Comments on the Contents of PEDIATRICS or any topic af general interest are invited. Queries
and answers may be exchanged between correspondents. Letters accepted for publication will
not be subject to editorial alteration except as to proper form. The Editor reserves the right to
publish replies to letters and to solicit respoiues from authors and others.
ThiS column has been established to provide a forum of all members of the profession for exchange of information and views. Statements and apinion.s expressed in letters are those of the authors and do not represent the official position of the American Academy of Pediatrics, Inc., or
its Committees.
LETTERS
TO
THE
EDITOR
Glycogen Storage Disease Previously
Reported as Familial Hyperlipidemia
To i-un EDITOR:
In the April 1959 issue of this journal, under
the title of “An Inborn Error of Lipid Metabo-lism,” clinical studies were reported on two brothers with hyperlipidemia.1 Although these children presented several of the clinical and laboratory manifestations on glycogen storage disease of Von Gierke’s type, this diagnosis was ruled out when histological examination of two liver biopsies done on one of the children at a three year’s interval were reported as
con-taming low or normal amounts of hepatic gly-eogen . Further investigation of these patients
and of a similarly affected baby girl born to the parents showed a marked elevation of
serum triglycerides and a moderate elevation
of cholesterol and phospholipids. Ultracentri-fugal analysis of the plasma showed that all three lipid classes were primarily concentrated
in the lipoproteins of densities 1.006 to 1.019. Dietary studies showed a definite elevation of
serum lipids following the ingestion of a high
carbohydrate diet. For these reasons these pa-tients were considered to belong to the group of patients with carbohydrate-induced
hyper]i-2 The mode of inheritance conformed
to that of a single Mendelian autosomal trait. Thin layer chromatography of serum phospho-lipids3 showed an increase in all phospholipid classes except lysolecithin, which was normal. Analysis of the various phospholipids in the ultracentrifugal fractions revealed that unlike the other phospholipids (which were concen-trated in the lipoproteins of densities 1.006 to 1.019) lysolecithin was primarily increased in the high density lipoproteins.
Recently the eldest child in this group de-veloped arthritis. Serum uric and lactic acids were found to be elevated in all three children.
Liver biopsy done on the third child showed a complete absence of glucose-6-phosphatase ac-tivity and a high level of glycogen in liver cells, thus establishing the diagnosis of Von Gierke’s disease.
In view of these findings we believe that all three children are suffering from glycogen stor-age disease and that results of lipid studies and the mode of transmittance should be re-viewed in this light. The close similarities of the hyperlipemia in these children to that seen in patients with ‘carbohydrate induced’
hyper-lipemia is worthy of notice and suggests that the study of hyperlipemia in glycogen storage disease may throw light on the pathogenesis of the carbohydrate induced hyperlipemia.
SMILJA JAKovcIc, M.D.
WALTER FUHRMANN, M.D.
DAVID YI-YuNG Hsi, M.D.
Genetic Clinic, Children’s Memorial Hospital and the Department
of Pediatrics, Northwestern University
Medical School
Chicago, Illinois
REFERENCES
1. Bigler, J. A., Mais, R. F., Dowben, R. M., and Hisa, D. Y. Y. An inborn error of lipid me-tabolism. PimlAmics, 23:644, 1959.
2. Jakovcic, S., Fuhrmann, W., and Hsia, D. Y. Y. Essential familial hyperlipidemia in child-hood. PEDIATRICS, 34:822, 1964.
3. Christian, J. C., Jakovcic, S., and Hsia, D. Y. Y. Thin-layer chromatographic analysis of plasma phospholipids in essential familial hyper-lipidemia. J. Lab. Clin. Med., 64:756, 1964. 4. Jakovcic, S., and Hsia, D. Y. Y. Phospholipid
components in the lipoprotein classes in Von Gierke’s disease. In press.
