Neuropediatrics 2018; 49(S 02): S1-S69
DOI: 10.1055/s-0038-1675965
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Georg Thieme Verlag KG Stuttgart · New York

P 329. Patients with Juvenile Huntington’s Disease Benefit from Early Diagnosis

Charlotte Thiels
1  Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Children’s University Hospital, Ruhr-University Bochum, Bochum, Germany
,
Carsten Saft
2  Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany
,
Anna Stahl
1  Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Children’s University Hospital, Ruhr-University Bochum, Bochum, Germany
,
Kristine Adam
1  Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Children’s University Hospital, Ruhr-University Bochum, Bochum, Germany
,
Thomas Lücke
1  Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Children’s University Hospital, Ruhr-University Bochum, Bochum, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
30 October 2018 (online)

 

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.