Late Onset Tay-Sachs Disease Pre senting
as a Brief Psychotic Disorder with Catatonia:
A Case Report and Review of Literature
Osama Saleh, M.D.
Abstract
Th is is a case report cf late onset 'Fay-Sachs disease diagnosed in a 14-year-old male
non-Jewish adolescent who presented in a psy chotic and catatonic state. The objective is to
emphasize that Toy-Sachs disease can present with psychiatric symptoms, with a variety of
phenotypes from infancy to adulthood, and can offec! individuals other than Ashkenazi J ews.
Amphiphilic drugs, including phenothiazine and tricyclic antidepressants, may worsen the course of
the illness. Resistant catatonia can respond to an extended trial ofhig]: dose lorazepam,
CASE REPORT
The pati en t is a 14-year-old male of Poli sh a nd Irish d esce nt tra nsfe rred to ou r
facility from an oth er hospital.
ChiifComplaint
O ver th e past four days, th e pa ti ent beca me less verba l, se clus ive, with poor
a ppe t it e a nd d ecr eas ed slee p.
H istory qf Present Ill ness
Th e patient a r rived via a m bu la nc e acco m pa n ied by his parent s. The parents
report ed that he had been in his usu al stat e of health a nd a tt e nd ing schoo l reg ularly
until four days prior to ad m iss ion wh en he had been teased a t school. Wh e n he a rrived
home, th e patient was anxiou s a bout returning to sc hool th e next day, wa s ramblin g
a nd making suc h bizarre sta te me nts as: " I smo ked a cigare tte, I sto le a pillow,
so m eo ne pull ed my pants do wn " and , " T hey a re ou t to ge t me. " The pa t ie nt becam e
less and less ve r ba l, more a nxious a nd fidget y, a nd his a ppe t ite diminish ed significa ntly . H e becam e mut e, seclud ing himself in his roo m .
Dr. Sa leh wish es to ack nowled ge his Progra m Director, David J. Lynn , M.D. for his hel p and
encourage me nt in pr ep aring th is manuscri pt.
41
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JEFFERSON J O UR NAL OF PSYCHIATRY
Past Psychiatric History
The pati ent had never had a sim ila r e pisode , and th ere was no past psych iatric
history.
Developmental and M edical Hi story
Th e parents report ed th e that pati ent 's birth was without com plication s and
early mil eston es were m et exce p t for sp eech . Th e pati ent 's spe ec h re ported ly had
a lways been diffi cul t to und erst and.
Th e pati ent wa s diagnosed with a prim ary speech imp ed im e nt. H e re ceived
speech th erapy at age 4 with some improvem ent. By age 5, th e pare nts obs erv ed that
th e pati ent appeared thinn er a nd weak er th an hi s peers a nd could no t keep up with
ot he r ch ild re n. Ne uro log ica l eva lua tion a t th is tim e reveal ed dysarthria , low muscl e
mass with incr eased ton e, a bnor mal wid e based ga it, a nd a bnormally brisk bil at eral
d eep tendon refl ex es. Th e pati ent had CT sca n a nd MRI, both unrevealing; second
MRI th e follo win g yea r was again unrevealing. Th e possibili ties e n te rta ine d a t th e
tim e included leukodyst roph y or a brain stem lesion, but t here was no clear evide nce
for eit her. Th e patient was e nrolled in a pr ogram of ph ysical and occupational
th erap y, but th ere was no improvem ent of his neu rol ogical symp toms .
Between th e ages of II a nd 13, t he pa tient gra d ua lly d eveloped diffi cult y with
che wing a nd swall owin g a na had so me d rooling. Th e parents report ed that he would
clen ch hi s teeth wh e n he spoke, giving his speech a n eve n poor e r q uality. At that tim e
t he patient had a n MRI whic h showe d m ild ce re bellar dege neration. Metabolic
st udies including lon g cha in fa tty ac ids, plasm a am ino aci ds, crea tinine phosphokinase, pyru vat e, am mo nia a nd lact at e which were all wit hi n norma l lim its.
