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Case Report
Treatment of a Prader-Willi Patient with Recurrent Catatonia
Hana M. Poser1and Alexandru E. Trutia2
1MedicalCollegeofVirginia,1201E.MarshallStreet,Richmond,VA23284,USA
2DepartmentofPsychiatry,VirginiaCommonwealthUniversityHealthSystems,1300W.BroadStreet,Richmond,VA23284,USA
Correspondence should be addressed to Hana M. Poser; poserhm@vcu.edu
Received January ; Revised April ; Accepted April
Academic Editor: Toshiya Inada
Copyright © H. M. Poser and A. E. Trutia. is is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly
cited.
Prader-Willi is a genetic disorder characterized by neonatal hypotonia, hyperphagia, short stature, hypogonadism, and mental
delay. is disorder can result from multiple mechanisms, most commonly a deletion of paternal chromosome , leaving a single
maternally derived chromosome . Individuals who have a maternal uniparental disomy of chromosome have a higher risk for
developing psychosis compared to other forms of Prader-Willi. e following report details the treatment course of a -year-old
female with Prader-Willi and recurrent catatonia. e patient initially had a positive lorazepam challenge test but subsequently
failed treatment with benzodiazepines. She then received eight electroconvulsive therapy (ECT) treatments aer which she showed
improvement from initial catatonic state. However, the resolution in her symptoms did not follow a linear course but would show
periods of improvement followed by a return of catatonic features. is case provides an example of the complexity of treatment of
a patient with a genetic disorder and recurrent catatonia.
1. Introduction
Prader-Willi syndrome (PWS) is a genetic disorder with
an incidence of one in , [] characterized by absence
of expression of one or more paternally inherited genes
on chromosome q-q. ose with PWS have a char-
acteristic phenotype which includes neonatal hypotonia,
hypogonadism, short stature, decreased cognition, and most
classically extreme overeating that can lead to obesity without
food restriction. ere are four genetic mechanisms which
can result in the Prader-Willi genotype. Approximately %
of individuals aected have a de novo deletion of the
paternal chromosome (q-q), % of individuals have
a maternal uniparental disomy (mUPD) with two copies
of maternal chromosome , and the remaining % result
from an imprinting defect or unbalanced chromosomal
translocation []. Previous studies have shown that those
individuals with the mUPD are at a much higher risk for
psychosis than those with PWS due to some other genetic
causes [,]. In addition, individuals with the mUPD had a
greater incidence of recurrent psychiatric episodes and oen
those with recurrences showed deterioration from premorbid
functioning []. e limited studies on PWS consist of case
reports and cohort studies with relatively small sample sizes
due to the low prevalence of this syndrome. One case report
exists describing a -year-old male with Prader-Willi who
presented with catatonia that was resp onsive to pharmacolog-
ical therapy alone []. e goal of this case report is to detail
the clinical course and treatment of catatonia in a patient with
PWS of the mUPD type.
2. Case Report
Ms. Z is a -year-old Caucasian female with Prader-Willi
mUPD type, mild mental retardation (IQ ), and unspeci-
ed mood disorder who presented to the emergency depart-
ment aer her parents reported one month of increasingly
manic behavior and a ten-pound weight loss in ten days.
e patient’s behavior ve to six days before hospital admis-
sion was described as hyperverbal, euphoric, and illogical
with decreased sleep. She then suddenly became mute and
withdrawn exhibiting purposeless movements prompting her
parents to bring her to the hospital.
Ms. Z was diagnosed clinically with Prader-Willi at a
young age with the key features of hyperphagia, short stature,
Hindawi Publishing Corporation
Case Reports in Psychiatry
Volume 2015, Article ID 697428, 4 pages
http://dx.doi.org/10.1155/2015/697428
Case Reports in Psychiatry
hypogonadism, and mental delay all present. It was not until
the age of that she underwent genetic testing revealing
mUPD form of Prader-Willi. In the past, Ms. Z had two
prior hospitalizations at age of and for depression with
catatonia that responded to therapy with lorazepam and
haloperidol. Before her rst hospitalization, Ms. Z had no
signicant psychological history. Since her rst hospitaliza-
tion, she had been maintained on a variety of antipsychotic
and antidepressant regimes for varying diagnosis of mood
disorder not otherwise specied (ICD- F), schizoaec-
tive disorder (ICD- F.), and depression with psychosis
(ICD- F.) while being followed regularly by a pediatric
psychiatrist. Her current home regimen on presentation
consisted of aripiprazole mg daily, lamotrigine mg
daily, and lithium mg two times a day that the patient
was compliant with. At baseline, Ms. Z is able to work part-
time with children under supervision at a local gym and is
described by her parents as very friendly and happy. She lives
with her parents who are very involved in her care.
