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Acetabular dysplasia and Charcot-Marie-Tooth disease in a family. A

report of four cases
JE Fuller and PA DeLuca
J Bone Joint Surg Am. 1995;77:1087-1091.

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Acetabular Dysplasia and

Charcot-Marie-Tooth Disease in a Family
A REPORT OF FOUR CAsE5*

BY JONATHAN E. FULLER, M.D.t. AND PETER A. DELUCA, M.D$. NEWINGTON. CONNECTICUT

Investigation performed at the Department of Orthopaedic Surgery, Newington Children ‘s Hospital, Newington

Orthopaedic manifestations of type-I hereditary grandmother of the children. Although two of the sib-
motor and sensory neuropathy (Charcot-Marie-Tooth lings had operative procedures for the hip dysplasia. the
disease) include recurrent dislocation of the patella4, pes purpose of this report is not to suggest a treatment
cavovarus’45. and scoliosis5. In 1985, Kumar et al. de- approach for this disorder but to alert clinicians to our
scnibed hip dysplasia in five girls from three families. finding of a family history of type-I hereditary motor
One patient was diagnosed as having type-Il hereditary and sensory neuropathy.
motor and sensory neuropathy (the neuronal type of
peroneal muscular atrophy) according to clinical and Case Reports
electromyographic criteria. and the other four girls (two CASE 1. In December 1988, at the age of twenty-one years, the
older sister was seen at another institution because of increasing pain
pairs of sisters) had type-I hereditary motor and sensory
in the right hip that had begun two to three years previously. Although
neuropathy.
she had been an active teenager, she reported that she “could never
In 1989, an unpublished review of the medical rec- run very well” and had a “peculiar gait” with a noticeable limp. A
ords of patients who had type-I hereditary motor and radiograph revealed bilateral dysplasia of the hip with valgus defor-
sensory neuropathy was done at Newington Children’s mity of both femoral necks and increased femoral anteversion (Fig.
1-A). A varus rotation osteotomy of the proximal part of the right
Hospital. Twenty-six of the seventy-seven patients who
femur was done at that time.
had this diagnosis were available for a clinical and radio-
In December 1989, when the patient was twenty-two years old,
graphic examination of the hips. A review of the charts she was referred to Newington Children’s Hospital for treatment of
of the remaining fifty-one patients was performed, and the left hip. The right lower limb was three centimeters shorter than
in none of those records was there any suggestion of an the left, and there was a pronounced Trendelenhurg gait on the right.
On examination, the range of motion of the right hip consisted of 120
abnormality of the hip. Of the twenty-six patients for
degrees of flexion. 30 degrees of abduction in flexion, 20 degrees of
whom radiographs and a record of an examination of
abduction in extension, 30 degrees of internal rotation. and 50 degrees
the hips were available, two had dysplasia of the acetab- of external rotation. Motor examination showed that the strength of
ulum and excessive valgus angulation of the femoral the abductors and flexors of the left hip and the adductors and
neck bilaterally. These patients, a boy and a girl, were extensors of both hips was grade 5 of 5: the strength of the abductors
and flexors of the right hip was grade 4 of 5. Examination of the feet
fraternal twins. One had no symptoms of hip disease and
showed intrinsic muscle atrophy and mild cavovarus deformity. The
the other had mild symptoms. including a limp and pain
hands were normal in appearance and strength.
in the groin with activity. A pelvic radiograph revealed subluxation of the right hip with a
We describe here a family in which four siblings, two break in the Shenton line bilaterally. The right femoral neck was in
brothers who were twenty-five and twenty-seven years varus angulation. The articulotrochanteric distance was -2 centime-
ters. The center-edge angle was negative on the right and approxi-
old and two sisters who were nineteen and twenty years
mately 0 degrees on the left. There was lateral sclerosis of both
old, were seen because of pain that was secondary to
acetabula. A radiograph of the pelvis with the right hip in adduction
dysplasia of the hip. The symptoms were not apparent and internal rotation showed an improved position of the femoral
until late adolescence or early adulthood. All four of the head in relation to the acetabulum. Abduction and internal rotation
siblings and their mother had type-I hereditary motor resulted in improvement in the Shenton line on the left.
In November 1990. the patient had both a Steel osteotomy and a
and sensory neuropathy according to clinical and dcc-
valgus rotation osteotomy on the right. In June 1991 . a Salter osteotomy
tromyognaphic diagnostic criteria. The radiographs of
and a varus rotation osteotomy was performed on the left (Fig. I-B).
the mother showed degenerative joint disease without Electromyographic studies were performed when the patient was
evidence of acetabular dysplasia. The disease was also twenty-four years old. Conduction was so poor in the peroneal nerves
diagnosed with use of clinical criteria in the maternal that no result could be obtained, In the left median nerve, motor
latency was 19.0 milliseconds (normal, 4.5 milliseconds or fewer) and
the conduction velocity was 12.5 milliseconds (normal. 45.0 millisec-
*No benefits in any form have been received or will be received
onds or more). This pronounced slowing is consistent with the diag-
from a commercial party related directly or indirectly to the subject
nosis of type-I hereditary motor and sensory neuropathy.
of this article. No funds were received in support of this study.
tSection of Orthopaedics. Dartmouth-Hitchcock Medical Cen- When she was last seen,in February 1993,the patient had no pain
ter, Lebanon. New Hampshire 03766. and slight abductor weakness. There was wasting of the first dorsal
lDepartment of Orthopaedic Surgery, Newington Children’s interosseus bilaterally. with the strength graded 4 of 5. Plantar flexion
Hospital. Newington. Connecticut 061 1 1. and inversion strength was grade S bilaterally: the strength of the