Socia l H istory
The pati en t resides with his parent s. T he fam ily is desc ribed as close knit and suppor tive. Th ey d escrib e him as ge ntle a nd shy. He has never had many friends . He e nj oys
watch ing sports on TV a nd playin g Ni n ten do but he engages in litt le outdoor activit y.
H e is in th e 8t h gra de of regu la r classes an d has bee n maintaini ng grad es, of A's, B's,
a nd C's. H e had to rep eat second grade du e to difficulty with read ing and writing.
Family H istory
Th e family history is unrem a rk abl e exce pt th at t he pat ie n t's fath er had a
ch ild hoo d speech im pe d ime nt whic h lat er resolved. The pa ti ent is t he younges t of
four child re n. His siblings h ave had u nre marka ble medical h isto ries.
Menta l S tatus Examina tion
14-yea r-old whi te mal e present ed to us as t hin, ap preh ensive and immobil e. H e
sa t in his chair wit h glassy eyes. H e didn't a nswer a ny qu esti ons, d id n 't mov e, didn 't
eve n nod his head . H e didn 't follow a ny commands. Waxy flexibili ty could be elicite d .
LATE O NSET TAY-SACH S
43
H osp ital Course
Upon admission to th e unit , th e pati ent was acco m panied by his parents. H e did
not show a ny e mo t io n whe n th ey d epart ed . H e sa t m u te o n his bed . Th e pa tient was
sta r t ed on lora zepam 0.5 mg three t im es a day. H e resist ed takin g th e med ica tion . He
at e minim all y a nd co nt inue d to be wit hd ra wn a nd mut e. H e did not follow com ma nds.
Every att empt to ad m iniste r m ed ication was met with resist an ce. C om m unica tion
wit h th e pati ent was a tt e m pt ed in wri ting but hi s a nsw e rs were va g ue o r inappro pria t e. At midnight th e d ay of ad m issio n, th e pat ient was fou nd nak ed in th e middle of
his room, co nfuse d a nd un abl e to slee p unt il 3:00 a. m. O n th e sec o nd day afte r
admission, th e pati ent co nt inue d to be mostly mut e, a nswering so m e qu est ions wit h
only a sing le word . By th e third day, th e pati ent took m edi cation without resist an ce.
H e was repo rt ed to have t rouble swa llowing . H e was cont inue d o n lo ra zepa m 0.5 mg
three tim es a day a nd star t ed on risperidone 0.5 mg tw ice a day . He sta rt ed to
im prove a nd showed som e und erst anding of co nve rs a t ion a nd co m mands by nodd ing
his head. H e became coo pe ra t ive a nd a ppeared less frig ht e ned . H is a ppe tit e improved a nd he began to particip at e in group ac t ivit ies by playin g ping po ng. He
a tt e nde d sc ho ol classes in th e partial hospit al program , foll owed teach e rs' dir ect ion s
and played fla g football. His speech cont inue d to be d ysarth ric. H e a lso con tinue d to
di splay facial grimacing. Hi s ga it remained wid e-b ased . T he pati en t 's d iffi cul ty in
swa llow ing, however, had improved by this ti me.
In hi s di scu ssion of th e eve n ts pr ecipitating th e adm iss ion , he was vag ue. He
could articu lat e very littl e about wh at had led up to thi s point or his su bjective
expe r ie nce while acutely psych oti c. Wh en sc hoo l diffi culti es were d ir ectly ex plored,
th e patient did sa y th at a bad day a t sc hoo l had pr eceded his decl ine in fu nctio ning.
