THREE CASES OF AMAUROTIC 
FAMILY IDIOCY 
BY 
A. Jacobi, m.d., 11.d., 
NEWYORK. THREE CASES OF AMAUROTIC FAMILY IDIOCY.* 
A. JACOBI, M.D., LL.D., 
New York. 
Sigm. Freud (Nothnagel Spec. Pathol, u. Therap., Vol. ix., 
2d Part, 2d Division, Page 255), in a special chapter of his work 
on infantile cerebral paralysis, discusses the family and hereditary 
forms of the latter affection. They differ in this, that sometimes 
more than one case will make its appearance in a single gener- 
ation; in other instances, subsequent generations may exhibit the 
very identical or similar morbid processes. He feels justified in 
proposing the following classification of all the cases which may 
come under this head: 
Ist. Cerebral paralysis may occur in more than one member 
of a family. The cases are identical or similar in different per- 
sons and stages. Strabismus or spastic hemiplegia may be met 
with. 
2d. Typical diplegise are met with in the same family or in 
consecutive families. 
3d. Such cases as may be observed under the same circum- 
stances, and may be defined as typical diplegia, though they 
differ from it to a certain extent. 
4th. Such family disorders of infancy as are markedly dif- 
ferent from infantile cerebral paralysis. 
Feeble intellects, with progressive muscular atrophy, were 
met with by Hofmann in four brothers and sisters; atrophic 
bulbar paralysis has been observed in families, and under here- 
ditary influences; relapses of spinal paralysis—after recovery 
was complete—have, also been noticed. Then there are the 
various forms of Little’s disease—that is, paralytic conditions 
dating from protracted labors. There is Friedreich’s disease. 
sth. The family—or hereditary—affections of later life. 
*Read before the American Pediatric Society, Cincinnati. June 2, iBqB. Jacobi: Three Cases of Amaurotic Family Idiocy. 
2 
with tremor, oscillating gait, which is not influenced by closing 
the eyes, with nystagmus, and slow and monotonous articulation, 
but with no spasm, with extinction of patellar reflexes, with 
little disturbance of sensation, and with deformed foot and 
scoliotic spine; finally Marie’s “ heredo-ataxie cerebelleuse,” 
also (like the former) with tremor, oscillating gait, which is not 
influenced by closing the eyes, with nystagmus, and slow and 
monotonous articulation; but (to distinguish it from Friedreich’s 
disease) with no deformities, increased reflexes, occasional con- 
tractions, and more disturbed sensation and affection of the eye 
muscles. All of these show the possible varieties, differences 
and degrees. In only a few the anatomical diagnosis can be 
made so correctly, as, for instance, in Friedreich’s disease, which 
consists in a degeneration of the long spinal nerves and in small- 
ness of the cord; or that of Marie’s, in which the cerebellum is 
found to be reduced in size. 
Under No. 2 Freud subsumes the cases of amaurotic family 
idiocy—a preliminary title given by Dr. B. Sachs, of New York, to 
a limited number of cases of a peculiar nature, which will be 
described hereafter. It appears to me that the classification of 
Dr. Freud is too indefinite to be accepted. If anything, it shows 
that the varieties, anomalies and alterations, both anatomical 
and clinical, in morbid conditions of the nervous system, which, 
result in or are complicated with idiocy, are too manifold, or, 
in many cases, too closely related to each other to permit of 
iron-clad boundary lines. 
“Amaurotic family idiocy ” is certainly exceptional in this 
respect, that it permits of a ready clinical diagnosis. Whether 
the anatomical lesions underlying all the cases, or their embry- 
ological development are identical, remains to be seen. 
Dora R. was presented at my college clinic four months ago. 
Through a mistake of mine, or that of an assistant—certainly 
not through that of the gentleman who examined her eyes for 
him—l gained the impression that the retina showed either a 
plain bilateral hemorrhage or a bilateral glioma. The brief ex- 
hibition of the infant before my class, undertaken without further 
examination and without a history, was made for the sole pur- 
pose of presenting what 1 thought to be a fair illustration of 
Locke’s dictum: Nihil est in intellectu quod non antea fuerit in 
sensu, “the road to intellect goes through the senses.” It ap- 
peared to me that the defective intellectual development of the Jacobi; Three Cases of Amaurotic Family Idiocy. 
