced, thus approximating an optimum length-tension relationship.
Three percent halothane was introduced into the muscle
bath by shunting the carbogen flow through a calibrated
Dragerwick vaporizer. Caffeine was added in a cumulative
dose manner by introducing aliquots of a 100 mM stock
caffeine solution into the muscle bath.
Results
Myosin adenosine triphosphatase (ATPase), reduced nicotinamide-adenine dinucleotide-tetrazolium reductase
(NADH-TR), and succinic dehydrogenase (SDH)
stains of muscle fibers revealed normal subdivision into fiber types. In the proband, 31% of the
fibers were type I and 69% type 11. Fiber size was
normal for the patient's age. Sixty-five percent of the
type I fibers contained unstained central or paracentral core areas (Fig 3). In the mother, 76% of the
fibers were type I (type I fiber predominance) and
24% type 11. Type I fiber diameters measured 25 to
40 pm and type I1 80 to 140 p m (type I fiber atrophy
and type I1 hypertrophy). A few type I fibers, however, measured 80 to 100 pm. Oxidative stains
(SDH, NADH-TR) revealed that most type I fibers
MUSCLE HISTOCHEMISTRY STUDIES.
Frank et al: Central Core Disease and Malignant Hyperthermia
13
contained unstained central or paracentral core areas
(Fig 4). Scattered fibers contained multicore areas.
The routine myosin ATPase reaction showed that
some of the cores were in type I1 fibers; similarly, in
the oxidative enzyme reaction, cores were found only
in a few of the pale-staining type I1 fibers. N o other
abnormalities were seen in the preparations.
Electron microscopy of the proband’s muscle biopsy specimen revealed many fibers with preserved
cross-striations in the core region. A and I bands
were normal and continuous across the cores; however, occasional streaming of 2 bands was present.
Mitochondria were seen rarely within the cores. No
other abnormalities were present. Electron microscopy was not done on the mother’s muscle specimen.
contracture responses of the proband’s muscle to halothane and
caffeine are shown in Figure 5 . When 3% halothane
was bubbled into the chamber, the muscle responded
with a marked contracture response of 6.5 gm (Fig 5A).
There was no significant change in twitch tension in
response to halothane. Normal human muscle exposed to halothane in vitro may produce a small conMUSCLE CONTRACTURE STUDIES.
Fzg 5 Cowtracture vesporise ofprobarid c mujc/e Z N tztro (A)
Exposure of muscle t o halothane producer ubriormul co~trrlctare
(upiuurdshift of baselznej of I; 5 gm (B) Cumulutize additions
of raffezne produce 2 gm contracture after 2 m M caffezne ha!
beeti added h[orrttalhumari niuJcle rejpondJ to halothane u tth
o d j a Jntall lontracture, awd iojitra‘cl(ture
/o iaffezrie occurJ o d ~
after a ro?iieiitratzon of 4 mill cuffezrie i~ reurhd I ~ e eLext for
coiitrol valuer)
4 Aluiile bioph) Jrnm the molhev ihouzrig corei and multzcorer 111 nioj/ t l p r Ifiheri Idurkl) staznedj, paucztl of type I1
j b e r s ipule Jtatnziig) u i t J tlpe Ifiberprecloniziia?ice and atrophj h‘ote alin clight izttentuatzon of oxzdutzve enzyme al-tzvzti zit the iriitrr o/ t l p r 11 fiherc (I\IADN-’IR;~ 4 5 befire
0
30r4 reilurtloll i
Fig
t
Halothane
A
I min
I
0.5
L
B
14 Annals of Neurology
Vol 7 No 1 January 1980
I
1.0
I
2.0
Caffeine, m M
I
4.0
I
tracture response of less than 1 gm. The average contracture response of normal human muscle to 3%
halothane was reported as 0.17 gm, with a range of 0 to
0.93 gm, in 28 subjects [29]. The contracture response
of the proband’s muscle t o caffeine was also markedly
abnormal (Fig 5B). The first addition of 0.5 mM caffeine produced a significant contracture response of
0.4 gm, and after 1.0 mM caffeine, contracture was 0.8
gm. After 2.0 mM caffeine was added, contracture was
2.0 gm. The average dose of caffeine required to produce contracture of normal human muscle is 4 mM
caffeine, and this results in about 1 gm of contracture.
