PROGEROID SYNDROME

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413

PROGEROID

SYNDROME

Report

of

a Case

of

Pseudo-Senilism

By Herbert J. Grossman, M.D.,* Samuel Pruzansky, D.D.S., and Ira M. Rosenthal, MD,

INTRODUCTION

C

l1AllArEBISTICS suggestive of senility

have been reported in children in

association with dwarfism, microcephaly

and mental retardation. The few cases in

the literature with these characteristics vary

considerably and do not constitute a specific

disease.i Tile term “progeroid” syndrome

has been used to apply to these cases. This

term, originally suggested by Garter, calls

attention to the appearance in childhood of

characteristics suggestive of senility, but

differentiates these cases from progeria

(Hutchinson-Gilford syndrome).4’

Tile peculiar senile appearance of

chil-dren with the progeroid syndrome is due

in our opinion, to a disturbance of growth

rather than to premature aging. We wish to

report an atypical case classified by us as a

progeroid syndrome in which this is

illus-trated. This child differs greatly from those

previously described, in that her growth

disturbance was so severe that by the age of

6 years sile had only attained a weight of

3640 gm. (8 lb.) and a length of 66.5 cm.

(26 in.).

History

CASE

REPORT

L. N. was admitted to the Research and

Educational Hospital of the University of

Illi-nois on February 10, 1948, at the age of 11

weeks because of her failure to gain and grow

normally and because of her peculiar

appear-ance. She remained in this hospital for the next 6 years of her life.

Although the gestation was reported to be

full-term, the patient, born on November 14, From the Department of Pediatrics and the Cleft

Palate Center of the University of Illinois College

of Medicine.

(Submitted for publication September 24, 1954;

revision accepted December 28, 1954.)

#{176}ADDRESS: 1819 West Polk Street, Chicago 12,

Illinois.

1947, weighed only 2 lb. 9 oz. (1165 gm.) at

birth. The delivery was otherwise normal, and

the baby breathed spontaneously. During the

third month of her pregnancy the mother had

contracted mumps but had made an apparently

good recovery. The patient has 4 older siblings

who are normal. The family is of Scandinavian

extraction, and no child similar to the patient

has been born in previous generations, as far

as is known. The child was fed Similac#{174} which

was taken eagerly in amounts ordinarily

con-sistent with good weight gain and growth.

Physical Examination

On admission to the hospital, physical

cx-amination revealed a small, active white female

child with an unusually small head and a

wizened facial expression. Her nose appeared

long in comparison to her face which was small

and narrow. Her weight was 1870 gm. (4 lb.

3 oz.), her length 43 cm.

(

16.7 in), her head

circumference 24.5 cm. (9.3 in.), and her chest

circumference 25 cm. (9.8 in.), The heart was

normal, lung fields were clear to percussion

and ascultation, liver and spleen were not

palpable, genitalia were normal female, and

extremities were small but otherwise normal.

There appeared to be a normal infantile

dis-tribution of body fat.

Course

During her 6-year hospital stay, the child

grew slowly, gaining little weight despite the

fact that, except for periods of infection, she

seemed to eat well. Solid foods started soon

after she entered the hospital were taken well.

The patient, however, continued to eat pureed

foods and to drink from a bottle during her

entire hospital stay.

By the age of 1 year, the patient weighed

2940 gm. (5 lb. 8 oz.) and was 47 cm. (18.5 in.)

in length (Fig. 1). By the age of 2 years she

weighed 3400 gm.

(7

lb. 8 oz.) and was 60 cm.

(23.5 in.) in length. At the time of her

dis-charge at the age of 6 years, she weighed 3630

gm. (8 lb.) and was 66.6 cm. (26 in.) in

length. The pattern of her growth in weight

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fant, i)1lt it decreased as the patient became older, so that at the age of 6, she had little

stIl)CutalleoUs fat. Crovth of lvinplioid tissue

\vas considerably (lilninishe(l during the 1’riod of observation, and at no time was there any

lynpIiadenopathy.