3 
child might be due to her increasing blindness and to the cor- 
responding lack of sensory food. When, however, the defective 
muscular innervation was noticed, and when Dr. Gruening saw 
the child and corrected my erroneous opinion in regard to the 
condition of the retina, the case looked different. 
She was one year old, and the fourth child of healthy, not 
neurotic, not syphilitic, not alcoholic, Semitic parents. No 
hereditary taint known. Their first child was six, the second 
four, the third three years old; all were in perfect health. Labor 
was easy; no asphyxia; no convulsion. Infant was nursed by 
her mother until the present time, with the exception of addi- 
tional meat-soup and oatmeal decoctions during the last month; 
was considered normal by the mother during the first few 
months; she did not remember, however, when the baby smiled 
the first time. The first tooth, a lower incisor, appeared at ten 
months; three upper came since; four more teeth were protrud- 
ing. The fontanelle was about to close; no pulsation was felt 
through it. Circumference of the head, centim.; forehead 
rather narrow. 
The infant never was able to sit alone or to hold up her head. 
When she was seven months old she did not notice so much or 
play so well as formerly; gave but little attention, cried but 
seldom, and slept a great deal. Some months ago spastic con- 
traction of the upper extremities was observed repeatedly. 
Mother believed that during these last three months the infant 
noticed more, again. She felt certain that her eyes followed a 
light occasionally, and, at times, persons. 
But her intellect was feeble when presented; she did not ap- 
pear to notice, and she did not smile, except occasionally, in a 
listless manner. There were rhachitical curvatures with con- 
vexity outwards; the epiphyses of the radius and ulna were 
rather enlarged, but other symptoms of rickets were absent. 
There was no Harrison’s groove, there was no excessive per- 
spiration, and no falling out of hair on the occiput. The fontan- 
elle has been mentioned as nearly closed, rather earlier than usual; 
but there was no hyperostosis nor anything pointing to prema- 
ture ossification; no constipation. I mention the latter circum- 
stance because the involuntary muscles, so often and badly 
affected in rhachitis, did not suffer here like the voluntary. 
These, all ovefthe body, were flabby and inactive. Her motions 
were listless; her head found no muscular support; muscular 4 
Jacobi; Three Cases of Amaurotic Family Idiocy. 
contraction under the influence of electricity was insufficient. 
The response to faradic irritation was diminished and quite 
slow; a rather strong current exhibited a contraction after from 
one to two seconds only. Galvanic irritability was also dimin- 
ished, to a certain extent the lower extremities, much more so 
the upper; decided reaction of degeneration. Patella reflexes 
weje rather normal, perhaps a little exaggerated; no ancle 
clonus. There was some slight dulness (normal) over the manu- 
brium sterni. Thyroid seemed normal in extent and consistency. 
Pupils did not, or but very slightly, respond to light, either 
direct or reflected; no nystagmus, no strabismus, no convul- 
sions; heart, lungs and kidneys were normal. The shape and 
consistency of the eye were normal. There was a white patch 
with a red centre, instead of the macula lutea and beyond it; in 
its centre was a depressed spot. The optic disk was pale and 
gray. 
This degeneration is the same which has been described in 
all the cases hitherto observed, the first time by WarenTay and 
Kingdon (in the former’s first cases) as early as 1881.* The 
fundus was found normal until after the third month; it was 
then that the first haziness began to show itself in the macular 
region. The condition became worse about the fifth and sixth 
months, while vision grew worse gradually, until total blind- 
ness set in. 
Second Case.—Lina K. was presented in my office on the 
23d day of September, 1897. Father and mother were each 
twenty-six years of age, both of the Semitic race, and emigrated 
from Russian Poland. They had another girl that died at the 
age of one-and-a-half years, two years previously. She never 
was strong enough to sit up or to hold her head. She was 
nursed until she was fourteen months old. At that time she 
had her first tooth; four when she died. She had her first con- 
vulsion with nine months. During the attack she appeared 
to be breathless; the eyes were turned up; other spasms 
occurred several times a day, both m the upper and lower ex- 
tremities until she died. The face began to participate in these 
"“Since the subject has been discussed, amongst others, by Goldzieher, 
Magnus and Knapp in 1885; by Wadsworth in 1887; by Sachs in 1887, 1896 
and 1898; by Hirschberg in 1888; by Kingdon in 1892; by Carter in 1894, and 
lately by E. C. Kingdon and J. S. Risien Russell in the (1897) eightieth 
volume of the Med. Chir. Trans. (“ Infantile Cerebral Degeneration with 
Symmetrical Changes at the Macula ”). J acobi ; Three Cases of«Amaurotic Family Idiocy. 