In 28 normal subjects, the caffeine concentration required to produce 1gm contracture averaged 4.8 mM
with a range of 2.9 to 8.8 mM [29]. The hypersensitivity of the proband’s muscle to caffeine and to
halothane was typical for M H muscle.
The contracture response of muscle from the
proband’s mother showed similar abnormalities. Although the mother’s muscle had a smaller contracture
response than the proband’s to halothane, her 1.4 gm
contracture was significantly larger than that for normal muscle. The contracture responses to cumulative additions of caffeine were almost identical in
magnitude to those produced by the proband’s muscle.
Discussion
M H occurs in children and young adults approximately once in 15,000 anesthesias, but is much less
frequent in older individuals [ 5 ] . In this family, as in
previous reports, there is a frequent history of previous uneventful operations. The incidence of reported
cases has been increasing in the past few years due to
a greater awareness of this disorder.
Although inhalational and muscle relaxant drugs
are most often the triggering agents [ 5 , 311, the
amide local anesthetics 161, ketamine [32], trimeprazine 1271, and even nitrous oxide [12, 341 have
occasionally been associated with M H . A form of
M H in swine is termed porcine stress syndrome since
stress alone can trigger the reaction [28]. Physical or
emotional stress, without anesthesia, has been associated with M H reactions in some families [36-381.
The exact defect inducing an M H reaction is not
known, but stimuli resulting in an increased myoplasmic calcium concentration appear to be the cause
of enhanced muscle contracture 1251.
Various associations with M H have been recorded
including autosomal dominantly inherited myopathies, elevated CPK values [41, arthrogryposis [3 11,
myelomeningocele [ 331, succinylcholine-induced
myoglobinuria [I, 21, and a syndrome of cryptorchidism, pectus carinatum, kyphoscoliosis, hypoplastic mandible, and antimongoloid slanted eyes in small,
dysmorphic boys [22, 231.
Myopathies, when specifically looked for in M H
patients and their relatives, have been so common
that it is doubtful M H can occur in the absence of a
neuromuscular abnormality [241. The musculoskeletal defects may be clinically inapparent o r subtle,
and occasionally the patient may have increased muscle bulk with a myopathic condition not being anticipated. Although histochemical abnormalities are
common in muscle from M H patients, these findings
are inconsistent and may be absent (Ellis, FR: personal communication, 1978), possibly due to sampling error. Muscle fibers in some M H patients have
occasional central cores, seen best on oxidative enzyme staining. Although there may be variation in
the number of cores present in family members, the
term central core disease has been affixed to those patients with central cores consistently seen in muscle
tissue 114, 351. Central cores, or “moth-eaten” or
target fibers, have been described in M H myopathies
not termed C C D and suggest that there may be variation and heterogeneity in this disorder 116, 171.
That central cores may be a nonspecific finding in
muscle disease does not exclude the possibility that
CCD with M H susceptibility may be a specific entity.
Although individually M H and C C D have been
well described in recent years, the occurrence of
these two conditions in the same individual or family
has seldom been reported. The proband’s aunt in
Denborough’s original Family A had a static congenital myopathy [7, 81. She walked at 3 years and had a
waddling gait, wasting of the lower quadriceps muscles, and moderate weakness in the pelvic and shoulder muscles. O n physical examination the propositus
and his sister did not appear to have a myopathy.
In 1973 and 1974, Isaacs and Barlow reported another family with C C D [19,20]. The grandson of the
proband had undergone surgery on two occasions
with M H reactions. H e had dislocated and underdeveloped patellae, pes cavus, unilateral equinovarus
deformity, a high-arched palate, ptosis, and lumbodorsal scoliosis. A sibling had similar musculoskeletal abnormalities, and his mother had slight
kyphoscoliosis. Both the grandson and his mother
had excessive motor nerve terminal branching on
muscle biopsy. This finding may be secondary to a
muscle disorder, but investigators consider that it
may suggest a neurogenic origin for the myopathies
of M H [24].