The child’s behavioral deveh)1)meflt VdS evaluated by Gesell standards. At the age of 16

weeks, she was dl)Ie to sit with some Sup)rt,

sustain soiie of her weight on her feet and

attell11)t steps vhen held erect. She was able to follow a moving 1ersoi vith 11cr eveS, regard

a 1)ellet anil grasp a dangling ring. B 21 weeks

of age, she was able to sit erect momentarily

dIl(l sustain her full weight on her feet. She regarded her image in a mirror with interest,

SIflile(1 frequently and could hold a cul)e for a short time. By the age of 9 iriontlis, she still

(‘0111(1 not sit alone more than nioiiientarily. She

vas able to al)l)roach and grasp a l)ell, a cube and a rattle. By the age of 17 months, she was al)le to pull herself to a sitting position, walk

FIG. 1. Left: Patient at the age of I year. Rig/it: if both hands were held, cruise at the crib

Norlilti iiifiiit of’ () iioiitlis. railing, and bring a rattle to her mouth. She

frequently giggled and squealed. By tile age

l)ltterlS of her growth increiients in Figure 3. of 27 months, she was able to walk with 1 hand The amoittit and (listrii)Utiou of the subcutaiie- held, remove a cube from a cup, wave and OIlS tissue as siniilar to that of a noriiial in- shake a 1)ell, reach out and pat her mirror

20

I10

00

90

I 2 LN 6 301L111I

A

Ageinyeors

B

Agilnyi#{248}rs

Fic. 2. A (Left): Graph of patient’s weight gain. B (Right):Graph of Patients growth in length.

Measurements are compared to :3rd and 50th percentile adapted from Anthropometric Chart of the

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:::: Incriment in weight normd girl

Increment in potient

A

E

6

-J image, l)ite and chew toss, grunt and say

“n-mini. “ By the age of 5 years, she could pull herself to her feet at a railing, support her

weight with 1 hand held, bounce and jump.

She mouthed dlll)es, and wa able to hold a cracker. She was not able to say any words

tIUI still did not appear to understand anvthing

said to her.

It is evident

that

the child’s early motor

(Ievelopment, adaptive development and per-sonal-social development to the age of 27 weeks tppracIsed that of a normal child, although

her language development lagged even at that time. After the age of 27 weeks, she made poor

rogress until the age of 2% years. There was little development after this.

1)uring her stay ill the hospital the child had several respiratory infections, most of which,

l)emg bacterial in origin, responded to anti-biotic therapy. In 1951, she contracted pertus-sis despite previous imillilnization and

recov-ered after a fairly severe illness. During the

last

year of her hospital stay she contracted fewer infections than previousI.

Laboratory Findings

Numerous laboratory tests were performed,

5011W of which are reported below. Blood

counts were normal except (luring some periods of infection when leukocytosis was present.

Numerous urinalyses were normal. In 1948,

serum calcium was 8.6 mg./100 ml., blood cholesterol 200 mg./100 ml., serum sodium

158 mEq. ‘I., ascorbic acid 1.24 mg./ 100 ml.

A glucose tolerance test gave the following

results: fasting, 104 mg./ 100 ml.; % hour, 96 mg.; 1 hour, 119 mg., and 2 hours, 103 mg

Twenty-four-hour urinary 1 7-ketosteroid

excre-tion was 0.04 mg. III 1953, radio-iodine up-take iw the thyroid gland at 24 hours after the

ingestion of a tracer dose of 10 microcuries was

:30 per cent of the administered dose, which is

in the normal range. A serum lipoprotein de-termination was clone on August 21, 1953. This test was performed by the Institute of

Medical Physics, Belmont, California.

Stand-ard Sf 0-12 was 378 mg.,/100 ml., and

stand-ard Sf 12-400 was 61 mg./100 ml. The

athero-genie index was 48, which, according to

Cof-man et a!.,’ is not in the range in which

arterio-sclerosis usually develops. Several

electrocardi-ograms revealed no abnormalities.