5 
attacks when she was fifteen months old. When Lina K., was 
first presented, there were no very prominent symptoms, except 
listlessness and muscular weakness; no convulsions. The eyes 
certainly followed the watch. The erroneous diagnosis of 
rhachitical feebleness, “pseudo-paralysis,” was made, and elixir 
of phosphorus and the syrup of iodide of iron were ordered. 
On February 23d she was next seen in my service at the Van- 
derbilt Clinic when fourteen months old. She still appeared to 
follow the watch, sometimes listlessly; her hearing was good; 
the repeater near her ear made her start, and dilated the rather 
large pupils. The eyes were mostly turned upwards; the head 
hung back; muscular action was very slow everywhere; she 
never held anything in her hands. The bowels were costive, 
and moved hard and sluggishly only once in two days, after 
enemata. The left leg required a continuous current of 3, the 
right of 7Y-z milliamperes for muscular contraction; the inter- 
rupted current had to be quite strong to accomplish that. There 
was no reaction of degeneration. For several months past she 
had convulsions in both arms, hands, legs and feet; convulsions 
and apnoea appeared to come together with pallor; the attack 
lasted “ a few minutes,” and occurred first but three or four 
times a week, but lately as many times during the day; also in 
the night. Some were accompanied with laryngismus stridulus; 
if they were tonic, they were followed by a tearless cry. The 
mother said the infant smiled when talked to, an assertion which 
could not be verified. Respiration was shallow, pulse 132 and 
regular. Fontanelle was still open. When the mouth was 
opened, its right angle was slightly drawn up. The character- 
istic change of the retina and macula lutea were looked after, 
and found by Dr. J. Herbert Claiborne. 
A brother of the above patient was, at my request, sent to 
me by Dr. John Huber. He was then four weeks old, May 28, 
1898, Dr. R. O. Born examined the eyes for me on the same 
day, and reported them to be normal, so far. 
Third Case.—G., female, was sent by Dr. Michaelis on April 
19, 1898, She was born July 30th, 1897, after a normal labor, and 
with only a moment’s “suspended animation.” She was breast- 
fed. Two months ago, so the mother reported, the infant could 
not yet sit up. The only apparent disturbance of her health was 
a bronchitis from which she had suffered six weeks ago. Re- 
flexes were normal; pupils of normal infant size (rather large) 6 
Jacobi: Three Cases of Family Idiocy. 
and equal; intellect and muscles certainly feeble. The parents 
—Semitic—had been married seven years before this first child 
was born. No miscarriages, no syphilis, some tuberculosis in 
the father’s family. Dr. R. O. Born, whom I requested to ex- 
amine the eyes for me, reported the presence of the characteristic 
change in the macula lutea, with no atrophy of the fundus as 
yet. 
While these cases are presented, they are not expected to be 
utilized for a lengthy review of the subject; for there is a very 
concise story of what is known of the subject by Dr. Sachs in 
the third number of the D. Med. Woch. of this year. Inclusive 
of Waren Tay’s first three cases, all occurring in the same 
family, and terminating fatally before the end of the second year, 
altogether twenty-seven have been published. In all of them 
there were the same symmetrical changes in the macula lutea, 
vf.: the white, somewhat spherical spot, with a brownish red 
centre, similar to what is seen in embolism of the central artery, 
with gradual atrophy of the papillae, which, in 1885, were studied 
in our country by Knapp and by Wadsworth; the same lack of 
innervation as shown by weakness of intellect and of muscles, 
the same connection first pointed out by Kingdon (Trans. Ophth. 
