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Confusing reporting in abetalipoproteinemia.

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recognize MAG or glycolipids; (4) in 2 patients with PP with
an axonal neuropathy, the IgM did not recognize nerve antigens and they did not respond; and (5) 3 patients with PP
had CIAN; the IgM reacted with gangliosides in one, with
MAG in another, and with no nerve antigens in a third.
None of these 3 patients responded to immunotherapy [ 11.
Based on these observations, it is clear that IgM PP are
clinicopathologically heterogeneous and can be associated
with disease affecting myelin, axons, motor neurons, or sensory ganglia. Furthermore, the binding of the IgM to the
myelin sheath and its specific immunoreactivity to MAG
andor glycolipids 13, 51 does not appear to indicate a causeand-effect relationship nor does it predict response to immunotherapy or plasmapheresis [47. Lumping all the IgM PP
into one group is therefore not correct and I disagree with
Dr Kelly's contention.
I see no practical reason to separate PP patients with an
ataxic neuropathy from patients with CIAN. To the contrary, my classification provides a differential diagnosis that
can stimulate the clinician to look for paraproteinemia in a
patient with CIAN to attempt a trial with immunotherapy.
Although none of my patients with pure ataxic PP (including 2 with a demyelinating component) responded to immunotherapy, it is possible, as discussed above, that some
patients can experience improvement if treatment is begun
before the ganglionic damage is extensive and irreversible.
some instances C5,61, the patients' families withheld or gave
inaccurate historical information. There were major differences in the subjective ophthalmological findings that depend on what the patient reports and the physician sees,
underlining the difficulty in evaluating the pediatric population. We have compiled some principles that describe the
major areas of disagreement in the early literature on
abetalipoproteinemia, so that subsequent investigators will
not have to repeat our time-consuming, albeit amusing,
neurodetective work. We offer suggestions for avoiding the
problem in the future.
Principle I. Consanguinity Decreases with Time
In 1950, Bassen and Kornzweig El} first described the disease we now call abetalipoproteinemia in a 17-year-old girl
whose parents were first cousins. The second case, in reality
the brother of this girl, was reported by Singer and associates
161 in 1952. Singer and colleagues were told, and carefully
reported, that the parents of their patient were second
cousins. This boy was described again by Schwartz and Rowland in 1963 [5]: at that time, the parents denied consanguinity, denied relationship to the family in New York, and reported that the boy's older sister (Patient 1) was in good
Principle 2. Health of Siblings Cannot Be Assumed
See Principle 1.
Office of the Clinical Director, NIH, NINCDS
Bethesdz, M D
Principle 3. The Appearance of the Retina Varies
A. Retinal pigmentary degeneration in the second patient
was reported at the ages shown as:
1. Dalakas MC: Chronic idiopathic ataxic neuropathy. Ann Neurol
SchaumburgH, Kaplan J, Windebank A, et al: Sensory neuropathy from pyridoxine abuse: a new megavitamin syndrome. N
Engl J Med 1983;309:445-448
Dalakas MC, Engel WK. Chronic relapsing (dysimmune) polyneuropathy: pathogenesis and treatment. Ann Neurol 1981;
~ ( s u P P ~ 134-145
Dalakas MC: Plasmapheresis in the treatment of paraproteinemic
polyneuropathy. In: The Utility of Therapeutic Plasmapheresis
for Neurological Disorders (NIH Consensus Development Conference). 1986;78-82
Ilyas AA, Quarles RH, Dalakas MC, Brady R O Polyneuroparhy
with monoclonal gammopathy:glycolipids are frequently antigens
for IgM paraproteins. Proc Natl Acad Sci USA 1985;82:66976700
Confusing Reporting
in Abetahpoproteinemia
Karyl Norcross, MD, PhD,*$ Harry Cynamon, MD,?
J. Nevin Isenberg, MD, PhD,?
Lawrence G . Dussack, BA,$ and Charles F. Dreyer, MD"T
Contradictory accounts of the natural history and pathological findings in patients with abetalipoproteinemia exist, in
part, because early investigators were not aware that their
patients had been previously described in the literature. In
Kornzweig 141, at age 9
Jampel E37, at age 19
Schwartz {5l, at age 22
Gouras [2], at age 23+
Singer [6], at ages 9-13.5
B. Macular involvement in this patient was reported as:
Jampel C31, at age 19
Gouras 121, at age 23 and
at autopsy
Principle 4.Vistral Fields Are Not Always
What They Appear
Visual field constriction in the second patient was:
Kornzweig 111, at age 9
Jampel 131, at age 19
Schwarrz {51, at age 22
Gouras [2], at age 23 +
Singer 161, at ages 9-13.5
Principle 5 . A Previously Unreported Case Ofen Is Not
Corollary: The likelihood of a case being unknowingly rereported increases with distance between the cities in which
the patient was examined.
1. Patient 2 was thought to be unreported by Singer and
colleagues [6], in Chicago, and by Kornzweig and
Bassen [4], in New York.
Annals of Neurology Vol 22 No 1 July 1987 95
2. In 1963, Ways and associates [ 7 ] in Seattle described a
white Jewish male as not having been reported previously. This patient had been reported in 1961 by Wolff
and Bauman 187, in New York.