VOL. 77.A, NO. 7. JULY 1995 1087

1088 J. E. FULLER AND P. A. DELUCA

Fio. 1-A

Figs. 1-Aand 1-B:Case I.

Fig. I -A: Anteroposterior radiograph of the pelvis. made when the patient was first seen at another institution. showing bilateral acetabular
dysplasia with coxa breva. The right side is more severely affected than the left.

Fo;. 1-B
Anteroposterior radiograph of the pelvis. made after a Steel osteotomy and a valgus rotation osteotomy on the right and a Salter osteotomy
and a varus rotation osteotomy on the left. There is improved coverage of the femoral heads, although the widening of the medial joint space
has not changed.

anterior tihialis, peroneals. and long-toe flexors and extensors was neck (Fig. 2-A). Two months later. in July 1989, the patient had a varus
grade 4+: and the hip-abductor strength was grade 4. rotation osteotomy of the right hip. Postoperatively. there was short-
ening of the right lower limb, and the Trendelenhurg gait and the pain
CASE 2. In May 1989. when the ‘ounger sister was nineteen years in the hip persisted.
old, she had been seen for pain in the right hip at another institution. The patient was then referred, at the age of twenty years. to
At that time, the gait was described as antalgic with a right-sided Newington Children’s Hospital for further management. At that time,
Trendelenhurg lurch. However. neither the measurements of the the right lower limb was found to be five centimeters shorter than the
range of motion of the hip nor the results of a neurological examina- left. The range of motion of the right hip consisted of 120 degrees of
tion were recorded. Radiographs made at that time revealed a dys- flexion, 30 degrees of abduction in flexion, 30 degrees of abduction in
plastic acetahulum and severe valgus angulation of the right femoral extension, 40 degrees of internal rotation, and 45 degrees of exter-

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 A(’ETABtJLAR DYSPLASIA AND CHAR(Dl-MARIE-TOOTH DISEASE IN A FAMILY 1089

Fi;. 2-A
Figs. 2-A and 2-B: Case 2.
Fig. 2-A: Anteroposterior radiograph of the pelvis. made when the patient was first seen at another institution, showing severe dysplasia of
the right acetahulum. The left acetahulum is less severely affected. but lateral subluxation of the femoral head is evident.

FiG. 2-B
Anteroposterior radiograph of the pelvis. made after a Steel osteotomy and a valgus rotation osteotomy on the right. The coverage of the
femoral head is improved.

nal rotation. Motor exaiiination showed the strength of the hip ab- In December 1990. when she was twent’-one years old. the
ductors. adductors. flexors, and extensors to be grade S of S except patient had both a Steel osteotomy and a valgus femoral osteotomv
for the abductors on the right (grade 3) and the tlexors on the right on the right (Fig. 2-B). Nine months later, the abductor lurch had
(grade 2). Examination of the feet showed intrinsic muscle atrophy almost completely disappeared. Electromvographic testing was per-
and cavovarus deformit. Radiographs of the right hip revealed that formed when the patient was twenty-three years old. The peroneal
the articulotrochanteric distance was two centimeters less than Ofl the nerves could not he studied as there was complete absence of conduc-
left side. and the neck-shaft angle was 85 degrees. The center-edge tion. The right median nerve showed a motor latency of I 3.4 millisec-
angle was 10 degrees. The Shenton line was broken on the left hut was onds (normal, 4.5 milliseconds or fewer), and the nerve-conduction
restored on radiographs made with the hips in maximum abduction velocity was only 12.0 milliseconds (normal. 45.0 milliseconds or
and internal rotation. more). This severe slowing is consistent with type-I hereditar’ motor