So., xii.) of the intellectual deficiency with the characteristic eye 
changes, and the slow but sure increase of the symptoms. It mat- 
ters little, and depends greatly on the individual powers or op- 
portunities to observe the progress of such a case, whether there 
is a little more or less rolling of the eye, or increasing indolence, 
or reflex anomalies. The general progress and the end have 
been the same, vi%.: the blindness and idiocy became complete, 
nutrition was impaired (marasmus is often mentioned), and a 
fatal termination completed the history of the cases before the 
end of the second year. Dr. B. Sachs observed a single case up 
to the sixth year. In another single case Roller found the eye 
symptoms to be rather late compared with the intellectual defects, 
and Higier the retinal atrophy more pronounced than the spot 
on the macula lutea. 
In one of the three cases described by Kingdon and Russell 
in the eightieth volume of the Med. Chir. Trans, of 1897 there 
was a marked adductor spasm of the lower extremities; in 
another various distortions by the overaction of muscles, and 
overextension at the right knee. Such variations—even the oc- J acobi ; Three Cases of tAmaurotic Family Idiocy. 
7 
casional aural disturbances from hyperacusis to dull hearing— 
establish no essential difference in the general symptomatology.* 
Our anatomical knowledge of the pathological changes un- 
derlying these uniform vital changes left, until a short time ago, 
and still leaves, much to be desired. In one of the four older 
autopsies the arachnoid and pia were found thickened, the 
cortex hard, the cerebral fissures strongly marked, the sulcus 
Rolando and the fissure of Sylvius confluent (always a low form 
of development), and the island of Reil uncovered. The pyra- 
mid cells were but rarely normal, both lateral columns have been 
found degenerated. In one of the three cases lately described 
by Kingdon and Russell there was an extensive apparent scle- 
rosis of the pyramidal tracts, and in the pons, the medulla, 
and the spinal cord. They suggest that possibly many of the 
pyramidal fibres may never been myelinated, f Moreover the 
anomalies of the brain and the cord are not contiguous; indeed 
just as little so, as for instance, in a disseminated sclerosis in 
which pons and the upper part of the cord maybe quite normal, 
while there are similar and cotemporaneous changes in the 
cerebrum above and the cord below. In H. Higier’s case 
(quoted from Deutsche Z. f. Nervenheilk, x., 1897), which 
occurred in a family in which two infants had previously died 
from probably the same condition, there was thickening 
of the retina in the area of the macula, excavation of the 
papillae and atrophy of the optic nerve fibres. There was no 
vascular disease or inflammatory process; but atrophy of the 
cortical pyramid cells, descending degeneration of the whole 
pyramidal tract, and degeneration of the motor root of the 
trifacial nerve and of the pedunculi cerebelli. 
The chiasma was found normal. The blood-vessels were 
also found normal, and there were no evidences, we are told, of 
anything like an “inflammation,” at least, such as could be 
traced to the blood-vessels. 
Now, what is the morbid process underlying the progressive, 
intellectual and physical change and decline ? A mere arrest of 
development in early embryonal life, which has not been 
* The internal ear does not suffer, or seldom suffers, in this disease. 
It is developed from the outer ectoderm, while both retina and optic nerve 
are, like the brain, from the medullary tube of the ectoderm. 
f In all of their cases the cerebellum presented no evidence of degener- 
ation or other change in the cells of Purkinje or those of the corpus den- 
tatum. 8 
Jacobi: Three Cases of tAmaur otic Family Idiocy. 
proven, but presumed to exist by Dr. Sachs, cannot cause a 
progressive change such as is illustrated by the increase of idiocy 
and paralysis, and of the visible gradual alterations of the retina 
in a child that at first appeared normal. 
The optic tissue consists primarily of radiated spindle- 
shaped cells which resemble the spindle-shaped cells primarily 
found in the early stages of the brain. 
The suggestion is justified that the normal and the abnormal 
development of these spindle-shaped cells may go on pari passu, 
both in the embryonal eye and in the embryonal brain. Em- 
bryologists and histologists will perhaps elucidate the connection 
existing between the degenerative processes—which possibly 
is of an inflammatory nature originally—in cases like ours, and 
the accompanying ocular cerebral and spinal defects. To 
speak indiscriminately of a degenerative process pure and simple, 
without inflammation, either acute or chronic, is a questionable 
procedure as long as we are not certain or unanimous as to the 
essential requirements or character of “inflammation.” More- 
over it should be remembered, that in several instances, sclerotic 
processes, frequently the results of known inflammatory pro- 
cesses, are claimed for the cerebellum and other parts. 