Numerous roentgenograms were taken. Skull

films in 1948 showed a very small skull with a

0

LN.No LPt

infmoho,, Inct.o_

B

06mox Ssnosayr 23 3-4 4-5 5-6 Ysors

Fic. 3. A (Upper): \Veight increments of patient

compare(l to normal. B (Lower) : Length

mere-ments of patient compared to normal. Solid bar represents increments of patient. I)otted l)ar repre-sents increments of female child in 50th

l’-centile adapted from Anthropometric Chart of the

Children’s Medical Center, Boston.

normal sella. Roentgenograms taken on March 27, 1953, at the age of 5 years, revealed a bone age of 2% years. The long bones were

small and there was no roentgenographic evi-dence of arthritis. A pneumoencephalogram in

1953 revealed a ventricular system which was small but not otherwise abnormal. Growth of the head was evaluated by means of serial

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was 3630 gm. (8 lb.), her length was 66.6 cm. (26 in.), her head circumference 31.5 cm., chest circumference 34 cm. and her crown-rump measurement 32 cm. The small size of

her head, the slightly faded light brown straight hair, the prominent beak like flOSC

and the atrophic appearance of 11cr jaws gave the impression of a tin old woman. The lack of subcutaneous tissue and the markedly

under-developed musculature contributed to the pie-ture. The child was able to sit alone, to stand

and to walk witil some help. She usually sat quietly in her crib rocking herself or playing

with simple toys. She frequently ground her teeth. She responded ill friendly fashion to people but she did not appear to recognize

anyone.

CEPHALOMETRIC STUDIES

Fn. 4. L(?f: Patient at age 5 ears. Right:

Cliikl with vitamin I) resistant rickets, age 5 years,

falling us the tenth percentile for height.

cases, tile results of these findings and their significance are given in detail in a special

section of this paper.

Several electroencephalograms were clone

during the j)eriod of iiospitalization using a monopolar recording on a Grass 8 channel

nlaclline. A tracing in September, 1948, was

considered normal for tile patients age reveal-ing a predominant frequency of 4 per second

activity and spontaneous sleep frequencies which were normal without focal abnormalities or seizure discharges. A tracing in June, 1949,

showed 5 to 6 per second activity in all leads with a poor response to loud noises but was otherwise normal. Another tracing in June,

1950, was also normal. In August, 1951, the electroencephalogram showed 6 per second

activity ill all leads, a slow wave focus ill the

left occipital area, reduced spindles in the left

ptrietal region in seconal induced sleep and

no seizure discharges.

Outcome

At tile time of her discharge on October 14,

1953, the child, then 6 s’ears oki, presented a

most bizarre appearance (Fig. 4). Her weight

Cephalometric roentgenography affords a

quantitatively accurate method for

measur-ing growth of the head in the living. Tile

technic was devised and described by

BroadbentT and the history of its

applica-tions in research has been reviewed by

Brodie.8 Serial cephalornetric films of this

patient were obtained in order to compare

the behavior of tile “progeroid” growth of

this patient with previously descril)edl

pat-terns of normal1’ ‘#{176}and abnormal1’ growth of the head. This report is based on a series

of films taken from the time of adhhissiOll to

the hospital to the age of 5 years.

The tracing of the first lateral

cephalo-metric film obtained at the age of 2 months

and 16 days was compared with a similar

tracing of the head of a normal infant, age

1

month

and 6 days, and certain differences

as well as similarities were observed (Fig.

5b). The differences were both quantitative

and qualitative in nature. Most obvious was

the markedly smaller head of our progeroid

infant. Both tile neurocraniunl and tile face

appeared to be equally reduced in size. The

anterior fontanelle was much smaller in our

progeroid infant and to a degree not

rela-five to the difference in size of the

neuro-cranium.

Althougil tile jaws were considerably

smaller in our progeroid infant,

the

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denti-417

l’ic. 5a. Glossary of Terms. The following reference points visualized in the lateral cephalometric films

(Fig. 5a) are employed in the description of the observations:

S: a point representing the center of sella turcica.

