ISSN 1302-6631
 

Case Report 


Incidental diagnosis of mucopolysaccaridosis type III B while following up with ADHD

Nafiye Urgancı, Derya Kalyoncu.

Cited by (2)

Abstract
Mukopolisakaridoz tip III (Sanfilippo sendromu), otozomal resesif kalıtılan heparan sülfat enziminin lizozomal indirgenmesinde rol alan dört enzimden birinin eksikliğine bağlıdır. Çocuklara genellikle geç tanı konur veya yanlışlıkla idiyopatik konuşma gecikmesi, dikkat eksikliği hiperaktivite bozukluğu (DEHB) ve/veya otizm tanısı konur. İlerleyici zihinsel yıkım, davranış sorunları ile daha az belirgin dismorfik yüz bulguları ve hafif bedensel bulgularla karakterizedir. Karın ağrısı nedeniyle çocuk gastroenteroloji bölümüne başvuran ve DEHB’si olan aşırı huzursuz, işbirliği kurulamayan, alınan öyküde geceleri de uyuyamayan, konuşmaya geç başlayan ve bu nedenle defalarca çocuk psikiyatrisine başvurdukları saptanan mukopolisakkaridoz III B tanısı konan olgu sunulmuştur.

Key words: Children; mucopolysaccharidosis; Sanfilippo; attention deficit/hyperactivity disorder



Dikkat eksikliği hiperaktivite bozukluğu tanısı ile izlenirken, tesadüfen tanı konan bir mukopolisakkaridozis tip III B olgusu

Ozet
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is an autosomal recessive disorder caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. Children are often goes unrecognized or misdiagnosed as having idiopathic developmental/speech delay, attention deficit/hyperactivity disorder (ADHD) and/or autism spectrum disorders. It is characterized by progressive mental deterioration and behavioral problems with more or less prominent dysmorphic facial features and mild somatic signs. We report herein a pediatric case of ADHD who was admitted to pediatric psychiatry several times for sleep disturbances, hyperactivity and speech delay and to pediatric emergency department with corrosive substance ingestion and diagnosed as MPS III B.

Anahtar Kelimeler: Çocuk; mukopolisakkaridoz; Sanfilippo; dikkat eksikliği/hiperaktivite bozukluğu


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Nafiye Urgancı
Articles by Derya Kalyoncu
on Google
on Google Scholar


REFERENCES
1. Aysev AS. Dikkat eksikliði hiperaktivite bozukluðu. Ege Psikiyatri Sürekli Yayýnlarý, 2001; 3:417-425.
2. Berwid, OG, Kera C, Marks EA, Santra DJ, Bender A, Halperin HA. Sustained attention and response inhibition in young children at risk for Attention Deficit/Hyperactivity Disorder. J Child Psychol 2005; 46(11):1219-1229. [DOI via Crossref]    [Pubmed]   
3. Schachar R, Mota VL, Logan GD, Tannock R, Klim P. Confirmation of an inhibitory control deficit in attention-deficit/hyperactivity disorder. J Abnorm Child Psychol 2000; 28(3):227-235. [DOI via Crossref]    [Pubmed]   
4. Hales RE, Yudofsky SC. American Psychiatric Publishing Textbook of Clinical Psychiatry. Fourth ed., Washington DC, 2003, p.838.
5. Castellanos FX. Toward a pathophsiology of attention deficit hyperactvity disorder. Clin Pediatrics 1997; 36(7):381-393. [DOI via Crossref]   
6. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281:249-254. [DOI via Crossref]    [Pubmed]   
7. Delgadillo V, O'Callaghan Mdel M, Gort L, Coll MJ, Pineda M. Natural history of Sanfilippo syndrome in Spain. Orphanet J Rare Dis 2013; 8:189. [DOI via Crossref]    [Pubmed]    [PMC Free Fulltext]   
8. Cleary MA, Wraith JE. Management of mucopolysaccharidosis type III. Arch Dis Child 1993; 69:403-406. [DOI via Crossref]   
9. Moog U, Van Mierlo I, Spaapen L, Spaapen L, Maaskant MA, Curfs LM. Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? Am J Med Genet C Semin Med Genet 2007; 145:293-301.
10. Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, et al. Mucopolysaccharidosis type III B may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis 2010; 33:759-767. [DOI via Crossref]    [Pubmed]    [PMC Free Fulltext]   
11. Kýlýç M, Kalkanoðlu S, Tokatlý A, Dursun A, Coþkun T. Mukopolisakkaridozlar: Üç yýllýk Hacettepe deneyimi. J LSD 2010; 2:83.
12. Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A 2003; 15:310-313. [DOI via Crossref]    [Pubmed]   
13. Sibilio M, Miele E, Ungaro C, Astarita L, Turco R, Di Natale P, et al. Chronic diarrhea in mucopolysaccharidosis III B. J Pediatr Gastroenterol Nutr 2009; 49(4):477-480. [DOI via Crossref]    [Pubmed]   
14. Malinowska M, Wilkinson FL, Bennett W, Langford-Smith KJ, O'Leary HA, JakobkiewiczBanecka J, et al. Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide III B mice. Mol Genet Metab 2009; 98:235- 242. [DOI via Crossref]    [Pubmed]   

