Is Aripiprazole The Most Appropriate Option In The Treatment Of Niemann Pick Type C Disease Psychosis?
Yıl 2021,
, 182 - 186, 30.03.2021
Yüksel Sümeyra Karagöz
,
Pınar Uran Şenol
,
Birim Kılıç
Öz
Niemann Pick Type C (NPC) is a rare autosomal recessive lysozomal depot disease. It has highly heterogeneous appearance characterized by progressive neurological deterioration and premature death. The disease manifests itself as visceral, neurological, psychiatric disorders alone or in various combinations. The clinical presentation varies according to the age of onset. A 17-year-old girl was referred with the diagnosis of NP-C, consulted by Pediatric Metabolism Department due to the referential and persuasion delusions. After Psychiatric examination and psychometric evaluations the patient was given the diagnosis of acute psychotic episode and mental retardation. We started the risperidone treatment after evaluations. After risperidone treatment epileptic seizures have occurred. After controlling the seizures, we switched the risperidone treatment to aripiprazole. Aripiprazole treatment and psychosocial intervention of the patient whose psychotic symptoms have diminished continues. NP-C disease is a rare disease and may cause psychiatric symptoms. The questioning of developmental history and associated neurological symptoms in juvenile-onset psychotic conditions may suggest underlying NP-C disease. There is no much research with respect to treatment of psychiatric symptoms seen in NP-C. In this case report, the treatment of NP-C disease with psychiatric symptoms and treatment of psychiatric symptoms were emphasized. Aripipirazole might be an option for treatment of psychotic symptoms seen in NP-C.
Kaynakça
- 1. Patterson MC, Hendriksz CJ, Walterfang M et al., Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106:3:330–344.
- 2. Platt FM, Boland B, van der Spoel AC. The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomaldysfunction. J Cell Biol. 2012;26;199:5:723-34. doi: 10.1083/jcb.201208152.
- 3. Madra M, Sturley SL. Niemann-Pick type C pathogenesis and treatment: from statins to sugars. ClinLipidol. 2010;1;5:3:387-395.
- 4. Rosenbaum AI, Maxfield FR. Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches. J Neurochem 2011;116:5:789-95. doi: 10.1111/j.1471-4159.2010.06976.x.
- 5. Imrie J, Vijayaraghaven S, Whitehouse C et al., Niemann-Pick disease type C in adults. J Inherit Metab Dis. 2002;25:6:491–500.
- 6. Iturriaga C, Pineda M, Fernández-Valero EM et al., Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. JNeurol Sci. 2006;1;249:1:1-6.
- 7. Actelion, miglustat (Zavesca) Summery of product characteristics. EMA (EudraPharm); 2010. http://www.ema.europa.eu/
- 8. Sévin M, Lesca G, Baumann N et al., The adult form of Niemann-Pick disease type C. Brain. 2007;130:1:120-33.
- 9. Patterson MC, Mengel E, Wijburg FA et al., Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013;8:12.
- 10. Bonnot O, Klünemann HH, Velten C et al., Systematic review of psychiatric signs in Niemann-Pick disease type C. World J Biol Psychiatry. 2019;20:4:320-332. doi: 10.1080/15622975.2018.1441548.
- 11. Bonnot O, Klünemann HH, Sedel F et al. Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review. Orphanet J Rare Dis. 2014;28;9:65. doi: 10.1186/1750-1172-9-65.
- 12. Evans WR, Hendriksz CJ. Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment. BJPsych Bull. 2017;41:2:109-114. doi: 10.1192/pb.bp.116.054072.
- 13. Wouters S, De Meirleir L, Campforts E, Lampo A. Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease. ChildAdolesc Psychiatry Ment Health. 2014; 11;8:20.
- 14. Sandu S, Jackowski-Dohrmann S, Ladner A et al., Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. Eur Child Adolesc Psychiatry. 2009;18:9:583–585.
- 15. Szakszon K, Szegedi I, Magyar A et al., Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient. Eur J Paediatr Neurol. 2013;18:1:75–78.
Aripiprazol Nieman Pick Psikozunda en uygun tedavi seçeneği midir ?