H e described being ca lle d nam es by peers, who taunt ed hi m, stole his boo ks a nd
att empt ed to remove his pants. H e recall ed th at he lat er becam e confuse d but could
not say wha t he was thinking or feeling. H e described no hallucin a tions or delusions
during this tim e. H e sa id he had sto pped eat ing, but he could not say why. He
co m me nt ed th at th e hosp it al felt lik e a sa fe place to be whe n he fe lt confuse d. He did
say th at his broth er's up coming m arri age a nd d ep artu re fro m th e hom e wer e
a ffec t ing him , but he could not d escrib e how. At t his t ime, a di agn osis of brief
psych oti c di sord er wa s reach ed. It was fe lt th a t a follow-up eva lua t ion wou ld be
need ed to reach a definitive di agn osis. T he pat ient was d isch arged to ho me and horn e
schooling was ordered. Di sch arge m edi cations includ ed risperi do ne 0.5 mg twice a
day a nd lora zepam 0.5 mg three t im es a day.
According to hi s mot he r, t he pa t ien t was co m plia n t wit h his medi cat ions a nd
doin g well o n th e fir st day post-di sch arge. On t he second day, t he patien t ex pe rie nced
a sore throat with low-grad e fever, refu sed his m edi cation s, o nce aga in ea ting a nd
speaki ng less. By th e fou rth day he had aga in beco me m ut e a nd was not ea t ing well.
Hi s paren ts brou ght him back to t he hospital. H e was o nce again mut e a nd ca ta tonic
wit h waxy flexibil ity. H e refused to tak e m edication o r to ea t. He was start ed on
intramuscul ar lorazepam 0.5 mg q6h , a nd hal op eridol I mg twi ce a day. Afte r 4- 5
hours , t he pati ent had feve r of 101°F. Neurole pti c malig na nt synd ro me was conside re d . Neurolept ics were di scon tinu ed ; lora zepa m 0.5 mg eve ry six ho urs intramuscu-
44
J EFFERSON J O U RNA L OF PSYCH IATRY
lar was maint ained. An int ern al m edi cin e co ns ultat ion was req ues ted . A che st X-ray
rai sed th e possibility of left lower lob e pn eumoni a . Int raven ous no r ma l salin e was
star te d as th e pati ent was d eh ydrated . The pa ti ent began to show slow im prove m e nt
a nd began to drink a nd ca t. Lora zepam I mg cvc ry six hou rs a nd risp e ridon e I mg at
bed tim e a nd 0.5 mg eve ry mornin g by mouth were star te d as neuroleptic syndrom e
was rul ed out as CPK don e a t th e tim e wa s WNL. The pati ent started to ta lk about
feeling d epress ed a nd expressed su icidal id eation. Flu ox e tin e hyd roch lo ride 20 mg po
dail y was star te d . Th e pati ent see me d ove r-se da te d, as he wou ld sleep on his desk a t
th e hospit al sc hoo l. Hi s lora zepam a nd risp eridon e were both d ecreased to I mg qhs .
Wh en th e pati e nt wen t wit ho ut lo razep a m for a pe riod of 15 hours, he began to
quickl y det e ri orat e, becoming m ute a nd ca tato nic. In tra m uscul a r lora ze pa m I mg
q6h was resum ed a nd th e pat ient slowly improved . T he onse t of psychosis and
ca tato nia in t his pati ent with neu rol ogical sym ptoms an d signs such as dysarthria,
a bnor m a l gait , hyp ertoni a, a nd hyper-refl exi a , we re st ro ng ly suggest ive of a metabolic disord er. In revi ewing th e pr eviou s met ab olic test s, it was not ed th a t lysosoma l
e nzy mes (sp ecifi call y hexosaminidase A) were not test ed . Th e sus picion of lat e ons et
T ay-Sach s disease was co nfirmed by lab orat ory analysis on th e se rum. Although test s
reveal ed tot al hexosaminidase (A & B) to be wit hin th e normal range, hexosaminidase A was onl y 1% of th e tot al (no r mal 56%-80%) . In th e le u kocyt es, hexosaminidase
A was o nly 7% of th e to tal (no r mal 63%-75%) .