At initial exam, Ms. Z appeared a well-groomed, obese
young female with stooped posture and mild hand tremor
present bilaterally. She appeared drowsy, lethargic, was tearful
at times, and did not make eye contact but was able to
follow simple commands. She displayed mutism, posturing,
waxy exibility, purposeless movements, repeated shoulder
shrugging, and stereotypy with nger pointing, among other
behaviors. Bush-Francis Catatonia Rating Scale score totaled
/. Her aect was blunted and she was orientated to
person but not place or time. Other portions of the exam
werenotabletobeevaluatedaspatientwasunresponsiveto
questioning. Physical exam was otherwise unremarkable.
During the interview, Ms. Z responded to mg lorazepam
challenge with improved verbal responses although speech
was very slow, so, and words were slurred. Head CT did
not reveal any acute intracranial abnormality and there
was no evidence of seizure on EEG. She was diagnosed
with catatonia with depressed features and admitted to the
inpatient psychiatric unit where she was started on treatment
with lorazepam mg three times a day as well as her home
regimen of antipsychotics.
Over the next days Ms. Z showed minimal improve-
ment with lorazepam which was increased to mg every
hours. Her symptoms would uctuate minimally; at times
she would be more interactive with sta and family and then
return to being withdrawn. During this time, her home regi-
men was adjusted by decreasing the aripiprazole and lithium
and initiating therapy with ziprasidone to help with mood
and psychosis. Due to lack of response to pharmacological
therapy and concern for patient’s well-being with weight loss
and dehydration noted on initial presentation, the decision
was made to begin ECT therapy with a goal of – treatments
delivered every other day. Ms. Z’s parents were supportive of
this decision and provided consent for her treatment.
Lithium was discontinued before the start of ECT (refer
to Table for treatment details) and her morning dose
of lorazepam was held on ECT days. Aer the rst ECT
treatment, Ms. Z had improved mental status for about
minutes and then returned to initial catatonic state. Following
her second treatment with ECT, Ms. Z displayed increased
eye contact, was more verbally responsive, had more energy,
described her mood as “happier,” and showed decreased
psychomotor slowing. During her third ECT session, two
stimuli were given due to poor initial motor and EEG
seizure responses. e following day, Ms. Z appeared more
withdrawn, appeared less interactive with sta, and again
appeared to be responding to internal stimuli. Lamotrigine
was decreased and held nights before ECT treatment to
achieve better ECT response. Lorazepam was also decreased
to improve motor response to ECT.
Aer ECT , the patient’s progress halted. She displayed
increased psychomotor slowing that was very apparent and
Ms. Z became very sedated and some of her presenting
features of catatonia such as waxy exibility returned. She
was spending more time talking to herself and remained
awake for most of the night pacing the hallway. Aer this
notable change, lorazepam was increased due to concern that
the lower dosage was responsible for a return back towards
catatonic state. Ziprasidone was also increased to help with
psychosis.
e following morning, Ms. Z became even more sedated
anddrowsy,sleepingalmosttheentireday.Hermorning
lorazepam was held due to concern over increased sedation
andinthefollowingdaywasagaindecreased.AerECT
, she was talkative, interactive, and more energetic. She
was able to participate in group activities and took part in
dancing, one of her favorite past times. Mini-mental status
exam was performed and the patient received / only
missing points for day of the week and date. Her father
reported at this point that she was “close to baseline.’’
With this improvement, lorazepam was further
decreased. ECT was then performed. e night following
ECT , Ms. Z was noted to be extremely sedated and dicult
to arouse. e next morning she provided minimal responses
to questioning, was seen smiling to herself most of the day,
displayed unsteady gait, increased psychomotor retardation,
and was again very drowsy. She did not have any rigidity or
purposeless movements. It was unclear whether Ms. Z was
moving back towards her catatonic state or if this was just
a normal uctuation of her catatonic state in response to
ECT treatment. Lorazepam was discontinued at this time.
ECT was given and over the next three days Ms. Z
continued to show psychomotor retardation and was mostly
mute but began to engage more on the fourth day. Lastly
ECT was given at % bitemporal energy due to decreased
seizure and waxing/waning mutism displayed at the time.
Following her nal treatment, Ms. Z still displayed some
psychomotor retardation and decreased energy but did have
spontaneous speech. Her parents felt she was about % of
herbaseline.efollowingday,shewasabletobedischarged
home aer days of inpatient treatment. She was discharged
on lamotrigine mg daily, lithium mg three times a day,
and ziprasidone mg daily. At her tenth week of follow-up,
Ms. Z’s mood had improved. She was able to return to work
although she was experiencing some episodes of cataplexy.
Case Reports in Psychiatry
T : ECT treatment course.
