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.

Mukopolisakaridoz tip III (Sanfilippo sendromu), otozomal resesif kalitilan heparan sülfat enziminin lizozomal indirgenmesinde rol alan dört enzimden birinin eksikligine baglidir. Çocuklara genellikle geç tani konur veya yanlislikla idiyopatik konusma gecikmesi, dikkat eksikligi hiperaktivite bozuklugu (DEHB) ve/veya otizm tanisi konur. Ilerleyici zihinsel yikim, davranis sorunlari ile daha az belirgin dismorfik yüz bulgulari ve hafif bedensel bulgularla karakterizedir. Karin agrisi nedeniyle çocuk gastroenteroloji bölümüne basvuran ve DEHB’si olan asiri huzursuz, isbirligi kurulamayan, alinan öyküde geceleri de uyuyamayan, konusmaya geç baslayan ve bu nedenle defalarca çocuk psikiyatrisine basvurduklari saptanan mukopolisakkaridoz III B tanisi konan olgu sunulmustur.