Otizm Benzeri Davranış ve Atipik Psikotik Belirtileri Olan Lujan-Fryns Sendromu Fenotipi: Olgu Sunumu

Bahadır GENİŞ, Ferit ŞAHİN, Behcet COŞAR
2020; 31(3): 216-220
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Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report

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.
Key Words: Lujan Fryns Syndrome, psychotic disorders, autism, MED 12, delusion, Fragile X syndrome