Cons idering th e positive serum an d le ucocyt e find ings for hexosa m inidase A
defi ciency, we reviewed th e lit e ratu re for t reat m ent of psychosis and ca t at o nia
associa te d with lat e onse t T ay-Sach s di sease. Th e lit e ratu re sugges ted with holding a ll
a nt ipsych oti cs a nd incr easin g lo ra ze pa m , which was increased to I mg four times a
day; fluox etin e hydrochl oride 20 mg dail y was con tinue d. T he patien t improved
qui ckl y. Hi s movem ent s we re mor e spo nta neo us, hi s eating improved and he be cam e
more verba l a nd int eracti ve wit h peers. H is pa rent s felt t ha t he had return ed to his
usu al state of hcalth. The pati ent was d isc harged ho me wit h a plan for him to
follow-u p with a pa rt ia l hospit ali zat io n pro gra m . He was to cont inu e th e lo ra ze pa m at
I mg q6 h, flu oxe t ine hyd rochl or id e a t 20 mg da ily. H e was a lso to gct pedi atric
follow-up a t th e referring hospit al.
DISC USSION AND REVIEW OF LAT E ONSET TAY-SACHS DISEASE
INTROD UCTION
Disord ers of ga ng lioside br eakdown can have serious cli nica l co ns equ cn ces. For
exa m ple, th e gc ne tic defi ciency of hex-A ac t ivity ca uses int ral ysosom al accumu lation
of th e ga ng lios ide GM 2 whi ch result s in des truct ion of the neuron. Thi s is th e
pat hoge nesis of th e ne uronal break down t hat lead s to t he expression of sym ptom s in
T ay-Sach s di sease. G M 2 gangliosidoses have be en subclassified cl inically according to
th e agc of onse t of symptoms int o infant ile, j uven ile, and adu lt forms . How ever,
di ffere nt iat in g bet wee n j uvenile and ad ult va riants of t he d isease is oft en diffi cult, as
many pati ent s pr escnting in ad ult hoo d re po r t sym ptoms dating back to ea rly childhood. In th e infantile form ( 1,2) a fflicte d child re n, a lt ho ug h norm al at bir th , dev elop
LATE O NSET TAY-SACH S
45
hypotonia and psych om otor retardation in th e fir st yea r of life. The ce nt ra l nervou s
syst em d egen eration pro ceeds rapid ly, a nd spasticit y a nd blindn ess soo n follow. Th e
classical "che r ry-re d macul a ," first described with T ay-Sach s di sease and now known
to be pr esent in many storage di sea ses, is a normal segme n t of th e retina ren dered
vivid by contiguous wh it e a reas that contain th e store d mat e rial (3) . Respi rat or y
problems a re com mon a nd pn eumoni a is th e usual ca use of d eath by 3 years of
age (3) .
Th e juvenil e onse t ( 1,4,5) of T ay-Sach s di sease (a lso ca lled lat e in fan tile form )
has it s onse t ran gin g from I to 9 yea rs . Early mil est on es a re ofte n norm all y achi eved ,
but a re followed by a d evelopm ent of promin ent neurological deficit s. Thes e deficit s
includ e se izures, cho re iform a nd dyst oni c movem ent s, incontinen ce, dysphagia, gai t
di sturban ce, immobility a nd dem enti a. Death usu all y occ u rs by ag e 15 years. Wh en
one ca n dat e signs a nd sym pto ms to child hood, t he more beni gn course of illn ess leads
to it bein g classifi ed as ad ult ons et. Th e ad ult on set va ria nt ( 1,4) (a lso ca lled chronic
or la te ons et Tay-Sa chs Dis eas e) , usu ally pr es ents after age 10 yea rs. Howeve r,
sym ptoms ca n be di scerned in retrosp ect as ea rly as th e fir st or seco nd year of life.
