Although genetic factors have been thought to be main cause for gender dysphoria, its etiology is still not clearly understood. Klinefelter syndrome is the most seen sex chromosomal disorder. In the literature, there are fewer case reports in connection with Klinefelter syndrome and gender dysphoria. Herein, we report a 16-year-old adolescent patient displaying gender dysphoria features, who has revealed Klinefelter syndrome after genetic examination, and has been treated with testosterone hormone, and his gender dysphoria symptoms have disappeared. In our case, chromosomal anomaly and lower levels of androgen could play a role in the etiopathogenesis of gender dysphoria. Bringing Klinefelter syndrome disorder to mind in gender dysphoria cases, even it is a rare disorder, could positively affect the course of the treatment as was in our case. The relation between psychiatric symptoms, which can be seen in gender dysphoria, and testosterone is not known exactly. Further studies, which are randomized-controlled ones, can help to better understand the subject.
Mucopolysaccharidosis type III (MPS-III, Sanflippo syndrome) is one of the lysosomal storage diseases characterized by four different enzymes playing a role in catabolism of heparan sulfate substance. Type IIIB (Sanflippo B), one of them, is characterized by alpha-Nacetylglucosaminidase (NAGLU) enzyme deficiency and results in accumulation and storage of heparan sulfate in central nervous system, and then emerges itself with developmental deficiency, coarse facial features, delay in speech, mental retardation, hyperactivity, impulsivity, aggressive and disruptive behaviors, difficulty in establishing social relations, aimless hand movements, inadequate eye contact, and sleep disturbances. There are a few studies related to the treatment of neuropsychiatric symptoms of these patients. In this case, atomoxetine treatment added was shown to be effective, safe and tolerable, because risperidone treatment that the patient took was not effective in hyperactivity symptoms. A 12-year-old girl, diagnosed with MPS type IIIB (NAGLU deficiency; OMIM# 252920) when she was 5 years old, was admitted to our clinic with symptoms of hyperactivity, short span of attention, aggressive behavior, and quasi-autistic symptoms such as aimless hand movement, with risperidone use at 1.5 mg/day for approximately 1 year. After clinical and psychometric examinations, she was diagnosed with "mild mental retardation" and "attention deficit hyperactivity disorder". Atomoxetine was added at a dose of 0.5 mg/kg/day to her risperidone treatment and its dosage was gradually increased up until to 1.4 mg/kg/day. Over the followup period, her attention deficit and hyperactivity disorder (ADHD) symptoms were ameliorated, reported by both her teachers and her parents via rating scales of ADHD. Her hyperactivity and irritability levels were noticed as decreased and improved over evaluation process throughout clinical interviews. Through atomoxetine treatment process, there was not any adverse effect.
SUMMARYDiGeorge Syndrome (DGS) is the most seen microdeletion syndrome and its prevalance varies from 1/4000 to 1/6000. Over embriogenesis, a deletion of an approximately 3 Mb frame from 22q11.2 results in this syndrome and its clinical features varies from congenital heart and gross vessels anomalies, hypocalcemia, respiratory problems, leucomotor or urogenitale system anomalies, hearing loss, to developmental delay. Alongside different clinical features and phenotypes, these patients should be followed up on psychiatric symptoms and disorders such as speech delay, specific learning difficulties (SLD), mental retardation, attention deficit hyperactivity disorder (ADHD), autism, anxiety, depression and even schizophrenia and other pcychotic disorders. This case, diagnosed with partial DGS and followed by immunology, cardiology, endocrinology and neurology departments, admitted to our clinic on account of his