Eng and associates 1131 described two families with
M H and CCD. The proband of the first family had an
M H reaction during surgery for congenital dislocated
hips, and the father had dislocating patellae with
proximal muscle weakness. They briefly mentioned a
second family in which 2 siblings had congenitally
dislocated hips and the father had kyphoscoliosis.
A summary of important clinical and laboratory
Frank et al: Central Core Disease and Malignant Hyperthermia
15
Labnratnq and Cliuical Data o n Faniilirs with Central Core Disease arid Malignant Hyperthermia"
Author
Denborough [ 7 , 8, 261
Family A
Family I1
Isaacs et a1 [19, 201
Family KN
Eng er a\ 113\
Family A
Family B
Frank et a1 (this report)
Family SL
Patient
MusculoSkeletal
Abn.
MH
Proband
Father
Sister
Aunt
Second cousin
Third cousin
Third cousin
+
-
+
-
+
+
Proband
Proband
Daughter I
Grandson IA
Grandson IB
Daughter I1
+
+
+
+I+
+
+
Proband
Father
Sibling
Proband
Mother
Brother
+
+
+
+
+
+
+
+
+
55% of type 1
+
+
+
+
+
KS
+
Proband
Father
Cores"
Muscle
Contracture Test
+
EMG
Abn.
+
+
+
+
+
+
+
+
+
+
+
5V' of type I
In many type I
L
A
+
+
+
75% of type 1
CDH
KS
CDH
+
+
+
+
+
+
CPK
High
Delayed
Gross
Motor
Development
6576 of type I
Most type I
+
+
+
+
+
-
+
+
+
+
-
After MH
+
-
"Plus signs indicate present, minus signs absent.
''Type I refers to muscle fibers.
M H = malignant hyperthermia; Abn.
= congenital Jislocated hips.
=
abnormality; CPK
=
creatine phosphokinase; EMG
data from family SL and previously reported families
with combined C C D and M H is listed in the Table.
Musculoskeletal abnormalities were mild but
definitely apparent in our family. The mother of the
proband easily recognized other family members as
having "sleepy eyes," swayback, muscle weakness,
and incoordination. In the six families, 15 of 17 patients (88%) had at least one musculoskeletal defect
and 16 of 20 (80%) had elevated CPK values. Elevated CPK values in MI-I-susceptible individuals
most often occur between the ages of 10 and 49
years, but in age-matched controls, age has little effect on CPK values [ 4 ] .In some M H families, CPK
values may be inconsistent and slight elevations may
be due to muscle damage unrelated to M H . CPK
elevations are most helpful in those families in which
musculoskeletal defects are present [4].Indeed, each
person represented in the Table has either an elevated CPK value or at least one musculoskeletal abnormality, and 10 of 16 patients (63%) with elevated
16 Annals of Neurology
Vol 7 No 1 January 1980
=
electromyogram; KS
=
kyphoscoliosis; C D H
CPK values have musculoskeletal abnormalities.
Thus, the combination of CPK determinations and
careful physical examination is a useful screening
measure for family members with C C D and M H susceptibility. Electromyography was normal in the proband of our family and showed only mild rnyopathic
changes in 4 other patients listed in the Table. Caffeine and halothane muscle contracture studies, however, may be more reliable in detecting M H susceptibility, being positive in all 9 C C D patients tested.
In 1 C C D patient with a negative family history for
M H , the halothane muscle contracture test was
negative [21].
Because C C D can be associated with susceptibility
to M H , it would be desirable in the evaluation of
patients with C C D to include a detailed history of
M H reactions in pedigree members, physical examination for musculoskeletal abnormalities, CPK determinations, muscle histochemistry studies with
electron microscopy, and in vitro caffeine/halothane
muscle contracture studies. A combination of these
tests may be necessary to make a diagnosis and offer
appropriate genetic counseling. A Medic-Alert
identification should be worn at all times and anesthetic triggering agents avoided. Since patients with
CCD may have musculoskeletal abnormalities that
require surgery, it is important for physicians and
dentists to be aware of the possibility of catastrophic
M H reactions in order to prevent anesthetic deaths.
16.
17.
18.
19.
20.
Supported in part by National Institutes of Health Grant 09251.
21.
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& Stratton, 1978, pp 419-425
3. Bianchi CP: Cell calcium and malignant hyperthermia, in
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