M or e th an 80% of th e pati ents d escrib e hav ing mild neu rol ogical sym ptoms before
th e age of 20 yea rs (4) . Com m only, t he pr esenti ng sym ptoms incl ude stutt ering,
grimac ing on speaking, cra m ps after m ild exercise, di fficulty clim bi ng stairs or riding
a bicycle, or a n in abilit y to particip at e in spor ts. Pati ents ca n be described as clumsy
a nd slow in school. In lat er s tages, pati e nt s will have mor e pronou nce d neurologic
sym ptoms including a ta xic ga it, hypot oni a , rigidity, dysa rth ria , or cog nitiv e impairm ent. Psychiatric sym pto ms are rep ort ed in more th an 50% of cases ( 1,4). T he mo st
com mon psychiatric sym pto ms are psych osis with hallu cination s or d elu sion s. Catatonia a nd mood symptoms hav e also been report ed . Pati ents might be given a n in iti a l
diagn osis of sch izophre nia, bipolar di sord er, psych oti c depression , or major dcpresS f O Fl •
. GENE T ICS O F TAY-SACH S DISEASE
T ay-Sach s di sease is ca use d by a d eficien cy of hexosa m inidase A and is inh erit ed
as a n a u tosomal recessive t rait. At least fift y-four spec ific hexosa rninidase A mutati on s ha ve been report ed to d at e. Most mut ation s are associa te d with th e severe,
infantil e-on set dis ea se whi ch has a clear pr edil ecti on for Ashk en aziJ ews (6) . H exesa m inidases occur mainly in two isoenzymat ic form s: H ex-A a nd H ex-B. H exosa minidases A is com pose d of (a) and (13)-subunits; H cx-B is co mpose d on ly of t he
(13)-subu nits . Th e (a) and (13) su bu nits a re enco de d a t different ge ne tic (a) and (13)
loci, res pec tively. A mut ation on ch ro mosome 15 in th e (a) chain region may re sult in
a se lec tive deficien cy of H ex A a nd ca n ca use T ay-Sach s disease. A mut ation on
chromosome 5, whi ch a lt e rs th e region coding for t he be ta sub un it , will affect both
H ex-A a nd H ex-B ; thi s induces th e Sa nd ho ff va ria n t of th e d isease charact erized by
neu rop sych iat ric di sturban ce as well as visce ra l orga n invo lvem e n t (2,4,7 ,8) .
Th e clinical di fferentiation of chronic varia n ts du e to H ex A defi cie ncy (TaySach s di sea se variant s) from those du e to com bine d H ex A a nd Hex B defici ency
46
JEFFERSON JOURNAL OF PSYCHIATRY
(SandholT dis ease variants) is generall y not possibl e. Howeve r, lat e-o nse t dis ease due
to H ex A d efi ciency is much more com mon than that du e to com bine d Hex A and Hex
B defi ciency.
The infanti le form ofTay-Sachs is assoc ia te d with se ve re m ut at io ns on chro mosom e 15 leading to th e formation of non-functioning mRNA and a to tal absence of th e
alpha subunit prot ein. In th e juvenil e form of th e disease, a point mu t atio n causes the
formation of fun ctioning mRNA but d efective alpha subunit prot ei n . Pa t ie nts with
th e ad ult form of th e dis eas e have point mutations a t a different site on t he gene than
th at assoc ia te d with th e juvenile' form. The vari abl e mut at ion s sites within th e gene
probabl y correspond to the different form s of th e GM 2 ga ng lios idoses (2,4,7,8).
NEURO LOGICAL FEAT UR ES OF LATE-ONSET TAY-SACH S DISEASE
In lat e onset T ay-Sach s dis ease, neurological sym pto ms can prog ress slowl y with
an indolent course a nd variabl e clinical pr esentations. Th e se nso ry system, a long with
cra n ia l and peripheral nerves, is usually spa re d . Neuron s a re a ffected but not th e
m yelin nor the muscl e, and so demyelinating neuropathy a nd myopat hy hav e not
been see n . Th e syst ems com mon ly affect ed a re : I) ce re be llum, leading to gait
disturbance, ataxia, dysarthria , depress ed t endon refl exes, hypo to nia , and/or intention t remors; 2) upper motor neurons, leading to weakness, spas ticity, increased
t endon refl ex es, exte ns or plantar response; 3) bas al ga ng lia, leadi ng to abnormal
ga it, rigidity, resting tremors , dystonia and oth er ex t ra pyra midal signs in som e
patients (Slowl y pr ogres sive dyst onia domin ates th e cl inica l course of t he dis ease) ;
a nd 4) lower motor neuron, leading to weakn es s, was t ing , fascicula tion s, an d/or
hypotonia (1,4,9,10).