In connection with the definition of “inflammation,” I sug- 
gest the following extracts from two sources: We read in Dela- 
field and Prudden, a hand-book of pathological anatomy and 
histology, sth Ed., 1896, p. 107: “The phenomena which are 
embraced under the name of inflammation are: degeneration 
and death of tissue; changes in the circulation of the blood; 
escape of the elements of the blood from the vessels; formation 
of new cells and new tissue. These morbid changes either occur 
separately or are combined in various ways. The growth of the 
body of pathogenic micro-organisms and the formation by them 
of toxic substances is a frequent inciting cause of inflamma- 
tion;” and in E. Ziegler Lehrb d. Allg. Pathol u. d. Pathol. 
Anatomie, 9th Ed., 1898, 1., p. 322, as follows (translated): “In- 
flammation may be caused by mechanical, thermic, electric or 
chemical influences, or by parasites. All these noxae have this in 
common, that they produce a local degeneration of tissue, which 
—when it is extensive or intense—is combined with disorders 
of circulation and of vascular secretion.” (Italics mine—A. J.) 
The latter, therefore, should not be expected in every form or 
case of “inflammation,” and to speak of degeneration in contra- Jacobi: Three Cases of Amaurotic Family Idiocy. 
9 
distinction to inflammation is rather a hazardous procedure in 
many instances. 
The causes of an inflammation are not specific at all. Any 
noxa or injury may produce it, provided it be sufficiently in- 
tense to cause both degeneration of tissue and certain disor- 
ders of circulation, without producing complete interruption of 
circulation and necrosis of the tissues. The rapid physiological 
evolution of the spindle-shaped cells composing at that early 
period, both the optic tissue and the cerebrum furnishes the 
possibility of pathological alterations. Developmental over- 
activity in the embryo and foetus may be looked upon from the 
same point of view as post-natal functional over-activity. The 
pathological anatomy of the newly-born heart or of the rha- 
chitic bone or of the over-exerted muscle of young or old 
prove the close proximity of physiological and pathological con- 
ditions. That is why I cannot divest my mind from suppos- 
ing that the degeneration which has been described as common 
to the few autopsies of such cases as ours was originally of an 
inflammatory character. Though it should be remembered, 
that there may be extensive cell degenerations without marked 
disorders of circulation, resulting for instance from the influence 
of toxins. 
The thickening of arachnoid and pia and the hardness of the 
cerebral substances noted in one of the autopsies hitherto made, 
appears to point in that direction. It appears not unreasonable 
to suppose that the same inflammatory (proliferative, hyperplas- 
tic and by and by perhaps finally cicatrizing) process takes place 
in the macula lutea, or what is to become macula lutea.* Its 
late development would explain why (while undoubtedly the 
anatomical conditions of idiocy may be nearly developed at 
birth, the alterations of the macula lutea are discovered late; 
* Macula lutea is absent from the embryonal retina ; even from that of 
the newly-born. According to Huschke and other older authors it is a 
remnant of the ocular fissure; in the opinion of many the fovea centralis rep- 
resents the upper remnant of the retinal fissure. Wurzburg states that the 
formation of the macula lutea is preceded by a duplicature—a fold of the 
retina; still, these duplicatures are met with in several parts of the retina. 
At the very spot where the fibres of the optic nerves enter in later stages, 
the interior of the eye, there is, according to Bergmeister, a layer of 
cylindrical cells during embryonal life. Here the edges of the coloboma 
are turned up and rarefied, while in the rest of the eye the margins join one 
another. In this way the physiological excavation is formed. 
S. L, Schenck, Lehrbuch der Embryologie des Menschen and der Wirbelihiere, 
Wien, 1896, 2d Ed., p. 187. Jacobi: Three Cases of tAmaurotic Family Idiocy. 
why they gradually get more pronounced and more destructive; 
and why they need not always—as instanced in Roller’s case— 
appear at a regulation time. 
