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Journals / Türk Psikiyatri Dergisi / 2020 / Cilt: 31 - Sayı: 3

Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report

Otizm Benzeri Davranış ve Atipik Psikotik Belirtileri Olan LujanFryns Sendromu Fenotipi: Olgu Sunumu

Bahadır GENİŞ
Ferit ŞAHİN
Behçet COŞAR
Pages
216–220
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Although it is not easy to fully define or classify these syndromes, we believe every reported case will be a step in overcoming these difficulties.

📌 3 Key Takeaways

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Objective & Hypothesis:Lujan-Fryns Syndrome (LFS) is defined as a set of symptoms including mild-moderate mental retardation, marfanoid appearance, hypotonia at birth, hypernasal speech, characteristic craniofacial appearance and normal testis size.
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Key Findings & Data:The 29-year old male patient had mental retardation, aggression, and persecutory delusions, characteristic craniofacial and marfanoid features.
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Conclusion & Impact:Although it is not easy to fully define or classify these syndromes, we believe every reported case will be a step in overcoming these difficulties.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Lujan-Fryns Syndrome (LFS) is defined as a set of symptoms including mild-moderate mental retardation, marfanoid appearance, hypotonia at birth, hypernasal speech, characteristic craniofacial appearance and normal testis size. The frequency of the syndrome is not known thus the information obtained is solely based on case reports. Hereby, we present a patient with LFS diagnosis. The 29-year old male patient had mental retardation, aggression, and persecutory delusions, characteristic craniofacial and marfanoid features. During his speech pronominal reversal was observed (‘the hurt him, he is so upset’ when talking abour himself). After examination and genetic analysis, fragile X, Klinefelter, Marfan and Down syndromes and homocystinuria were eliminated as causes of mental retardation. A preliminary diagnoses of LFS done. No mutation was detected in exon 22 of the MED12 gene; but. Whole Exome Sequencing (WES) is ongoing. The patient was started on risperidone (4 mg/day) for psychotic symptoms and carbamazepine (200 mg/day) for impulse control and as an antiepileptic. After a follow up of 8 months, impulse control, psychotic symptoms and aggression improved significantly. Since the specific gene mutation of LFS was not determined in our case, we solely had to depend on clinical evaluation and genetic analysis. Although it is not easy to fully define or classify these syndromes, we believe every reported case will be a step in overcoming these difficulties.

Özet

Lujan-Fryns Sendromu (LFS) hafif-orta dereceli mental retardasyon, marfanoid görünüm, doğumda hipotoni, hipernazal konuşma, karakteristik kraniyofasiyal görünüm ve normal testis boyutunu içeren bir dizi semptom olarak tanımlanmaktadır. LFS ile ilgili herhangi bir epidemiyolojik veri yoktur. Elde edilen bilgiler olgu raporlarına dayanmaktadır. Biz de burada LFS tanılı bir hastayı sunuyoruz. 29 yaşındaki erkek hastanın zihinsel geriliği, saldırganlığı, persekütuar sanrıları, kendisine referansla “Ona zarar verdiler. O çok üzgün.” gibi ters zamir kullanma, karakteristik kraniyofasiyal ve marfanoid görünümü vardı. Muayene ve genetik analizden sonra, zekâ geriliği nedeni olarak Frajil X, Klinefelter, Marfan ve Down sendromları ile homosistinüri elimine edildi. LFS ön tanıydı. MED12 geninin 22. ekzomunda mutasyon saptanmadı; ancak hasta şu anda Tüm Ekzom Dizisi (WES) için değerlendirilmektedir. Hastaya psikotik semptomlar için risperidon (4 mg/gün) ile impuls kontrolü ve antiepileptik etki için karbamazepin (200 mg/gün) başlandı. Yaklaşık 8 aylık takipten sonra dürtü kontrolü, psikotik belirtileri ve saldırganlık belirgin şekilde düzeldi. LFS’nin spesifik gen mutasyonu belirlenmediğinden, vaka teşhisi klinik değerlendirmeye ve genetik analize bağlı olmak zorundaydı. Bu sendromları tam olarak tanımlamak veya sınıflandırmak kolay olmamakla birlikte, bildirilen her vaka bu zorlukların üstesinden gelmede bir adım olacaktır.

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Cite This Article

GENİŞ, B., ŞAHİN, F., COŞAR, B. (2020). Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report. Türk Psikiyatri Dergisi, Cilt: 31 - Sayı: 3, 216–220. https://ajindex.com/articles/209856

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