Presented at Bobs Roberts Hospital, University of Chicago, for the meeting of the American Academy of Pediatrics, October 6, 1955.
1013
Pediatrics
VOLUME 18 DECEMBER 1956 NUMBER 6
AMERICAN
ACADEMY
OF
PEDIATRICS
PROCEEDINGS
CLINICAL
CONFERENCE
A
Case
for
Diagnosis
By Douglas Buchanan, M.D.
University of Chicago
(E.W., 6:3 07 :34) This girl is 8 momiths old. She has a brother 2 years old. Her mother and
father are young amid have had no recognized
illness. Her mother was well after the birth of
her first child in November of 1953. She had
no chamige in weight and mio evidence of
anemia, and took no medicine. Durimig her see-ond pregnancy she had mio feverish illness and
no rash. She believes that the patient moved
imTi utero more than her first child, but with
both children she could feel the movements of the different parts of their bodies. The patient was born at term after a spontaneous onset of
labor. She was delivered head first after 2
hoimrs without anesthetic or sedation. She
l)reathed at once. She had no cyanosis, no
jaundice, and no convulsions.
On the day of her birth her tongue was barge
and protruded, and in the 8 months of her life
it has never been completely within her mouth.
The muscles of her arms and legs were
unusu-ally distinct, not only because of their size, but also because of the lack of fat beneath the skin.
Her skin was thin, and the blood vessels were
easily seen. Her abdomen was distended. There
was a separatiomi between the two necti muscles and the liver was slightly enlarged. These physi-cab peculiarities have not changed or disap-peared.
On examination now at the age of 8 months
the optic discs and the retina in both eyes are
normal. The other cranial nerves are all normal in their action. There is no strabismus or
limita-tion of movement of the eyes in any direction.
The deep reflexes are present, symmetrical,
and brisk. The plantan responses are extensor.
On passive movement hen limbs are stiff and
resistant. Although this child has some of the features of cretinism, there are some signs which are not proper for that diagnosis. The most obvious of these are the enlargement of the muscles, the resistance to passive movement
with brisk deep reflexes, and her normal
under-standing. Her eyes sparkle and follow moving objects and she watches people in a normal
way. She is said to eat properly and not to
sleep unduly. She is not constipated and she has no anemia. She has been given no thyroid substance at any time.
COMMENT: Cretinism was described by
Paracelsus as early as 1603, but myxedema
was first recognized by Gull in 1874,16 and
Ord in 1878.
When Kocher22 studied abnormalities of the
thyroid gland he realized there was sometimes stiffness of the muscles with hypothyroidism.
but he knew that this was uncommon.
The first report of muscular hypertrophy with
cretinism was by Bruck in 1889 when he
en-Fic. 1. (Left) E.\V., age 8 months. Fmc. 2. (Right) E.W., age 8 months.
1014 BUCHANAN - A CASE FOR DIAGNOSIS
largement of the tongue, prominent mrnmscles,
and stiffness of movememit. Her tongue was
op-crated upomi to try to relieve hen difficulty in
swallowing and in breathing but she died. A
necropsy was performed and Bruck came to
the conclusion that the muscle hvpertrophy and
stiffness of movement were related to
abnor-malities of the muscle fibers. The miervous
sys-tem was examined, but only in a superficial
way, and no abnormality was found in the
hemispheres or in the spinal cord.
In a report by Langhans23 there is a
de-scniptiomi of five cretins who had hvpertrophv and stiffness of the muscles.
Dieterlel5 later described a girl of 4 ears similarly affected.
This unusual association of muscle stiffmiess and hypertrophv with biypothvroidlismn was de-scribed in greater dietail by Hoffmanmi amid this
myotomiia with myxedema is often called
Hoff-mann’s syndrome.2#{176}
Ami observatiomi which is related to this prob-1cm was made under entirely different circum-stances by McCarrisomi.25 \Vhile imi the Indian Medical Service lie studied ami isolated region of the Himalayas, and in the Chitrab and Gilgit
valleys found 203 chibdremi who appeared to
AMERICAN ACADEMY OF PEDIATRICS PROCEEDiNGS
CIPtiJIs lliL(l stifffless of their anus audi legs.