N : the point nasion at the anterior limit of the fronto-nasal junction.

B: Boiton point represents the height of curvature in the notch behind the occipital condyle.

Ba: tile point basion represents the anterior border of foramen magnum.

ANS: tile anterior nasal spine.

GN: gnathion, a point on tile chin determined by bisecting the angle formed by the facial and man-dibular planes.

Angle Ba-S-N: the inferior angle formed by the intersection of the lines Ba-S and S-N. It is an angular measure of the cranial base.

Angle B-S-N: the inferior angle formed by the intersection of the lines B-S and S-N. It is an angular measure of the cranial base.

Angle S-N-ANS: The inferior inside angle formed by the intersection of the line S-N and N-ANS.

This angle is a measure of recession or protrusion of the anterior nasal spine in relation to the an-terior cranial base.

tion was approximately equal in both

in-stances. However, the tooth buds occupied

a proportionately greater area of the maxilla

and mandible in our progeroid than in the

normal infant. The difference in the size

and posture of the tongue of the progeroid

infant was of interest. Normally the

rela-tively large tongue of the infant fills the oral

cavity and protrudes over the alveolar ridges

to lend support to the cheeks and lips. In

our progeroid infant, the tongue was

dis-proportionately small and filled but a small

part of the oral cavity. The deficiency in

facial support from within the oral cavity

accounted at least in part for the depressed

facial contours. Although the soft palate

and pharyngeal airway were

proportion-ately smaller in our progeroid infant, the

airway as visualized in the lateral view was

unobstructed and seemed adequate to

per-mit ventilation.

Certain angular and proportionate linear

measurements are of interest in that they

permit the elimination of differences due to

absolute size and allow for comparison with

the normal. Several angular measurements

were studied. The angle

Basion-Sella-Nasion was measured at 130 degrees and

the angle Bolton-Sella-Nasion at 140

de-grees. Both of these measurements of the

base of the skull fall within the normal

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measure-NORMAL Age 0-1-6 L N Age 0-2-16 418

Fic. Sb. A coniparison of tracings of lateral

1’(pl11lmm1(t nc roentgenogramn of a norlilal infant,

age 1 niomitli and 6 lavs :111(1 that of the patient at the age of 2 Illonths afl(I 16 (lays.

iiieiits relating tile mandlil)le amid IlTiaxilla to

tile anterior crallial base likewise collipared

favorabl’ Witil the range of normality.

Total facial height is nleasured from Nasion

to Gnathion aildi of this, IlaSal height,

meas-ured froni Nasion to ailterior Ilasal spine,

constitutes about 43 per cent. Similar

pro-PrtinS of facial ileight were obtailled for

this progeroid infant.

The last film ill tile series was obtained at

tile age of 5 years, 2 nlOlltils and 6 days

(

Fig. 6). There was a slight increase in the

O1)ttISefleSS of the cranial base 1)ut this find-ing is consistent with siniilar changes ob-served in florillal children. Tile anterior

nasal Spine ilad advanced considerably

for-ward of tile anterior crallial l)l5e (Angle

Sella-Nasion-ANS measured 97.5 degrees).

This disproportionate forward growth of

tile maxilla accOullted for tile prominence of tile niiddle face aild IlOSe. Tile nasal

por-tioll of tile face now occupied a greater

pro-portioll of facial height and this was, no doubt, related to tile dililinished vertical

growth of the jaws aild alveolar processes. Tile lack of vertical height in the dental

area would account for comparing tile like-ness of this cilild to tilat of an edentulous

and senile face.

Clinical exailli ilation revealed tilat the jaws were small. Intraoral inspection was

limited by tile small range of mandibular

movement. Tile deciduous dentition was

fully erupted but crowded Witilin the

con-fines of tile narrow dental arches. The

cephalornetric films revealed that the roots

of the deciduous molars were incompletely

formed. The crowns of the first permanent

molars were fully calcified and contained

within the jaws. The crowns of the

per-manent incisors were visible. Beginning

cal-cification of the crowns of the second

per-manent molars or of tile bicuspids was not apparent in these films. According to the

standards compiled by Schour and

Mass-IerI2 the dental age of this child approxi-mated that of a normal 3-year-old.