Yıl 2021,
, 182 - 186, 30.03.2021
Yüksel Sümeyra Karagöz
,
Pınar Uran Şenol
,
Birim Kılıç
Öz
Niemann Pick Tip C (NPC) nadir görülen otozomal resesif lizozomal depo hastalığıdır. Progresif nörolojik bozulma ve erken ölüm ile karakterize oldukça heterojen bir görünüme sahiptir. Hastalık kendisini tek başına veya çeşitli kombinasyonlarda visseral, nörolojik, psikiyatrik bozukluklar olarak gösterir. Klinik tablo başlangıç yaşına göre değişir. Çocuk Metabolizması Bölümü'nden NP-C tanısı ile takipli 17 yaşında kız hasta referansiyel ve perseküsyon sanrıları nedeniyle danışıldı. Yapılan psikiyatrik muayene ve psikometrik değerlendirmelerden sonra hastaya akut psikotik atak ve mental retardasyon tanısı konuldu. Değerlendirmelerden sonra risperidon tedavisine başlandı. Risperidon tedavisinden sonra epileptik nöbetler meydana geldi. Nöbetleri kontrol ettikten sonra risperidon tedavisini aripiprazole çevirildi. Psikotik belirtileri azalan hastanın aripiprazol tedavisi ve psikososyal müdahalesi devam etmektedir. NP-C hastalığı nadir görülen bir hastalıktır ve psikiyatrik semptomlara neden olabilir. Juvenil başlangıçlı psikotik durumlarda gelişim öyküsü ve ilişkili nörolojik semptomların sorgulanması, altta yatan NP-C hastalığını düşündürebilir. NP-C'de görülen psikiyatrik semptomların tedavisi ile ilgili çok fazla araştırma bulunmamaktadır. Bu olgu sunumunda NP-C hastalığının psikiyatrik semptomlarla tedavisi ve psikiyatrik semptomların tedavisi vurgulanmıştır. Aripipirazol, NP-C'de görülen psikotik semptomların tedavisi için bir seçenek olabilir.
Kaynakça
- 1. Patterson MC, Hendriksz CJ, Walterfang M et al., Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106:3:330–344.
- 2. Platt FM, Boland B, van der Spoel AC. The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomaldysfunction. J Cell Biol. 2012;26;199:5:723-34. doi: 10.1083/jcb.201208152.
- 3. Madra M, Sturley SL. Niemann-Pick type C pathogenesis and treatment: from statins to sugars. ClinLipidol. 2010;1;5:3:387-395.
- 4. Rosenbaum AI, Maxfield FR. Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches. J Neurochem 2011;116:5:789-95. doi: 10.1111/j.1471-4159.2010.06976.x.
- 5. Imrie J, Vijayaraghaven S, Whitehouse C et al., Niemann-Pick disease type C in adults. J Inherit Metab Dis. 2002;25:6:491–500.
- 6. Iturriaga C, Pineda M, Fernández-Valero EM et al., Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. JNeurol Sci. 2006;1;249:1:1-6.
- 7. Actelion, miglustat (Zavesca) Summery of product characteristics. EMA (EudraPharm); 2010. http://www.ema.europa.eu/
- 8. Sévin M, Lesca G, Baumann N et al., The adult form of Niemann-Pick disease type C. Brain. 2007;130:1:120-33.
- 9. Patterson MC, Mengel E, Wijburg FA et al., Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013;8:12.
- 10. Bonnot O, Klünemann HH, Velten C et al., Systematic review of psychiatric signs in Niemann-Pick disease type C. World J Biol Psychiatry. 2019;20:4:320-332. doi: 10.1080/15622975.2018.1441548.
- 11. Bonnot O, Klünemann HH, Sedel F et al. Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review. Orphanet J Rare Dis. 2014;28;9:65. doi: 10.1186/1750-1172-9-65.
- 12. Evans WR, Hendriksz CJ. Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment. BJPsych Bull. 2017;41:2:109-114. doi: 10.1192/pb.bp.116.054072.
- 13. Wouters S, De Meirleir L, Campforts E, Lampo A. Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease. ChildAdolesc Psychiatry Ment Health. 2014; 11;8:20.
- 14. Sandu S, Jackowski-Dohrmann S, Ladner A et al., Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. Eur Child Adolesc Psychiatry. 2009;18:9:583–585.
- 15. Szakszon K, Szegedi I, Magyar A et al., Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient. Eur J Paediatr Neurol. 2013;18:1:75–78.