Background: When psychiatric symptoms are the leading or sole symptom in a neurologic disease,
specific treatment may be lacking because therapy is only based on psychiatric guidelines.
For Huntington’s disease (HD) patients, who present initially with only psychiatric
symptoms appropriate treatment is often not started until final diagnosis is made.
Case Reports:
Patient 1: First appointment at our Huntington Center NRW at the age of 13 years. Beginning
at elementary school, he showed symptoms of ADHS, progressing to oppositional defiant
and disruptive disorder with assault and theft. An inpatient stay for diagnostic investigation
on a pediatric psychiatric ward was demanded by child protective/social services.
Typical medication with the above-named behavioral symptoms such as methylphenidate
and risperidone, respectively, as well as educational measures did not show the desired
influence on the overall situation. Court threatened an involuntary commitment. Family
history shows a multiple maternal HD burden, which was known but initially not associated
with psychiatric symptoms and later not followed through. On top it was repressed
by the family. During the outpatient visit, the patient did not only show the psychiatric
symptoms but also a mild tremor, a mild dysmetria, and signs of dementia. Analysis
of the huntingtin gene showed a repeat of 63 CAG triplets. We started with zuclopenthixol
concomitant to risperidone which stabilized the situation to the extent that an involuntary
commitment is not further necessary. The HD diagnosis eased the burden for the family,
therapists, and teachers.
Patient 2: The patient was deferred to us with a severe depression at the age of 16 years.
Her mother was diagnosed with HD and had died since. From birth the patient lived
with foster parents. Beginning at school age, she showed signs of ADHS and as an adolescent,
a dysfunction of fine motor skills. At the age of 15 years, she became severely depressed
and was treated on a pediatric psychiatric ward for a year. She continuously expressed
suicidal thoughts and attempted suicide. SSRI and other antidepressants were tried
as well as psychotherapy without improvement. She showed increasing lack of impulse
control. During the outpatient visit, the patient showed a mild bradykinesia. Huntingtin
gene analysis showed an increase of triplet repeat to 47. Clozapine, low-dose risperidone,
and initially methylphenidate improved the situation. As of now, the patients have
lived in an institution stable and independently for 3 years. The HD diagnosis has
eased the burden in regard to school and future plans.
Conclusion: HD may start with psychiatric symptoms, namely, with behavioral salience and/or a
nonclassical AD(H)S. A positive family history for HD is the determining anamnestic
clue. For underage patients, genetic analysis is only permitted for diagnostic purposes.
That is why sometimes with allegedly solely psychiatric symptoms, one has to actively
search for neurologic symptoms. The genetically confirmed diagnosis of an HD during
childhood and adolescence relieves and allows for more specific therapy in line with
recommendations for HD patients. This leads in general to an improved social situation
for the patient and his family.