In the normal child, the developing

ad-noid tissue may be visualized in tile lateral

cephalometric film as a prominent

convex-ity of soft tissue projecting from the base

of the skull into the epipilarynx. This mass

of tissue was never observed in the series

of films obtained on this child. This finding

is of special interest in the light of the

observation that lymphadenopathy was not

observed at any time despite several

infec-tious experiences.

By superimposing the tracing of the last

film upon the tracing of the first film, the

peculiar pattern of Ileadi growtll of this

progeroid child may be studied (Fig. 7).

Tile technic of superimposition involves a

modification of Broadbent’s method

\vilere-Ftc. 6.Lateral cephalometric roentgenogram of the

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0-2-16

5-2-6

I - I -17

0-2-16

419

Ftc. 7 (Upper left). Superimposed tracings of tile lateral cephalometric films reveal the amount of growth during a 5-year period. The paucity of vertical facial growth is an outstanding feature of the abnormal growth

pattern.

Ftc. 8 (Ahoce). Superimposed tracings of

the external outline of the cranial vault at various ages.

l’ic - 9 (Lower left). Tracing of tile mandible at the age of 5 years superimposed upon a tracing

oh-taitied at the age of 2 months. Note the comparative paucity of vertical growth in the condvle and ramus of the mandible.

ill Basioll is substituted for Bolton. The

out-lilIes of tile neurocranium revealed a con-centric I)attenl of increase in size. This

patteril is qualitatively silTular to that

cx-ii il)itedl i)v Ilonlial children though quantita-tively it fails far short of tile normal

mere-IlleiltS of growth.

The IlloSt striking departure from the

llornlai 1)ltterIl of growth was apparent in

the facial skeleton. Normally, the floor of

tile nose descends in a parallel manner

from tile base of tile skull.9’ 10 Tile increas-ing lleight of the bodly of tile maxilla allows

for tile development of the maxillary

antrum. Tile anterior nasal spine and the

cilinpoillt, when related to the base of the skull, are described as growing downward

and forward. In this progeroid infant, there was comparatively iittle increase in vertical

height of the face. Instead, the anterior

component of facial growth predominated

producing a short and somewhat snout-like

face.

Further analysis involved a separation of

the component parts of the head.

Superim-position of the outlines of the neurocranium revealed concentric patterns of increase in

size (Fig. 8). The rate gradient was at its

maximum intensity during tile first year and

slackened considerably between the end of

the first year and the fifth year. Except for

the quantitative difference, the gradient of

neurocranial growth was not ulllike that

observed in tile normal,

When tile growth of this progeroici man-dible was analyzed (Fig. 9), the dieviatlons from tile Ilorlllal were found to be qualita-tive as well as quantitative. Comparatively little increase in ramus heigilt was recorded

at the level of the sigmoid notch. Tile height of the coronoid process was unchanged and

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slightly. Since condylar growth is to the mandible as epiphyseal growth is to a long

bone, the lack of increase in the height of

the condyle serves to account for the

dys-plasia in the vertical height of the mandible.

Apart from the eruption of the dentition,

the body of the mandible showed little

in-crease in vertical height. The greatest

in-crements were observed in the length of

the body of the lower jaw. These

observa-tions also account for the snout-like facies

evident at 5 years of age. Similar treatment

of maxillary growth revealed slight increase

in vertical height. The predominant effect

of growth was to increase the depth of the

face through the forward growth of the

maxilla.

Whatever the adverse systemic factors

might have been inhibiting the growth of

this child, it is clear that they were

operat-ing prior to birth. This would account for

the overall reduction in head size observed

shortly after birth.