VOl.. 77-A. NO. 7. JUlY 995

1090 J. E. FULLER AND P. A. DELUCA

Fii;. 3
Case 3. Anteroposterior radiograph of the pelvis. made when the patient was first seen. showing bilateral acetabular dysplasia with coxa
plana. The extent of involvement is symmetrical.

and sensory’ neuropathy. In September 1991. at the latest follow-up bilaterally. 35 degrees of internal rotation on the right and 20 degrees
examination, the strength of the peroneals. long-toe extensors, ante- on the left, and 20 degrees of external rotation on the right and 10
nor tihialis, and hip abductors was grade 4 of 5. degrees on the left. Motor examination showed that the strength of
the hip abductors was grade 4 of 5 and the strength of the adductors,
(‘AsI 3. In June 1991, when he was twenty-six sears old, the flexors, and extensors was grade 5. Examination of the feet showed
younger of the two brothers was seen at Newington Children’s Hos- decreased sensation in a stocking distribution. intrinsic muscle atro-
pital because of pain in the left side of the groin that had begun two phy, and severe cavovarus deformity. There was wasting of the first
years earlier. The pain was exacerbated by activity and relieved by dorsal interossei in both hands. A one-centimeter rib prominence was
rest. On physical examination. the patient had the Trendelenhurg sign seen on the left. Radiographs showed substantial migration of both
bilaterally and the Galeazzi sign Ofl the right. and he walked with a hips superiorly and laterally with sclerosis of the acetabula anteriorly
bilateral Trendelenhurg gait. i’he range of motion ofthe hips consisted and laterally (Fig. 3). Both acetabula were shallow. A posteroanterior
of 1 10 degrees of flexion and 20 degrees of abduction in flexion radiograph of the spine showed a 20-degree left scoliosis that cx-

Case 4. Anteroposterior radiograph of the pelvis. made when the patient was first seen, showing bilateral acetabular dysplasia. The right hip
is more severely affected. with slightI’ greater lateral subluxation and more widening of the medial joint space. Subchondral sclerosis is evident
in the weight-hearing portion of the acetahulum bilaterally. An erosion of the superolateral margin of the left acetahulum is seen.

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 A(ETABULAR DYSPLASIA AND CHARCOT-MARIE-TOOTH DISEASE IN A FAMILY 1091