School Health Services
To m EDITOR:
LETTERS TO THE EDITOR 957
Dr. H. H. Mitchell (edited by Dr. Frazier) and
published in PEDIATRICS, June, 1965, cannot help but be grateful for his long and
deter-mined efforts ill the cause of quality school health services to children. His efforts deserve
far greater recognition than was given during
his lifetime.
His review of the progress of school health services, as they have developed, is clear and
definitive for authoritative reference, and
reflects commendation on the Academy for its
part during its short consideration of this most
important national problem. No program of
such broad scope can ever be completely solved, but the Academy should assume
lead-ership, made up, as it is, of pediatricians whose
prime interest is child care and prevention of
illness of body and mind. It has the
responsi-bility to carry on as active a campaign as
pos-sible through its Committee on School Health.
Tile Committee is to be commended for the
part it Ilas played in the past.
In this last publication by Dr. Mitchell, ref-erence is made by him to this effect: “. . . The
more important problems to be solved are no
longer physical; in fact, they involve the mind
as much or more than the body. We now try to understand problems of learning, behavior,
sensory functioning, emotional reactions,
so-cial, familial, and cultural aspects of the child’s
(levelopment
Herein lies the new image which should be
developed by the school health physician and
specifically by the pediatrician. The national
emphasis now being accorded to social,
cultur-al, and ethnic deprivation (long overdue)
de-mands a new approach by school health ser-vices. Head Start is the newest of these
pro-grams to place emphasis on preschool
orienta-tion to learning. Heretofore preschool (nursery schools) programs were only available to the
middle class who could afford such. Many
educators and others have advocated such
pro-grams. In fact Language Arts Programs have
been in existence in the public schools of the
District of Columbia for some three years. This
program is similar in many ways to that of
Head Start but is limited because of the small
grant by which it is financed. Reports of the
Language Arts Programs have been most
en-couraging, functioning effectively in areas of heavy privatioll.
Throughout Dr. Mitchell’s paper, there are
many mentions of “quality” of school health
services, not only to screening and diagnostic
activities, but to “follow-up” correction of
deficiencies. It is notorious that parents in de-prived areas have little motivation to take ad-vantage of “correction” facilities. At times the absence of one or both parents is the reason for neglect.
Again Dr. Mitchell emphasizes the need for
better communication with teachers and the need for physician-educator conferences where individual children are concerned, including
psychologists and social workers. This
co-oper-ation between educators and physicians
repre-sents a program of focus on basic orientation to learning. Education and Health are the
es-sential components of behavior and intelli-gence essential to a decent civilization. Reli-gion, morality, laws, employment, and longevi-ty follow, if the foregoing foundation is solid.
From the foregoing it is evident that the
physician must assume more active
participa-tiOll in the school as a partner in education.
The children of both middle and deprived
classes attend public schools and are in a sense
a “captive” audience. Thus the school physi-cian is provided an entree to “unreachable” families where past experience has been frus-trating in the extreme. And, as a matter of fact, medical organizations and specifically
school physicians, have had too little
commu-nication with educators. Fortunately the pedia-trician in recent years has had increased orien-tation in behavior problems, retardation, etc. He has had recent orientation in the area of deprived and culturally neglected families. It is unfortunate that he has not had the oppor-tunity to observe children in a learning
envi-ronment. (A few attempts have been made to
involve residents in such, but apparently with
little success.)
The Public Health Services in larger cities have made enviable records in preventive measures on community levels. They have made great strides in sanitation, control of ye-nereal diseases, tuberculosis, mental health and many other community problems. Many man-age “county” hospitals with efficiency.
How-ever, few are equipped to concentrate on mdi-vidual problems of such diverse reactions as those encountered in the school setting. The
shortage of personnel is a big factor in this
lack of “quality.” In the second place
envi-958 LETTERS TO THE EDITOR
At the request of the Chief of the Division ronment. A defective body can still maintain a
healthy mind and be an asset to the
communi-ty.