To understand the later growth changes

and distortion of the pattern of facial

growth observed in this progeroid child

re-quires a brief review of certain principles

governing the growth of the head. The

head may be likened to a community of

bones each possessing its own phylogenetic

pedigree, each subserving different

func-tions, each following a separate growth

pat-tern, and altogether integrating their

activi-ties to form a total structure of definite

proportions. The neurocranium, for

exam-ple, begins to grow very early and at a high

rate of speed to attain practically adult size

at 6 years of age. The facial skeleton

con-tinues to increase in size in regular

incre-ments up to adulthood. These differences

between the growth of the facial bones and

the part of the skull associated with the

nervous system are important in evaluating

the effect of a systemic growth arrest at any

given time. As Brodi&1 pointed out, those

areas of the head will suffer most which

have the greatest growth expectancy.

It would seem then that the growth arrest

operating in this instance did not behave in

all or none fashion. Rather, it seemed to

behave as a damper on the growth process,

allowing for some growth but rapidly

decel-crating the whole process. Beginning in

utero, it would act to produce a small infant

with a small head. Since the growth of the

neural portion of the cranium is most

pro-lific at an early age, it continued to grow

despite the ever present deceleration. On

the other hand, facial growth, including the

growth of the jaws and the eruption of the

teeth, having to continue for a longer period

and at a steadier rate, were more gravely

affected by the decelerative process. In this

way, proportionality in head growth could

not be maintained and distortion in the

pattern of head growth was inevitable.

In summing up the peculiarities

demon-strated in the cephalometric studies, it is

apparent that “progeroid” growth in this

instance was characterized by retarded

development rather than by premature

senility. Similar study of other cases of

progeroid and progeric growth would be

of interest.

DISCUSSION

This patient manifests a severe growth

disturbance accompanied by some

charac-teristics superficially resembling those

found in senile individuals. There is

riicro-cephaly with poor development of both the

neurocranium and splanchnicranium and a

severe degree of developmental retardation.

It is probable that the condition began in

utero since the child’s birth weight and

length were abnormally small despite a

gestation reported to be full-term. Failure

to grow normally was evident during the

first 4 months and growth differed greatly

from that of a premature infant of the same

birth weight. The senile appearance of the

child deserves consideration. Careful

analy-sis reveals that the changes suggestive of

old age are more apparent than real. The

face resembles that of an aged woman who

is edentulous and has had marked alveolar

atrophy, but our analysis has shown that

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ORIGINAL ARTICLES

changes but is associated with the failure

of facial growth. There is, moreover, no

evidence of arthritis or arteriosclerosis.

We have no explanation for the child’s

growth failure. There is no evident defect

in either the cardiovascular, digestive or

urogenital systems, and her condition is not

the result of inadequate dietary

manage-ment. The results of the numerous

labora-tory tests give no clue as to the basic

dis-turbance. While the failure of neurocranial

growth suggests brain abnormality, the

pneumoencephalograms revealed small

yen-tricular structures otherwise basically

nor-mal anatomically, and the

electroencephalo,-grams were normal. The postulation of a

basic brain abnormality does not offer an

adequate explanation for the patient’s

con-dition.

A lack of pituitary growth hormone may

be postulated as a major factor. However,

in contrast to the growth pattern of a

pitui-tary dwarf in which growth is relatively

normal during the first year of life,13

retard-ation of growth in this patient was manifest

early in 11cr first year. There were no hypo-glycemic attacks such as are attributed to

deficiency of adrenal gluconeogenic factors

resuiting from a probable decrease of

pitui-tary adrenocorticotropic hormones. There is

also no other evidence of hypoadrenaiism or

of hypothyroidism which might be

second-ary to general pituitary deficiency.

More-over, failure of cranial growth such as is

present in this patient, does not occur in

pituitary dwarfism.

Tile possibility of a genetic origin of this

child’s condition must be considered. The

lack of any other cases in the family or

any similar cases in the literature make this

explanation difficult to sustain. Although a

genetic mutation cannot be excluded as a

possibility, it would still leave unexplained

the nature of the genetic defect which led

to such severe and widespread changes.

