maltase deficiency. Obstructive sleep apnea ...

Obstructive sleep apnea syndrome in acid maltase deficiency. M L Margolis, P Howlett, R Goldberg, A Eftychiadis and S Levine Chest 1994;105;947-949 The online version of this article, along with updated information and services can be found online on the World Wide Web at: http://chestjournal.chestpubs.org/content/105/3/947

Chest is the official journal of the American College of Chest Physicians. It has been published monthly since 1935. Copyright1994by the American College of Chest Physicians, 3300 Dundee Road, Northbrook, IL 60062. All rights reserved. No part of this article or PDF may be reproduced or distributed without the prior written permission of the copyright holder. (http://chestjournal.chestpubs.org/site/misc/reprints.xhtml) ISSN:0012-3692

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addition,

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a

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were

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Diseases

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(.1(1 inaltase nlaht,tst’)

with

tint’

of

tongue

in concert

witln

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1994;

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p”OSA.

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weakness

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= obstructive

(i(’gn’a(latio)nn

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re.

j H. Neoplasnnts

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6

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iii ferior

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is

glcogen

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of tint’ liver.

Niwayannta

M.

N isin i nnoto

5

and

To) our

fmn’st detailed

witil

that severe

maltase OS1t

thcrap;

svo’mknness,

macnt

the

associated

( .si:

2

in the

preserved.

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represents

noted

accesorv

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1))

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(AM

was

the

pathophvsiologic

= acid

dietar’

tIne

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iinf’erior \enla tine 1)rt’ferenltial

illVo)iVt’lnn(’llt

this

description

tissue

while

muscles

metamorphosis,

illoLl visualiza-

h)iplaine

deficiency

i)y fibrofattv

diaphragm,

fatty’

alloLto)lnni(’O)ati1o)lo)gic

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severe obstructive sieep apnea (OSA) anld insufficiency. %7eaning failure ‘as foilowed pneumonia and death. At autopss’, profound

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1110055

tint’

(If

I-. (

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developed respiratory’ by diffuse

tilt atrioti ‘alls

nnatinrt.

. ‘ti. I).

.l(1t’gtt/lS

Apnea Maltase

Rtt(’/n(’//(’

A

usually

are

valve, tintl i)iI)lUln(’ TE E illustrates to) tIne supt’rio)r aintl innf’t’rior venae

r coost

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atri

tile

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infornlatioin

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otIlti

llletaStas(’S

(‘clno)genicitv

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tile

right

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usuaii highly nilol)il(’; also 1)1’ nlnnral dint1 iixetl,

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are

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lie-

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differential

of

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cardiac

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oil

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OSA in Acid Maltase


Deficiency

n’o’phat’t’ntnennt

tI’

x 78 )

(Margolis

et al)

( Fig 2). Tile denlloulstrated Tile

was thin with

diaphragm

by fibrous

(If muscle

tissue

marked

vacuoles

The

histologic

PAS-positive

conlplete

intercostals

with

vacuolization

conitailled

oliastatue,

uirtuahiy

anxl fat. Tile

some

partially

showed

nearly

sternocleidonlastoids

back

muscle

granules

defended.

replacement

and

preservation.

digestible

with

normal

muscle

Electron

microscopy (both

ofseveral

free

and

mtnscles

membrane

showed

b-particle

clinical

glycogen

The

obstructive

nature

tromyogram

recordings

intuhation

within

again

xvas

fore.

xve

able

to

ii of

to

by

provitle the

ii)

A soniewhat

of OSA

with

combination

ofthe

abnormalities.

tongue

tissue

airway

aild

provided

rare,

only

patient’s

growth

Hunter

and

Lastly,

1985;

94:458-61 BN,

NKC,

et

may to

large

acid 11 Trend

with

AMD,

only

arid

apparently

to

no

It is unclear

stability

on

xvhy

his

initial

to

alcohol,

that

obvious

could

lingual

xveakness

an have

nocturnal

after

small,

prior

centrally

altered

upper

to

of that

a lengthy

fatty

xveight airway

HPDT.

change,

control.

of

in

obstruction

Ann

Otol

and

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Although

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MA,

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West

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9 Lesser

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Di

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of

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his

True to

one

to uncover

\vilich

Our

of OSA

appears

able

no

and

a new

an interesting

J, Cox EL. The

Acid malta.sedeflciencyin

Respir

TB, Radow

12 Smith

patients,

beloxv

massive

additional

occurrence

exceedingly

did.

accumulation

Hurler

both

and

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McEhligott

in respiratory Rev

BJ,

8 Malone

RA,

high-protein

Males

Am

7 Shapiro

OSA.5

elevated

noted

10:272-81

HiI1AR.