PSYCHIATRI C FEATURES OF LATE-ONSET TAY-SACH S DISEASE
Psychiatric features have been re por te d in more th an 50% of pati e n ts with lat e
o nse t Tay-Sach s dis eas e. Psychos is was report ed in abo ut 33% of t hose pa ti e n ts ( 1,4).
Di sorganized (h eb ephrenic) sc hizop hre nia was most co mmonly rep o rt ed and cha ract erized by disorganized thinking, delusion s, auditory hallucin at ion s, ina ppro pria te
a ffec t and ma rk ed det erioration in th e level of func t ioning. Psych oti c episodes were
recurrent a nd ch ro nic inp ati en t ca re was ofte n need ed . In one case repo rt , th e patient
had d elusions, a ud itory and visual hallucination s of small a nimals, and child-like
beh avio r. Th e pati ent was di agn osed a nd trea t ed for sc hizo phrenia before he was
di agnosed as lat e ons et T ay-Sachs di sease (II) . Postpartu m psychosis has been
report ed in a not her case report (12) . Psych osis m ani fest ed ea rly in t he course of
illn ess in some pat ients, wh ereas in o t he r pa ti ents psych osis a ppeared aft er many
years of neu rol ogical invo lve men t ( I I) .
Mood disord ers in cluding m ania wit h o r wit ho ut psych osis, unipolar depression,
a nd a typ ica l manic sta tes have been d escribed ( 13).
Cognitive decline has been re po r te d in lat e onset Tay-Sachs dis ease, th e
impairm en t ra nged from mild me mory defi cit to severe cognit ive decline (4,12,15).
LATE O NSET TAY-SACH S
+7
Lat e onset Tay-Sachs dis ease should be included in th e differenti al di agn osis of early
dem entia .
DIAGNOSIS OF LATE ONSET TAY-SACHS DISEASE
In a pati ent with psychiatri c illn ess and neurologic sym pto ms o r cog ruuvc
impairm ent, m etaboli c di sorders in ge ne ra l shou ld be cons ide re d includi ng G M 2
ga ng lios idoses. Early manifestation s of lat e o nse t T ay-Sach s includ e stut tering,
dysarthri a , weakness, a nd ga it di sturban ces. C linica l sus picion sho u ld be followed by
d et ermin ation of hex osam inidase level s fro m se r u m, leu cocyt es o r cult u red fibroblast s to di agnose lat e o nse t T ay-Sach s di seas e. In th e pr esent case, th e poo r response
to treatm ent a nd th e pr esen ce of psych osis , movem ent di sord er, a nd speech disturbance led us to cons ide r metabolic di sord ers whi ch could accoun t for thi s pr es en tation. El ectromyography st ud ies arc abnormal in 89% of th e pati ent s, but t he re arc no
cha rac te rist ic a bnor malit ies (I) .
There is no significant cor re la t io n between clinical s igns a nd ra dio log ic changes
in lat e onse t T ay-Sach s di sease. Normal result s ca n be rep or t ed in MRI a nd CT scans.
Ce re be lla r a t ro phy, mod erat e to seve re ve r m ia n a t ro phy, a nd ton sill a r a bnorma liti es
have com mo nly been report ed ( 14). Our pat ient di spl ayed norma l MRI a nd CT scan s
in iti all y; lat er MRI showed mild ce re be lla r a trophy.
TR EATM El\'T ISSUE
Th ere is no sp ecifi c treatm ent for lat e onse t T ay-Sach s di sease. Ne urological
man ifes tat ions are m an a ged supportively with th e use of ort ho pe d ic a nd reha bil it ative m easures wh ere ind ica te d (4).