An-other possibility is that severe injury to the

fetus occurred in utero. The history of

mumps during the pregnancy suggests mumps virus as the etiological agent;

how-ever, there have been no reports in the

literature of similar cases following mumps

infection of pregnant women.

At one time, a diagnosis of progeria was

considered in this case. If the term progeria

is restricted to the condition originally

de-scribed by Hutchinson and Gilford,4 it is

apparent that the resemblance of our case

to progeria is very superficial. The growth

disturbance in the Hutchinson-Gilford

syn-drome is not apparent until the end of tile

first year of life and is not so severe as in

this case. Neither microcephaly nor mental

retardation is found in progeria. The lack

of development of the splanchnicranium,

however, is similar in the

Hutchinson-Gil-ford syndrome, hut the growth of the

neuro-cranium is quite different. The alopecia,

arteriosclerosis, coxa valga and periarticular

changes with secondary contractions found

in progeria were not found in this case.

It is of interest to compare this case to

reports which have appeared in the

litera-ture of children who have had a growth

disturbance and an appearance suggestive

of premature aging, but are not cases of the

Hutchinson-Gilford syndrome. The cases

reported by Cockaynet’ and by Neill and

Dingwall1 for example, share these

charac-teristics. The appearance of the disturbance

was earlier and more severe in our patient.

There were no cataracts as in the case

re-ported by Cockayne. Joint deformities,

in-tracranial calcification, spienomegaly,

hep-atomegaly and optic atrophy which were

found in the case of Cockayne and in the

2 cases described by Neiil and Dingwall

were not present in our patient.

We are classifying our case as a progeroid

syndrome because of the superficial

resem-blance of the child to aged persons;

how-ever, it is clear that her appearance was the

result of a severe growth disturbance rather

than the result of premature aging. An

analysis of her characteristics, moreover,

leads us to believe that her case differs

markedly from all others classified as

prog-ero,id syndrome and from all other cases of

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422

SUMMARY

The case of a severely dwarfed

micro-cephalic child is reported whose growth

dis-turbance probably began in utero. Serial

cephalometric studies were done and are

re-ported. No explanation could be found for

11cr condition, and no similar case can be

found in the literature. The superficial

re-SeIT1I)lance of the child to an aged person

warrants the classification of her condition

with a miscellaneous group of cases under

the term “progeroid syndrome,” but it must

be noted that her appearance was the result

of a severe growth disturbance rather than

of true premature aging.

REFERENCES

1. Neiil, Catherine A., and Dingwall, Mary

M. : A syndrome resembling progeria:

A review of two cases. Arch. Dis.

Child-hood, 25:213, 1950.

2. Cockayne, E. A. : Dwarfism with retinal

atrophy and deafness. Arch. Dis. Child-hood, 11:1, 1936.

3. Cockayne, E. A. : Dwarfism with retinal

atrophy and deafness. Arch. Dis.

Child-hood, 21:52, 1946.

4. Cilford, H. : Progeria, a form of senilism. Practitioner, 73: 188, 1904.

5. Atkins, L., Progeria, report of a case with post-mortem findings, New England

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W., Tamplin, A., and Strisower,

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Treat-ment of Endocrine Disorders in

Child-hood and Adolescence. Springfield,

Thomas, 1953, p. 123.

SPANISH

ABSTRACT

Smndrome

Progeroide.

Informe

de

un

Caso de Pseudo Senilismo

Se ha empleado el t#{233}rminode sIndrome pro

geroide para aquellos casos con caracterIsticas seniles de pacientes enanos, microcef#{225}iicos y

con retardo mental, claramente distinguibles

de Ia progeria (smndrome de

Hutchinson-Gil-ford) y debidos fundamentalmente a trastornos

del crecimiento m#{225}sque a senilidad prematura. El aspecto senil del presente caso corresponde precisamente a alteraci#{243}n del desarrollo; sin

embargo difiere de otros casos publicados ‘i

clasificados como pertenecientes a este

sIn-drome progeroide.