The child whose case was discussed before the annual 
meeting of the American Neurological Association of 1898, 
by Dr. F. Peterson, was born of a German mother twenty- 
eight years old, the father being a Russian, twenty-nine years 
old, both of the Semitic race. Their first child is seven years 
old and normal, the second is an idiot of five and one- 
half years of age that became blind at six months, the 
third is a normal child of four years, the fourth was observed 
to be blind when four weeks old and died idiotic at ten 
months of age, the fifth died at the Randall’s Island institution 
when seven months and twenty days old with the symp- 
toms of amaurotic idiocy. It was said to have played and 
laughed up to the third or fourth month. There were measles 
at five months, followed by diarrhoea; the media of the eyes 
were clear, the pupils equal and somewhat dilated (normal ?). 
There was no tremor, but gradually a rotatory and up and down 
ocular spasm was noticed, the neck and knees became rigid, 
the surface exhibited some purpuric spots, and the child died. 
The autopsy was made by Drs. McAlpin and Ewing. The 
lungs showed broncho-pneumonia; the kidneys were con- 
gested; the other viscera were all normal; the liver showed 
some fatty infiltration; the brain weighed 22 ounces; its 
surface was oedematous. The condition of the two halves 
was identical. The cortex was deficient in cells, all of them 
were of minute size and moderately deficient in chromatic sub- 
stance. The same condition was noticed in the motor areas. 
In the cervical cord the cells of the anterior horns were normal, 
below this normal region they were less in number and 
shrunken; the cells of the olives normal and abundant, of the 
corpora quadrigemina and geniculata less and small, those of 
the sympathetic ganglia of the aorta of the spinal tract, and of 
the optic nerve and chiasma, normal; and the connective tissue 
rather deficient in the brain, but not so in the spinal cord. 
While in the normal infant brain the cells are arranged in dis- 
tinct vertebral and longitudinal columns, almost all the verte- 
bral columns were missing, while the longitudinal rows were 
indistinct. Dr. James Ewing characterized the main features of Jacobi: Three Cases of Amaurotic Family Idiocy. 
11 
the specimen as small size and small number of cells, and in- 
creased number of blood-vessels. 
In the discussion following the report of this case Dr. Ward 
O. Holden who had examined the eyes, stated that vacuolation 
was found in the ganglion cells of the eyes, but the nuclei were 
not granular and the nucleoli were distinct while Nissl’s granu- 
les were present in the cell bodies. There were no thorough 
changes. Moreover he stated that the results of the autopsy 
might be incorrect because it had been made forty hours after 
death. As an instance of the import oipost-mortem changes he 
related that bacteria coli were found in the blood-vsssels, and 
from his remarks it seemed as if the diagnosis of amaurotic 
family idiocy might be doubted. 
In the same meeting Dr. Wm, Hirsch detailed a case, the 
history of which was accompanied with extensive and elaborate 
demonstrations. There is no report which excels it in com- 
pleteness and accuracy.* L. P. was seen first in July, 1896, 
when ten months old. It developed fairly until it was six 
months old. The mother, who lost two children when they 
were eighteen and twenty months old, respectively, reported 
that the child then became weaker and the muscles flabby. At 
that time there was some perception of light; reflexes were 
good, viscera normal, and the ophthalmoscopic appearance like 
that described above. It died July 17, 1897, and the autopsy 
was made four hours after death. The dura was adhering, 
the pia normal; there was no fluid and no oedema; no macro- 
scopic anomaly, except a prolongation of the second temporal 
fissure. 
Specimens were hardened in formalin 10 per cent.; one eye 
in formalin, one in Muller’s fluid, and sections made in paraffine. 
Methylene, eosin, or hsematoxylon were employed for staining 
purposes. The pyramidal tracts appeared degenerated as others 
observed them. In the cells of the anterior and posterior columns 
the nuclei were well defined, also the nucleoli; both of them 
were in many instances found near the edges of the cells. The 
cells were large, that is why they appeared too numerous. The 
motor cells were of double size, some apparently without nuclei, 
an impression mostly due to obliquity of section. Very few axis 
* Dr. Hirsch gave me his manuscript to read, and demonstrated to me 
in his laboratory many of his charts and microscopical specimens, and kindly 
gave me some characteristic ones for presentation to the American Pediatric 
Society. His own complete report will undoubtedly appear soon. 12 
Jacobi: Three Cases of Amaurotic Family Idiocy. 
cylinders and dendrites. Pericellular spaces small or absent. 
