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Compressive myelopathy in the Schwartz-Jampel syndrome.

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roentgenogram and echocardiogram were normal. Lumbar
puncture revealed 15 lymphocytes, 1 polymorphonuclear
leukocyte, and no red blood cells per cubic millimeter at
normal opening pressure, with protein of 33 mgldl and glucose of 71 mg/dl. Gram stain, acid-fast bacillus (AFB)
smear, India ink preparation, and cerebrospinal fluid
VDRL titer were negative. Bacterial, AFB, and fungal cultures revealed no growth. Repeat spinal fluid examination
five days later showed 5 red cells and no white cells per
cubic millimeter with protein of 2 1 mgldl and glucose of 59
mg/dl. The patient was readmitted to the hospital in June,
1980, because of continuing occipital headache and a
two-week history of difficulty swallowing liquids and unsteady gait. Decreased elevation of the palate, truncal
ataxia, and a right extensor plantar response were noted.
Cervical myelography with Pantopaque revealed an intradural defect at the second cervical vertebra. Cerebrospinal fluid obtained prior to introduction of contrast
material revealed 8 lymphocytes and 2 red blood cells per
cubic millimeter, a protein level of 33 mg/dl, and glucose
level of 72 mgldl. Bacterial, AFB, and fungal cultures
showed no growth. Decompressive laminectomy of the
first and second cervical vertebrae confirmed the diagnosis of Arnold-Chiari malformation type I.
It is important to realize that an aseptic meningeal reaction may occur in adult Arnold-Chiari malformation type I.
The presence of cerebrospinal fluid pleocytosis should not
further delay this already difficult diagnosis.
Department of Neurology
University of Miami School of Medicine
Miami, FL 33152
Compressive Myelopathy
in the Schwartz-Jampel
David L. Smith, MD, Robert Shoumaker, MD,
and Robert Shuman. M D
Recent reports by Young and associates [ 5 ] and Ballenger
et a1 [3] have emphasized the potential for compressive
myelopathy to occur in the mucopolysaccharidoses. This
potential for spinal cord compression may be seen in various disorders of osseous development. W e have observed a
patient with Schwartz-Jampel syndrome who developed a
Brown-Sequard syndrome secondary to stenosis of the cervical spine, an association not previously reported.
A 16-year-old girl with the classic clinical features of the
Schwartz-Jampel syndrome presented with a progressive
right hemiparesis of eight months’ duration. Physical examination showed a thin female with blepharophimosis and
pinched facies. There were flexion contractures of the elbows, hips, and knees. Cervical motility was limited, and
percussion of the cervical spine elicited pain. Cranial nerve
functions were intact except for limitation of facial movement. A spastic right hemiparesis was present in addition to
generalized muscle weakness and atrophy. Position and
vibration sensation was reduced in the right arm and leg,
pain and temperature perception in the left arm, trunk, and
leg. Sensory acuity to pinprick was normal above the fourth
cervical dermatome. Gait and coordination were impaired
secondary to weakness and spasticity. Platybasia and basilar
impression of the skull were noted on plain roentgenograms. Myelography demonstrated narrowing of the cervical
sagittal diameter of 6 m m (normal, >12) from the third
through sixth cervical roots with dorsal displacement of the
cord. T h e patient underwent a decompressive laminectomy
from the third through seventh cervical nerve roots. Six
months later she showed residual deficits of the hemiparesis but was able to walk with the aid of crutches.
Schwartz and Jampel initially described two children
with blepharophimosis, dwarfism, and multiple bony defects [4].Myopathic features were elucidated by Aberfeld
et a1 [ 2 ] . These children may appear normal at birth, but
congenital dislocation of the hips and difficulty with feeding have been noted. The ocular and facial features of the
school-age child are characterized by a small chin and
oropharynx with the mouth having a pinched appearance.
Multiple bony abnormalities include hip dislocation,
coxa vara and valga, pectus carinatum, platyspondylia,
basilar impression, and platybasia. Biopsy of cartilage from
one patient was reported to show inactive chondrogenesis
with poor columnar organization [l].Compression of the
spinal cord has not previously been noted. The SchwartzJampel syndrome should be included among those disorders of osseous development in which a potential for compressive myelopathy exists.
Department of Neurology and Neuropathology
University of Nebraska Medical Center
Omaha, NE 68105
1. Aberfeld D, Hinterbuchner L, Schneider M: Myotonia,
dwarfism, diffuse bone disease and unusual ocular and facial
abnormalities. Brain 88313-326, 1965
2. Aberfeld D, Namba T, Vye M: Chondrodystrophic myotonia:
report of two cases. Arch Neurol 22:455-462, 1970
3. Ballenger CE, Swift TR, Leshner RT, El Gamma1 TA,
McDonald TF: Myelopathy in mucopolysaccharidosis type I1
(Hunter syndrome). Ann Neurol 7:382-385, 1980
4. Schwartz 0,Jampel R: Congenital blepharophimosis associated
with a unique generalized myopathy. Arch Ophthalmol 68:
52-58, 1962
5. Young R, Kleinman G, Ojemann RG, Kolodny E, Davis K,
Halperin J, Zalneraitis E, DeLong G R Compressive myelopathy in Maroteam-Lamy syndrome: clinical and pathological findings. Ann Neurol 8:336-340, 1980
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syndrome, compression, schwartz, myelopathy, jampel
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