Aunque el embarazo se consider#{243} a t#{233}rmino,

el paciente peso al nacer 1165 gramos; debido

a sus precarias condiciones permaneci#{243} en el

hospital durante 6 a#{241}os,observando

crecimien-to muy lento y escaso aumento de peso a

pesar de que parecla comer bien; al a#{241}ode

edad la nina pesaba 2940 gramos y media 47

cm., a los dos aflos 3.4 kilogramos y 60 cm.

y a los 6 a#{241}osde edad 3.6 kilogramos y apenas

66.6 cm. de longitud. Su desarrollo motor, de

adaptaci#{243}n y de relaciones personales y sociales

fue normal cuando la nina tenia 27 semanas de

edad; alcanz#{243}el correspondiente a los dos a#{241}os

y medio y asi ha quedado hasta Ia fecha. Se le practicaron numerosos ex#{225}menes de

labora-torio, generalmente normales, asI como estudios cefalom#{233}tricos extensos que se#{241}aiaban

princi-palmente marcada microcefalia, lengua muy

peque#{241}a que escasamente llenaba Ia cavidad bucal; #{225}ngulosBasi#{243}n-Sella Nasi#{243}nde 130 y Bolton-Sella-Nasi#{243}n de 140 grados, a Ia edad

de 6 meses y medio, estudios que

perI#{243}dica-mente se realizaron hasta los tiltimos practica-dos a los 5 a#{241}osdos meses de edad, en que se encontr#{243}ligero aumento de Ia base del cr#{225}neo, desproporci#{243}n considerable de la Ilnea anterior nasoespinal en relaci#{243}n a Ia basal craneana,

acortamiento de Ia altura vertical del area

dental y aumento de Ia proporci#{243}n nasal de Ia

cara, rasgos que acentuaban notablemente el

aspecto senil; las mandibulas y los dientes en

general correspondlan a una edad dental de 3

aflos. Tambi#{233}nse observ#{243}escaso desarrollo del

(11)

que sufri#{243}infecciones severas diversas no hubo

respuesta del sistema linfatico. La figura 7

seflala ci desarrollo peculiar del crecimiento

cef#{225}lico de la nina a trav#{233}sde sobreposici#{243}n de

diferentes pelIculas tomadas en ci transcurso de

los 6 afios; el esqueleto facial es el rasgo que

m#{225}sse separa del patron normal del desarrollo general; la mandlbula muestra una franca

desviaci#{243}n tambi#{233}n, tanto cualitativa como

cuantitativa.

Ann cuando los autores no encuentran una

explicaci#{243}n definida para la falta de desarrollo en esta llina progeroide, es claro que los diversos factores sist#{233}micos determinantes del cuadro

actuaron desde antes del nacimiento, puesto

que a pesar de un embarazo a t#{233}rmino, tanto ci peso como Ia estatura de Ia nina se encon-traron anormalmente pequeflas cuando naciO.

El aspecto senil de Ia nina no es debido a

senilidad prematura, sino a franco retardo en

su desarrollo; no hay evidencia de artritis o arterioesclerosis en Ia nina, ni defectos cvi-dentes de los sistemas cardiovascular, digestivo, urogenital; ci manejo diet#{233}tico no ha sido in-adecuado, Ia quimica sanguinea no se#{241}ala ningOn trastorna de fondo; ni hay anormalidad

basica cerebral ni ausencia de hormonas

hipofi-siarias del crecimiento e hidrocorticotrOficas ni

manifestaciones de hipoadrenalismo o

hipo-tiroidismo; por #{241}ltimo, tampoco se pudo

en-contrar un origen gen#{233}tico que explicara ci

retardo del desarrollo.

El parecido superficial de la nina a una

per-sona senil favorece su clasificaci#{243}n dentro del

grupo miscel#{225}neo que comprende el t#{233}rmino

(12)

1955;15;413

Pediatrics

Herbert J. Grossman, Samuel Pruzansky and Ira M. Rosenthal