Am

apnea

narrowing

epiglottic,

via

moreover,

a unique

OSA. The

with

of

secretions.75

infiltration.9

hypotonic;

by

WC,

6 Hart

Some

causing

constellation deposition,

tracheal,

OSA

an

to chronically

syndromes

copious

protluce

amvloid

and

via a

abnormal

structures,

and

due

water

sleep,

represents AMD)

Leake acid

et al. Improvement

acromegaly.

the upper

and laryngeal

1987;

ML,

apnea.

M,

adult-onset

Coleman

CU,

5 Mezon

into

hypotonia.

during

4 Orr

in

obesity, and myxedema,

may constrict

hyperplasia

The

Labadie

Swash

for improvement

the

extravasation

genioglossal

complex glycosanininoglycan

deformities,

control, In

pharynx

airway

reflect

Nerve AE,

deficiency

upper

frequently

protein

macroglossia

to OSA

rarely

and

upper

levels.6

upper

and

a relative

the

airway

hormone

of

Muscle 2 Slonim

3 Margohis

to

disorders,

in respiratory

exhibit

predispose

with

contributes

other

airway

induce

changes

upper

mechanism

deposition

obliterate

These

of of

for obstruction, sites

JD, of

tilerapy.

in several

mucopolysaccharide air\vav and acromegalics

combined

alternative

defects

upper

the tissues

tissue,

of

site

replacement

explanation

absence

analogous

development

multiple

fibrofatty

Walt

involvement

There-

the

case

of to our

REFERENCES

never

ventilation.

presence

interaction.

1 Vander

at autopsy.

narrowing

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elec-

and

identify

near-total

a logical

our

(OSA

he required OSA

in the

ACKNOWLEDGMENT: The authors thank Mark Psg. T., for assistance with the polysomnography, Bethea and Trade Kehley for secretarial support.

was

intercostal

of

definitively

the

musculature

particularly

diagnosis

independent

unable

macroglossia,

that

the

sustain

hypopneas

and

1). Unfortunately,

Nevertheless,

tongue

patient’s

airflow

(Fig

48

were

obstruction.

airway

of our

by simultaneous

likely

we believe

association

pathophysiologic

bound).

DISCUSSION

demonstrated

be especially

may

In summary,

features.

grannies

This

global respiratory muscle weakness.iU In any event, knowledge, the development of OSA has not been previously as a complication of HPDT in AMD.

muscles

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mediated

without

acoustic causing resection

distress.

neuroma

at

and

chronic

acute

eliminated

School

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General and

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CHEST


of

failure.

of respiratory

105:

1994; University

Rochester,

I 105

a case

cerebellopontine respiratory

(Chest Rochester

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of

949-50) Rochester

NY.

I 3 I MARCH,

1994

949

Obstructive sleep apnea syndrome in acid maltase deficiency. M L Margolis, P Howlett, R Goldberg, A Eftychiadis and S Levine Chest 1994;105; 947-949 This information is current as of July 12, 2011 Updated Information & Services Updated Information and services can be found at: http://chestjournal.chestpubs.org/content/105/3/947 Cited Bys This article has been cited by 2 HighWire-hosted articles: http://chestjournal.chestpubs.org/content/105/3/947#related-urls Permissions & Licensing Information about reproducing this article in parts (figures, tables) or in its entirety can be found online at: http://www.chestpubs.org/site/misc/reprints.xhtml Reprints Information about ordering reprints can be found online: http://www.chestpubs.org/site/misc/reprints.xhtml Citation Alerts Receive free e-mail alerts when new articles cite this article. To sign up, select the "Services" link to the right of the online article. Images in PowerPoint format Figures that appear in CHEST articles can be downloaded for teaching purposes in PowerPoint slide format. See any online figure for directions.