In psych oti c pati ents with lat e onse t T ay-Sach s di sease, t he use of neurolcptics
has been report ed to be of lim it ed efficacy (4, 11). It has bee n no t ed that pati ent s with
psyc h ia t ric sym ptoms a nd lat e o nset T ay-Sach s have a more severe ill ness course. It
m ay be becau se a m p ho phi lic d ru gs, includi ng ph eno thia zines a nd t ricycl ic antidepressan ts, increase lip idosis, a nd ca use depl e t ion of residu al ce llu la r H ex-A (1,4,6,16).
Indi vidu al s wit h a va rie ty of br ain lesions a re a lso mor e vulnerable to ext ra pyra m ida l
side effec ts. Thu s, a pati ent with lat e o nset T ay-Sach s di sease might appear more
neurologicall y impaired , if he ha s been o n neuroleptics (because of ex tra pyramidal
side effec ts ) (4). Lithium has been used in postpartum psych osis associa te d with la te
onset T ay-Sach s di sease with co m ple te resolution of th e d elu sion s within eight een
days ( 12). Lithium , in co m bina t io n with t ra nylcyp ro min e or carbamaze pin e, has been
report ed to be e ffec t ive in seve ra l cases (4) .
E lectroconvulsive th e rapy (EC T) has bee n reported to be effec t ive in psych oti c
depression associa te d wit h lat e o nse t T a y-Sach s di sease, with reso lut ion of chro nic
a ud ito ry hallucin at ion s ( 17). Flu oxe t in e hyd rochl oride has be en used followin g
elec troco nvu lsive th erap y to pr even t re la pse ; lon g-t e r m ben efit is not report ed ( 17) .
In our patient , du ring his ca tato nic state we t ried lor a zepam I mg tid a nd risperidon e
0.5 mg bid. H e was co nt inue d on this regimen for 3 wee ks, with slow improve m e nt.
48
J EFFERSON J O U RN A L OF PSYCHIATRY
Aft er m aking th e diagnosi s of lat e o nse t Tay-Sachs di sea se and revi ewing th e
lit eratu r e o n treatm ent , we sto pped the r is peridone (because it was not report ed to be
u sed b efo r e in lat e on set T ay-Sa ch s di sea se ) . W e inc reased lora ze pa m to I m g fou r
tim es a d a y (t he re was a on e case re port of go od r esp onse in t h e lite ra t u re ) ( I I ). The
p ati ent 's ca ta to n ia im proved rapidl y, wit h re turn to hi s ba sel in e in two days, raising
th e po ssibility that e it he r ri spe r ido ne was slow ing th e imp ro ve m e n t or the in crea se in
lo ra zepam wa s e ffec t ive, o r both . In his thi rd wee k of hospit a lizat io n t he pati ent was
star te d on flu ox et.in e hydrochlorid e 20 m g po d aily as th e pa ti e n t was compl aining of
feeling d epressed a nd su icidal. This did h elp hi s d epression .
Th e m aj ority of pati ents wi t h ac u te catatonia not re lated to Tay-Sach s di sea se
resp ond r apidl y to treat m ent with lora zepam wi th resolution of th e ca ta to n ic
synd ro me wi thin a few hou rs. In o ur case the im provement was gradual. Thi s would
sugges t that it m a y be benefi cial to ex tend the trial or use a high er dose of loraz e pam
in those p ati ents w hose catato nia d oes no t resolv e co mple te ly after t h e fir st few d oses
of th e dru g ( 18, 19) .
CONCLUSION
La t e onset T a y-Sa chs di sea se can p resent wit h a variety of psychiatric sym p to ms,
can a ffec t adolesce n ts as we ll as ad ults, a nd m ore than one-third of t he cas es report ed
we r e not of known J ewi sh d escent. A lt ho ugh it is a ra re di so rd e r (around one hundred
cases ha ve b een report ed in th e lite r ature ), lat e o ns e t T a y-Sachs disease shou ld b e
co ns ide re d wh en evalu a t ing a ny p at ient wi t h a n a ty p ical neu ropsych ia t r ic picture ,
r efra ctory p sychi atric symptoms, o r d em entia in a do lesce n ts or you ng adults .
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