Some also had a history of convulsions and of (lefects in hearimig or iii vision. To this small group he gave the descriptive title of miervous
cretimiism. From the photographs and the
de-scription which he gave, these children had
varieties of pyramidal and extrapyramidal rigid-ity rather than changes in the muscle substance,
but it was said that those to whom thyroid was
givemi were relieved of much of their spasticity. Similar reports followed from Crookshank6
and Langmead.24 Both described a few
chil-dren who had cretinism, spaticity and ataxia in
whom thyroid was said to have produced
im-provement.
Later a similar group was described by
Navillc2 who concluded, however, that the
cretinism and the spasticity were not related.
Simice then this association in small infants
of muscle hvpertrophv with muscle stiffness
has beemi periodically reported. Debr#{233}and SemelaigneM described a peculiar boy 10 months old who had a large tongue. His muscles were emibarged, prominent, and stiff, and he was de-scribed as having the appearance of a small
athlete or a wrestler. Nine years later#{176}they
re-ported a similar peculiarity in a girl 2 years
old who had a large tongue, the appearance
of a wrestler, and mental retardation. A third
example was described by them within a year.’#{176}
It was then said that thyroid had produced
much improvement in one of these children.
Her tongue became smaller, mentally she was
much improved, and the stiffness and
hyper-trophy of her muscles were said to have dis-appeared.
Cornelia de Lange has written three reports
about such imifants. The first” refers to three
children who had opisthotonos and
extra-pyramidal rigidity. Pathologic study
demon-strated abnormalities in the basal ganglia and
cavity formation with internal hydrocephalus.
Muscle hypertrophy was not mentioned. The
second paper’2 also described three children,
all of whom died in the first year of life. All
had from the earliest infancy hypertrophy of
the muscles, enlargement of the tongue,
epi-sodes of opisthotonos, and stiffness of their
limbs. The brain, but not the spinal cord, was
examined in one of these infants. There were
a number of congenital anomalies, cavity
for-mation in the central white matter, and
gan-glion cell defect in the corpus stniatum. De
Lange believed that the rigidity was
extra-pyrami(lal and not related! to the mmmscbe fibers,
and that the basic defect was a neuronab
a!)-normality Iii the basal gangha. lii the corpus striatuni the gammglion cell structure was almost
entirely absent. The cavity formation was
re-garded as an artifact in the sense that it was
not related to the pyramidal and extrapyramidal
rigidity. No explanation was given why the
neuronal defect was selected as being related
to the clinical abnormality, amid the cavity
for-mation dismissed as an artifact. The third
re-port13 described two more infants who had
this same clinical peculiarity of enlargement of
the tongue, opisthotonos, and stiffness and
rigidity of the limbs. Both died before the age
of 1 year. In one, examination of the nervous
system revealed a number of congenital
anom-alies including angiomatous malformation of
the frontal lobes, and absence of the splenium
of the corpus callosum. There was
hydro-cephalus and cavity formation in the central
white matter. There was no neuronal deficit in
the corpus striatum, but instead more than the
usual number of ganglion cells in the gbobus
pallidus. To this clinical picture she gave the
title of the wrestler’s syndrome. She believed
it to be related to a congenital defect of the
basal ganglia although in the first example
there was an absence of ganglion cells and in
the second hyperplasia. When the second group
was studied, de Lange discovered the similar
description of Bruck.3 Although he reported no
abnormality in the nervous system, she believed
that this was due only to inadequate
examina-tion.
In recent years, descriptions of infants with
opisthotonos, enlargement of the tongue, and stiffness and hvpertrophy of the muscles have
been given by Darr#{233},7 Carrau,4 Hesser,”
Arana,’ Morano Brandi,2
Cbog, Michaux,#{176} Lecomte.Ramioul,25 and
Marshall.27 These reports varied in accuracy
and detail. Some authors believed that the
wrestler’s syndrome was rebated to
hypothy-roidism and others agreed with the opinion of
de Lange that the basic defect was a neuronal
abnormality in the basal ganglia. Thyroid was
given to some of the infants described, and in
some this was said to produce physical and
in-tellectual improvement. Examination of the
brain in two children disclosed cavity formation
in the white matter, but the descriptions are
short and meager.