difficulties in learning and inattention. The patient was diagnosed with ADHD and SLD, then pharmacotherapy and individual educational programme were planned. The insufficient expression of the catecolamine-O-methyltransferase (COMT) gene located in the 22q11.2 gene could very well play a role in both the etiology of ADHD and SLD. There is still no clear causative relation between these, so there is a need to clarify this with further studies. As seen in our case, the patients with DGS and having some inattention or learning difficulties are needed to be examined by the child psychiatrists. Treatment protocols related to these patients' symptoms would be evaluated with a multidisciplinary attitude.Key Words: DiGeorge syndrome, Attention deficit hyperactivity disorder, Specific Learning Disorder ÖZET DiGeorge sendromu (DGS) en sýk görülen mikrodeles yon sendromu olup prevalansý 1/4000-1/6000 arasýnda deðiþmektedir. Embriyogenezis sýrasýnda 22q11.2'de yaklaþýk 3 megabaytlýk (Mb) bir bölgenin kaybý nedeni ile ortaya çýkan sendromun kliniði oldukça deðiþkendir. Konjenital kalp ve büyük damar anomalileri, hipokalsemi, respiratuar yetmezlik, kas-iskelet, ürogenital sistem geliþimsel anomalileri, duyma kaybý, büyüme geriliði gibi bulgular görülebilir. Çeþitli klinik tablo ve fenotiplerle karþýmýza çýkan bu hastalarýn psikiyatrik açýdan da izlemi gerekir, konuþma gecikmesi, özgül öðrenme bozukluðu, mental retardasyon, dikkat eksikliði hiperaktivite bozukluðu, otizm, anksiyete, depresyon, þizofreni ve diðer psikotik hastalýklar tabloya eþlik edebilir. Bu yazýda tartýþýlan olgu, parsiyel DGS tanýsý ile immunoloji, kardiyoloji, endokrinoloji ve nöroloji kliniklerinde takipli iken, okuma-yazma öðrenmede güçlük çekmesi ve dikkatinin daðýnýk olmasý nedeniyle çocuk ve ergen psikiyatrisi polikliniðine getirilmiþ, dikkat eksikliði hiperaktivite bozukluðu (DEHB) ve özgül öðrenme bozukluðu (ÖÖB) tanýlarýnýn konulmasýyla ilaç tedavisi ve bireysel eðitim programý almýþtýr. DEHB ve ÖÖB eti yolojisinde 22q11.2'de yerleþmiþ COMT geninin yetersiz ekspresyonu rol oynamýþ olabilir, henüz aradaki nedensel iliþki net olarak ortaya konul...
Akut dissemine ensefalomiyelit (ADEM) santral sinir sisteminin immün aracılı demiyelinizan bir hastalığıdır. Literatürde ADEM geçiren çocukların yaşam boyu bilişsel süreçleri ile ilgili bilinen çok azdır. Bugüne kadar, yalnızca birkaç çalışma ve olgu sunumunda ADEM sonrası dikkat, sözel bellek, kısa süreli bellek, bilginin işlenmesi ve işlemleme hızı, dürtü kontrolü, yürütücü işlevler ve görsel-uzaysal beceriler gibi bilişsel işlev alanlarında hafif bozulmalar olduğu, öğrenme güçlükleri ve okul başarısızlığı gözlendiği bildirilmiştir.Özgül öğrenme güçlüğü (ÖÖG) bireyin yaş, zeka düzeyi ve aldığı eğitim ile açıklanamayan okuma, yazma, matematik alanlarından biri veya birkaçında, bireyin günlük işlevselliğini bozacak kadar, beklenen düzeyin altında kalması durumudur. Genel olarak ÖÖG etiyolojisinde kalıtımsal etkenlerin önemine vurgu yapılsa da, kesin etiyolojik faktörler henüz tam olarak ortaya konulamamıştır. Özellikle erken çocukluk döneminde geçirilen ADEM nedeniyle öğrenmeyle ilişkili becerilerin görece immatür kalabileceği, bu çocukların özellikle bilgi işlemleme bozukluklarına eğilimli olabileceği, sosyal gelişim ve öğrenmenin engellenebileceği bazı olgu sunumlarında ifade edilmiştir.Bu olgu sunumumuzda okuma-yazma sorunları nedeniyle çocuk psikiyatrisi polikliniği başvurusu olan, erken çocukluk döneminde geçirilmiş ADEM öyküsü olduğu saptanan ve ÖÖG tanısı alan olgumuz aracılığı ile ADEM'in ÖÖG etiyolojisindeki olası rolünün tartışılması amaçlanmıştır. Literatür gözden geçirildiğinde ADEM ve ÖÖG arasında henüz net olmayan bir nedensellik ilişkisi olabileceği, gelecekte geniş örneklemlere sahip prospektif olarak planlanmış kohort çalışmaları ile bu olası ilişkinin değerlendirilmesinin ÖÖG etiyolojisini aydınlatma açısından yararlı olacağı düşünülmüştür.
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