tended from the fourth to the eighth thoracic vertebra and a 15-degree athy that is characterized by an autosomal recessive
right scoliosis that extended from the eighth to the twelfth thoracic
mode of inheritance3.
vertebra. Arthrograms of both hips showed widening of the medial
The family described in the present report shares
joint space with mild incongruity and acetahular dysplasia bilaterally.
A bilateral pelvic osteotomy with a bilateral varus rotation osteotomy many features with patients who have type-I heredi-
was recommended, hut the patient declined treatment. tary motor and sensory neuropathy. These include a
Four months after the initial visit, electromyographic studies Trendelenburg gait. pes cavovarus, decreased nerve-
showed a latency in the left peroneal nerve of 9.6 milliseconds (nor-
conduction velocities, and a probable autosomal dom-
mal. 5.5 milliseconds or fewer) and a conduction velocity of 17.3
milliseconds (normal. 40.0 milliseconds or more). In the left median
inant mode of inheritance. It appears doubtful that a
nerve. the latency was 9.8 milliseconds (normal. 4.5 milliseconds or subset of type-I hereditary motor and sensory neu-
fewer) and the conduction velocity was 19.0 milliseconds (normal. ropathy could be defined solely on the basis of hip
45.0 milliseconds or more). The results were consistent with type-I dysplasia. The reason for an association between the
hereditar motor and sensors’ neuropathy.
neuropathy and the hip dysplasia is unclear. One could
speculate that weakness of the proximal muscles about
(‘,sE 4. In August 1991, the older brother (a twenty-seven-year-
old construction worker) had no symptoms of hip disease, hut radio- the hip could lead to acetabular dysplasia. However,
graphs of the hips were made because of the family history of hip although all of the patients described in this report
dysplasia (Fig. 4). The studies showed bilateral acetabular dysplasia eventually had weakness of the hip abductors, it is im-
with widening of the medial joint space and sclerosis of the superolat-
possible to say whether this caused on resulted from
eral borders of the acetahula. The left femoral head was uncovered 42
the dysplasia. The sisters (Cases 1 and 2) had full ab-
per cent, and the right femoral head was uncovered 43 per cent. The
center-edge angle measured 10 degrees on the right and S degrees on ductor strength in the untreated hips when they were
the left. Mild coxa valga was present bilaterally. The strength of the first seen at our institution, but they had a one-grade
posterior tihialis was full, and the strength of the ankle dorsiflexors, loss of strength bilaterally at the time of the most re-
long-toe extensors. and peroneals was grade 4 of 5. Electromyo-
cent follow-up.
graphic testing revealed a distal latency of 10.5 milliseconds (normal.
With regard to the implications for clinical practice.
5.5 milliseconds or fewer) and a nerve-conduction velocity of 20.0
milliseconds (normal. 40.t) milliseconds or more) in the right peroneal we recommend that the possibility of a neuromuscu-
nerve. The patient declined treatment for the hip dysplasia. lan etiology be explored in an adolescent on a young
adult who is seen with hip dysplasia. The physician must
Discussion
obtain a detailed family history in conjunction with a
Type-I hereditary motor and sensory neuropathy is sensory and motor examination, and a high index of
one cause of peroneal muscle atrophy. It is charac- suspicion is necessary even if only a mild, distal weak-
tenized by severe slowing of motor nerve conduction ness is discovered. Our patients had severe delays in
and the histological changes of segmental demyclin- the conduction in the penoneal nerves despite gnade-4
ation with hypentrophy of nerve fibers. Described as strength in the muscles supplied by these nerves. It is
onion-skinning’ of nerve fibers. it results from repeated worth noting that the results of the distal motor exami-
demyelination and remyelination. Clinical phenomena nations have not deteriorated substantially over the
include deformities of the feet, such as claw toes (pied duration of our follow-up. In addition, although hip dys-
en griffe) and pcs cavovarus: a steppage gait: loss of deep plasia is rare in patients who have type-I hereditary
tendon reflexes: and sensory and motor deficits pre- motor and sensory neuropathy. it may be appropriate to
dominantly in the feet and, to a lesser extent, in the make routine screening radiographs of the hips at an
hands. Type-I hereditary motor and sensory neuropathy early age in patients affected by or with a family history
is inherited as an autosomal dominant condition with of the disorder if there is any suggestion of pain in the
high penetnance’. It has been suggested that there is a hip or an abnormal range of motion of the hips on
subset of type-I hereditary motor and sensory neurop- physical examination.

References
1. Dyck, P.J., and Lambert, E, H.: Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic. genetic.
and electrophsioIogic findings in hereditary polyneuropathies. Arch. Neurol., 18: 603-618, 1968.
2. Dyck, P. J., and Lambert, E. H.: Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic. genetic.
and electroniyographic findings in various neuronal degenerations. Arch. NeuroL, 18: 619-625, 1968.
3. Dyck. J. D.; Thomas, P. K.; Lambert, E. H.; and Bunge, R. [editors]: Peripheral Neuropathy. Ed. 2. vol. 2. pp. 1561-1562. Philadelphia. W. B.
Saunders, 1984.
4. Harding, A. E.,and Thomas, P. K.: The clinical features of hereditary motor and sensory neuropathy types I and II. Brain, 103: 259-280, 1980.
5. Hensinger, R. N,, and MacEwen, G. D.: Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy,
Friedreich’s ataxia, familial dysautonomia. and Charcot-Marie-Tooth disease. J. Bone and Joint Surg., 58-A: 13-24, Jan. 1976.
6. Hosking, 6.: Peroneal muscular atrophy. Devel. Med. and Child Neurol., 22: 386-390, 1980.
7. Kumar, S. J.; Marks, H. G.; Bowen, J. R.; and MacEwen, G. D.: Hip dysplasia associated with Charcot-Marie-Tooth disease in the older child
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