1016 BUCHANAN - A CASE FOR DIAGNOSIS
this general group was described by Poncher
and Woodward. He had muscular
hyper-trophy and obvious stiffness of movement. They
believed that this boy had Thomsen’s disease
(myotonia congenita), and apparently did not
recognize any similarity between their patient
and those described by earlier authors. He was
given thyroid in a dose of 3 grains each day
and after some months he was apparently
cured of his stiffmiess of movement and muscle
hypertrophy. Why thyroid was chosen as the
treatment was not explained, but because of
his improvement it was apparently thought by
the authors that thyroid was the appropriate
treatment for Thomsen’s disease. From their
description and the result of treatment with
thyroid, it seems most unlikely that the boy
did have myotonia congenita. The only
reason-able explanation of the result is that he had
hypothyroidism with muscular stiffness and
hypertrophy which appeared in the third year
of his life.
Thomsen7 in the original description of
what is now called myotonia congenita used
the title, “A Tonic Cramp in Voluntary
Mus-des Caused by Inherited Psychotic Disposition
(
Ataxia muscularis?).” It is now known,how-ever, that this tonic reaction of the muscles
is not always present at birth or even disclosed
in childhood for there are unquestioned cases
where the abnormality has appeared for the first
time in adult life. For this, various tifles have
been suggested, such as myotonia acquisita,
myotonia hereditaria tarda, or even the peculiar
neologism of myotonia congenita adultorum.
It is occasionally difficult in an adult to
dis-tinguish between the stiffness of muscle
move-ment rebated to hypothyroidism and the variety
of true myotonic reaction of the muscles which
may appear for the first time after puberty.
Similar difficulty in diagnosis in childhood is
theoretically possible, but Thomsen’s disease in
infancy looks sufficiently remarkable to prevent
confusion with cretinism of any variety.
The whole problem of muscle stiffness with
hypertrophy or with wasting was further
corn-plicated by the recognition of dystrophia myo-tonica. Hoffrnann19 described the wasting which
sometimes comes in Thomsen’s disease as
multi-ple neuritis. Rossolimo36 introduced the title of
myotonia atrophica and gradually the whole
syndrome of gonadal atrophy, alopecia, heart
block, and presenile cataract was unfolded.
Despite the obvious metabolic changes which
occur in this variety of Thomsen’s disease, there
is no evidence that thyroid resolves them iii any
way.
Entirely separate and apparently unrelated reports in the past few years introduce further
complication and add another possibility to
the pathogenesis of the wrestler’s syndrome.
Innes2’ studied the pathologic changes in the
animal disease, swayback. This affects sheep
and lambs and produces pyramidal rigidity,
ir-regular movements, opisthotonos, and
hyper-trophy and stiffness of the muscles. In the brain
he found demyelinatiomi and cavity formation
in the central white matter.
A similar clinical picture and a similar patho-logic picture were described by Winkelman and
Moore38 in an infant who died at the age of
3 months. Lumsden26 described similar changes
under the title, “Multiple Cystic Softening of
the Brain in the Newborn.” There were
similari-ties in the clinical picture and in the pathologic
changes in these reports to the description of
the wrestler’s syndrome by de Lange. The
pathologic similarity is in the cavity formation
in the central white matter, that pant of the
pathologic changes which she dismissed as
artifact. Despite this similarity there is, of
course, no evidence that the pathogenesis is
the same in all.
CONCLUSION: The girl presented has
muscu-Ian hypentrophy, rigidity on passive movement
of her limbs, and enlargement of the tongue
and of the abdomen. She is alert and her eyes
are bright although she cannot sit alone.
The diagnosis cannot be made with certainty
at this time. If there is cavity formation in the
central white matter of the brain and neuronal
abnormalities, no treatment is available and
no clinical improvement seems possible.
Meta-bolic studies with radioactive iodine (1-131)
revealed some hypothyroidism, but less than
would be expected in true cretinism. Despite
this, there seems no reason to deny thyroid
treatment to this child. As the diagnosis is not
certain and seems unlikely to be revealed for
many months, the descriptive title of the
wres-tier’s syndrome seems proper.
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