After several years in reasonably close con-tact with Public Schools and listening to re-ports of vandalism, under achievement, drop-outs, and other asocial behavior, the conclusion has been reached that: (1) Physician
(pedia-tric) orientation toward individual problems of the school child should be stepped up. (2) Physicians should take part in policies
govern-ing programs directed to better school health services. (3) That School Health Services should be directed by a physician under the Public School System. Briefly he should estab-lish a rigid “follow-up” program with Public Health and other voluntary facilities. That a program of in-service training be maintained for better understanding of physiological and mental abberations encountered in the individ-ual school child. That physicians for school
health services should be employees of the
Board of Education and their activities
direct-ed by the Medical Director.
PRESTON A. MCLENDON, M.D., F.A.A.P.
Member, Board of Education
District of Columbia Public Schools
Washington,
D.C.
Pulmonary Vasoconstriction and the Pharmacology of Respiratory Distress
(Continued)
To THE EDITOR:
The stimulating controversy over the R.D.S. problem between Dr. Ivanhoe and Dr.
Cle-ments and associates (PEDIA’rmcs, 36:451, 1965) prompts expression of a few additional thoughts.
Through a proponent of the theory that the basic problem in these infants is lack of nor-mal sympathetic neurohormonal activity at time of initial inspiratory efforts, I must agree with Dr. Clements that direct evidence for such a deficiency is tenuous. However, the
evi-dence citedl against the possibility is question-able. The ethylene diamine condensation reac-tion used by Cheek and associates for mea-surement of plasma norepinephrine and epi-nephrine is not a highly specific procedure giv-ing falsely high values in the presence of renal
insufficiency, phenol, catechol,and dopac.’ In spite of this, the levels reported for norepi-nephrine in the infants studied were not sig-nificantly elevated over normal controls. In
addition, the youngest affected infant studied was 10 hours old and the mean age for the group was 22 hours. This would suggest that these infants had some degree of respiratory acidosis-a factor which has been shown to significantly limit peripheral vascular reactivity
to norepinephrine.
I presume that Dr. Clement is basing his impression of “over-activity of the sympathetic,
a depression of the parasympathetic system or both” in these infants upon the clinical re-sponse obtained with acetylcholine infusion. This may not prove to be a valid assumption.
Perhaps pertinent to this is the observation
of Burn and Rand4 that cholinergic fibers are present in all sympathetic postganglionic sup-plies examined. They also noted the similarity of certain acetyicholine actions to those of sympathetic stimulation aIld suggest that the normal release of norepinephrine might be mediated by acetylcholine.
Most significant in this discussion is the growing evidence for neurohormonal imbal-ance as an etiologic key in R.D.S. Theories pertaining to neurohormonal factors and mode of action of certain drugs on the pulmonary
vasculature and bronchial-alveolar tree must be placed within the context of our ignorance of pulmonary sympathetic-parasympathetic
neurohormonal relationships.
EDWARD C. DEFOE, M.D. Department of Pediatrics, University of Minnesota Minneapolis, Minnesota
REFERENCES
1. Cheek, D. B., Malinek, NI., and Frallon, J. M.: Plasma adrenalin and noradrenalin in the neonatal period, and infants with respiratory distress syndrome placental insufficiency.
PEDI-ATRICS, 31:374, 1963.
2. Zileli, M. S., Hamlin, J. F., Reuter, F. W., and Friend, D. C. : Evaluation of catecholamine levels in renal insufficiency. I. Clin. Invest., 37:409, 1958.
3. Bygdeman, S., and von Euler, U. S. : The effect of respiratory acidosis upon the peripheral vascular reactivity to noradrenaline in cat. Acta. Phys. Scand., 54:138, 1962.
4. Burn, J. H., and Rand, M. J.: Acetvlcholine in adrenergic transmission. Ann. Rev. of Pharmacol., Vol. 5, 163, 1965.
The Pediatrician and Indian Health