The nuclei surrounded by a dark zone. Nissl bodies disappear 
entirely in a granular mass. The light area contains a fine net- 
work; few normal chromatic bodies; medulla oblongata is found 
in the same condition, the changes in nuclei and cells are as 
above; in the olivary bodies the nuclei are markedly round; in 
the reticulated they are oval-shaped and pushed to the extreme 
end of the cells. In the cells of the trifacial nerve the nucleoli are 
hardly recognized. In the pericellular lymph spaces there are 
masses of detritus. Subcortical ganglia, thalamus and cortex 
are in the same condition. The pyramidal cells are changed 
and swollen, with displaced nuclei; also Purkinje’s cells of the 
cerebellum. 
The points Dr. Hirsch mainly emphasizes in connection with 
our subject are these: All the nerve cells, as far as examined, 
are changed in a peculiar way. There is chromatolysis and other 
degeneration. The cell bodies are large. The nuclei are dis- 
placed sideways. Neuroglia and blood-vessels are normal. 
Differences in the accounts of previous observers are explaina- 
ble by insufficient methods of hardening or staining; Muller’s 
fluid, for instance, shows the enlargement of the body of the 
cell but not its finer structure. The observed changes are 
pretty universal; there is neither an arrest of development nor a 
localization in the cortex, but as Kingdon and Russell assume, 
an acquired degeneration. 
Where is its cause ? As the infant is in good condition at 
first and the macula normal, the cells should be considered 
normal. No part of the embryonal history explains the future 
illness, which must be acquired. As the blood-vessels are found 
normal the process is not inflammatory(P). No systemic disease 
explains all the cell changes; there is no atrophy. That is why 
Dr. Hirsch believes that the only possible explanation is furnish- 
ed by the presence of a toxic condition, which would cor- 
respond with experimental poisoning, the effects of which on 
the nerve cells, and on general nutrition, are different from 
all other disorders. What is the nature of the toxic substance ? 
Perhaps the examination of the mother’s and the infant’s blood, 
and that of the mother’s milk, will lead to the solution of the 
problem. At all events, Dr. Hirsch feels like weaning such 
infants, or refusing the mother’s breast to any baby whose family 
history prevents cases of the same condition. Jacobi: Three Cases of tAmaur otic Family Idiocy. 
13 
In connection with Dr. Hirsch’s paper the characteristic ap- 
pearance of the macula was made the subject of discussion by 
Dr. Ward O. Holden. He alluded to Treacher Collins, who ex- 
plained the red spots by the thinness of the retina in the fovea 
centralis, while round about there was, in his opinion (which, 
however, he doubted himself), an intense oedema. This al- 
leged oedema is, however, found in the healthy eyes of dead 
persons, and may result from the following of the retina round 
the macula in that condition. The real cause of the red spot 
surrounded by white discoloration is, according to Dr. Holden, 
as follows: In the periphery of the retina where the cells are 
scattered, they are large. In the macular region they are sev- 
eral (6-7) layers deep and mostly small. In the peculiar degen- 
arative process of amaurotic family idiocy these cells are of 
increased (double) size, and their contents dense and turbid. 
Hence the white discoloration. The fovea centralis has no layer 
of ganglion cells—hence the choroid shows through. 
The atrophy of the optic nerve is always observed long after 
the changes in the macula lutea. It develops very gradually. 
According to Roller, the behavior of the children with regard to 
their vision was not normal at a time when no ophthalmoscopic 
changes were visible, so that the conclusion is permissible that 
vision had been impaired by cerebral degeneration. (New York 
TMedical Record, July 9, 1898.) FROM 
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OF 
PEDIATRICS 
A Monthly Journal Devoted to Diseases of 
Infants and Children. 
Edited by 
FLOYD M. CRANDALL, M.D. 
“Pediatrics is the specialty of the 
general practitioner.” 
Volume begins with January. Sub- 
scriptions may begin at any time. 
$3.00 a year in advance. 
E. B. TREAT & CO., Publishers, 
241 =243 West 23d Street, New York.