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

Mukopolisakaridoz tip III veya Sanfilippo sendromu, otozomal çekinik kalıtılan heparan sülfat enziminin lizozomal indirgenmesinde rol alan dört enzimden birinin eksikliğine bağlıdır. Çocuklara genellikle geç tanı konur veya yanlışlıkla idyopatik konuşma gecikmesi, dikkat eksikliği hiperaktivite bozukluğu (DEHB) ve/veya otizm tanısı konmaktadır. 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. (Anadolu Psikiyatri Derg 2016; 17(3):41-44).

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

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 behavioural 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. (Anatolian Journal of Psychiatry 2016; 17(Suppl.3):41-44).

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