This Article Cited By the following articles

Successful treatment of attention-deficit/hyperactivity disorder accompanying to alkaptonuria with methylphenidate and risperidone
Psychiatry and Clinical Psychopharmacology 2019; 29(1): 110.

1
 
Successful treatment of attention-deficit/hyperactivity disorder accompanying to alkaptonuria with methylphenidate and risperidone
Psychiatry and Clinical Psychopharmacology 2018; (): 1.

2
 
How to Cite this Article
Pubmed Style

Nafiye Urganci, Derya Kalyoncu. [Incidental diagnosis of mucopolysaccaridosis type III B while following up with ADHD]. Anadolu Psikiyatri Derg. 2016; 17(Supplement 3): 41-44. Turkish. doi:10.5455/apd.216990


Web Style

Nafiye Urganci, Derya Kalyoncu. [Incidental diagnosis of mucopolysaccaridosis type III B while following up with ADHD]. http://www.anadolupsikiyatri.net/?mno=216990 [Access: November 18, 2020]. Turkish. doi:10.5455/apd.216990


AMA (American Medical Association) Style

Nafiye Urganci, Derya Kalyoncu. [Incidental diagnosis of mucopolysaccaridosis type III B while following up with ADHD]. Anadolu Psikiyatri Derg. 2016; 17(Supplement 3): 41-44. Turkish. doi:10.5455/apd.216990



Vancouver/ICMJE Style

Nafiye Urganci, Derya Kalyoncu. [Incidental diagnosis of mucopolysaccaridosis type III B while following up with ADHD]. Anadolu Psikiyatri Derg. (2016), [cited November 18, 2020]; 17(Supplement 3): 41-44. Turkish. doi:10.5455/apd.216990



Harvard Style

Nafiye Urganci, Derya Kalyoncu (2016) [Incidental diagnosis of mucopolysaccaridosis type III B while following up with ADHD]. Anadolu Psikiyatri Derg, 17 (Supplement 3), 41-44. Turkish. doi:10.5455/apd.216990



Turabian Style

Nafiye Urganci, Derya Kalyoncu. 2016. [Incidental diagnosis of mucopolysaccaridosis type III B while following up with ADHD]. Anatolian Journal of Psychiatry, 17 (Supplement 3), 41-44. Turkish. doi:10.5455/apd.216990



Chicago Style

Nafiye Urganci, Derya Kalyoncu. "[Incidental diagnosis of mucopolysaccaridosis type III B while following up with ADHD]." Anatolian Journal of Psychiatry 17 (2016), 41-44. Turkish. doi:10.5455/apd.216990



MLA (The Modern Language Association) Style

Nafiye Urganci, Derya Kalyoncu. "[Incidental diagnosis of mucopolysaccaridosis type III B while following up with ADHD]." Anatolian Journal of Psychiatry 17.Supplement 3 (2016), 41-44. Print.Turkish. doi:10.5455/apd.216990



APA (American Psychological Association) Style

Nafiye Urganci, Derya Kalyoncu (2016) [Incidental diagnosis of mucopolysaccaridosis type III B while following up with ADHD]. Anatolian Journal of Psychiatry, 17 (Supplement 3), 41-44. Turkish. doi:10.5455/apd.216990