ECT Medications Energy/charge Motor/EEG response Clinical response
Ziprasidone mg twice daily, lamotrigine mg
before bed, and lorazepam mg three times daily
% bifrontal
. mc sec motor/ sec EEG
Improved verbal response for min and then back
to catatonic state. roughout the day, patient
became more verbal and coherent and even
expressed humor.
Identical regimen as time point % bifrontal
. mc sec motor/ sec EEG Less interactive, disoriented, with repetitive
movements.
Identical regimen as time point
%/%
bifrontal
. mc
sec motor/ sec EEG
sec motor/ sec EEG
Less energetic, increasingly drowsy, minimal
interaction, decreased sleep, and pacing hallways.
Ziprasidone mg twice daily,
lamotrigine mg b efore b ed, and lorazepam
. mg three times daily
% bifrontal
. mc sec motor/ sec EEG Very drowsy, psychomotor retardation, decreased
sleep, waxy exibility, and increased speech latency.
Ziprasidone mg twice daily,
lamotrigine mg b efore b ed, and lorazepam
. mg three times daily
% bifrontal
. mc sec motor/sec EEG Much more engaged, aware, conversational, and
oriented to situation.
Ziprasidone mg twice a day,
lamotrigine mg before bed (held before ECT),
and lorazepam . twice daily
% bifrontal
. mc sec motor/ sec EEG Waxing/waning mutism, repetitive movements, and
psychomotor retardation.
Ziprasidone mg twice daily,
lamotrigine mg before bed (held before ECT),
and d/c lorazepam
% bifrontal
. mc sec motor/ sec EEG Improved but still with low energy and very drowsy.
Ziprasidone mg am/ mg pm, lamotrigine
mg before bed
% bitemporal
. mc sec motor/ sec EEG Regaining energy, more engaged, with improved
aect.
Morning dose of lorazepam was held in mornings of ECT for better seizure response.
Treatment required two stimuli due to poor motor response.
Case Reports in Psychiatry
Six months aer hospitalization, she had made a full recovery
with no return of catatonic features.
3. Discussion
Catatonia is a recognized syndrome characterized by its
unique set of behavioral abnormalities and response to
benzodiazepines and ECT. Multiple models have been pro-
posed to explain the etiology of these behaviors including
theories on dysfunctional GABA receptors and alterations
to hypothalamic-pituitary axis []. Some also suspect that
there could be a genetic component to the development
of catatonia. Catatonia can be one of the displayed forms
ofpsychosisseeninindividualswithPrader-Williwhichis
caused by an abnormality in chromosome . Similar genes
have been implicated in catatonic schizophrenia and autism
[].
Due to the lack of randomized controlled trials address-
ing the treatment of catatonia, protocol for therapy is mainly
basedoncasereportsandretrospectivestudies.Currently,
benzodiazepines followed by ECT or simultaneous use of
both represents the standard of care. Case series suggest that
benzodiazepines alone have a response rate of %–% [].
For patients with severe catatonia or catatonia refractory to
treatment with benzodiazepines, ECT is the recommended
form of therapy. ere are no current ECT guidelines for
duration of treatment, frequency, strength of treatment, or
electrode placement in patients with catatonia due to lack of
controlled studies using ECT in this target population. One
recent study of patients treated with ECT for catatonia
found the average number of ECT sessions per patient to
be 7.25 ± 2.54 withan.%responserate[]. Varia-
tions in electrical charge delivered and duration of motor
and EEG response can been seen between retrospective
studies.
As seen in this case, the treatment course becomes
complex when dealing with catatonic patients with comorbid
genetic and mood disorders being treated with mood stabi-
lizers and antipsychotics. It becomes dicult to discern what
aspects of treatment are contributing to improvement and
those that may be hindering it. In addition, the response to
ECT can be highly variable among patients and symptoms
can seem to uctuate throughout the course of treatment
as seen with Ms. Z. e study by Raveendranathan et al.
suggests that characteristics such as younger age, duration
of catatonia, and higher Bush Francis may predict bet-
ter response to ECT. One consistent nding among stud-
ies was that earlier diagnosis and treatment of catatonia
led to better outcomes. is stresses the importance of
early recognition of symptoms, diagnosis, and treatment of
catatonia.
A database search locates one other case report of catato-
nia in a patient with Prader-Willi. is case study described
the treatment of a -year-old male with Prader-Willi, who
was diagnosed clinically and had acute onset catatonia which
responded to treatment with lorazepam and risperidone over
atwo-weekperiod[]. Ms. Z who was described here with
Prader-Willi of the maternal uniparental disomy type was
known to have a preexisting mood disorder and received
treatment for recurrent catatonia refractory to treatment with
benzodiazepines.
Consent
Verbal consent for publication was given by patient’s mother.
Conflict of Interests
e authors declare that there is no conict of interests
regarding the publication of this paper.
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