Aspects of reporting that we found most helpful, short of
publishing a photograph of the patient o r of the optic fundi,
were inclusion of initials and birth date. W e believe it would
be wise to allow publication of the patient’s birth date with
case reports. Family members are not likely to alter this
fundamental feature, and it would not, by itself, identify a
particular patient and thus not invade privacy. Inclusion of
this item would allow the investigator to ascertain whether
the case of a patient had been previously reported and would
eliminate some of the confusion that now exists in the literature on abetalipoproteinemia and, perhaps, other race disorders.
Departments of *Neurology, Pediatrics
and $EEG and Evoked Potential Laboratory
The University of Texas Medical Branch
Galveston, T X 77550
1. Bassen FA, Kornzweig AL: Malformation of the erythrocytes in a
case of atypical retinitis pigmentosa. Blood 5:381-387, 1950
2. Gouras P, Carr RE, Gunkel RD: Retinitis pigmentosa in
abetalipoproteinemia: Effects of vitamin A. Invest Ophthalmol
10~784-793, 1971
3. Jampel RS, Falls H F Atypical retinitis pigmentosa, acanthrocytosis, and heredodegenerative neurornuscular disease. AMA
Arch Ophthalmol 59:818-820, 1958
4. Kornzweig AL, Bassen FA: Retinitis pigmentosa, acanthrocytosis, and heredodegenerative neuromuscular disease. AMA
Arch Ophthalmol 58:183-187, 1957
5. Schwactz JF, Rowland LP, et al: Bassen-Kornzweig syndrome:
deficiency of serum P-lipoprotein. Arch Neurol 8:108-124,
6. Singer K, Fisher B, Meyer MA: Acanthrocytosis. A genetic
erythrocytic malformation. Blood 7:577-591, 1952
7. Ways P, Reed CF, Hanahan DJ: Red-cell and plasma lipids in
acanthocytosis. J Clin Invest 42: 1248-1260, 1963
8. Wolff OH, Bauman WA: Studies concerning acanthocytosis: a
new genetic syndrome with absent beta lipoprotein. Am J Dis
Child 102:478-479, 1961
Methylmalonic Acid,
Methanol, Metabolic
Acidosis, and Lesions
of the Basal Ganglia
encephalopathy, metabolic acidosis (which may be severej,
and lesions of the basal gajnglia 11-3, 51.
Methanol intoxication, occurring primarily in alcoholics
who ingest methanol-containing liquids as a cheap intoxicant,
is described to cause metabolic acidosis, encephalopathy, and
optic neuropathy [ 5 ] . Lesions of the basal ganglia is a less
common complication [l--3, 51. These lesions are usually
necrotic and lucent on computed tomographic (CT) scans,
but in severe cases hemorrhages may occur [I, 21. There
appears to be a positive correlation between the severity of
the metabolic acidosis and the severity of these lesions {I).
Additional reports, without C T scans or pathological mate-rial, describe a parkinsoniaa syndrome that in one case responded to levodopa treatinent [3, 5}. These lesions occur
primarily in the putamen, but can also affect the globus pallidus in a bilaterally symmetrical pattern, and have occurred
in the setting of normal oxygenation El].
The similarities between methanol intoxication and the
case of methylmalonic acidemia described by Korf and col-.
leagues include severe metabolic acidosis with normal oxy-.
genation and the development of lesions in the basal ganglia.
The major dissimilarity is the apparent predilection of methanol neurotoxicity for tht- putamen and methylmalonic
acidemia for the globus pallidus, although this may merely be
related to the severity of the condition. Although one cannot
disprove the possibility that a neurotoxin such as methanol
or methylmalonic acid may secondarily damage the basal ganglia through the effect of some unknown mechanism, it
seems reasonable that vigorous treatment of the metabolic
acidosis might prevent the Ixain damage.
Department of Neurology
University of Colorado Health Sciences Center
and the Denver Veterans Administration Medical Center
Denver, CO
1. Aquilonius SM, Bergstrom I<, Enoksson P, et ai: Cerebral computed tomography in methanol intoxication. J Comput Assist
Tomogr 4:425-428, 1980
2. Erlanson P, Fritz H, Hagstarn KE, et al: Severe methanol intoxication. Acta Med Scand 177:393-408, 1965
3. Guggenheim MA, Couch JR, Weinberg W: Motor dysfunction as
a permanent complication of methanol ingestion. Arch Neurol
24:550-554, 1971
4. Korf B, Wallman JK, Levy HL Bilateral lucency of the globus
pallidus complicating methylmalonic acidemia. Ann Neurol 20:
364-366, 1986
5. Schneck SA: Methyl alcohol. In Vinken PJ, Bruyn GW (eds):
Handbook of Clinical Neurology. Amsterdam, Elsevier, 1979,
Vol 36
Bruce R. Korf, MD, PhD,* James K. Wallman, MD,I
and Harvey L. Levy, MDS
Neil L. Rosenberg, M D
The article by Korf and colleagues describes a 19-month-old
child who developed an encephalopathy, severe metabolic
ketoacidosis, and bilateral lucencies of the globus pallidus,
and who was found to have methylmalonic acidemia [4].
Methanol, not discussed in their report, can also cause an
96 Annals of Neurology Vol 22 N o 1 July 1987
W e thank D r Rosenberg for adding methanol intoxication to
the list of conditions associated with necrosis of the basal
ganglia. W e agree that the metabolic acidosis which accompanies these conditions should be vigorously treated. I t is not
clear, however, that treatment of the acidosis per se would
prevent the neuropathological sequelae. Necrosis of the
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confusing, abetalipoproteinemia, reporting
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