Co-morbid psychiatric disorders in children with arachnoid cyst.

Arachnoid Cysts (AC) are benign lesions containing cerebrospinal fluid, and although most of them are asymptomatic, they can cause neurological symptoms like headaches, seizures, and neuropsychiatric problems. The aim of this study was to asses and document co-morbid psychiatric disorders in children with AC aged between 6 and 17. Wechsler Abbreviated Scale of Intelligence-Second Edition (WASI-II), a clinical measure used to assess the intelligence quotient (IQ) scores of the patients, Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version (K-SADS-PL; semi-structured interview) was used to assess psychiatric disorders among the patients. A total of 12 patients with AC was evaluated with an even distribution of males and females. Half of the patients had a normal IQ score with a mean IQ score of 104.5. Among patients with normal IQ scores, one patient had epilepsy and attention deficit hyperactivity disorder and two patients had epilepsy without any psychiatric disorder. The remaining six patients had moderate intellectual disability with a mean IQ of 48.2. Among them, three out of six had epilepsy and four had accompanying psychiatric disorders. It is therefore apparent that patients with AC have a high rate of co-morbid psychiatric disorders. Our study demonstrates that intellectual disability and psychiatric disorders should be evaluated in children with AC in the clinical settings.

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.

Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function or structure in various organs are affected. Here, we report a 17-year-old male whose main clinical findings are oculomotor apraxia and truncal ataxia. Magnetic resonance imaging revealed the characteristic molar tooth sign of Joubert syndrome. He also has obsessive-compulsive disorder concomitantly, which is not a known feature of Joubert syndrome. Molecular genetic analysis revealed a homozygous c.2106G>A (p.(Thr702=)) variation in the Abelson helper integration 1 (AHI1) gene and another homozygous c.1739C>T (p.Thr580Ile) variation in the coiled-coil and C2 domain-containing protein 1A (CC2D1A) gene. Even though certain AHI1 variations were previously associated with Joubert syndrome (JS), c.2106G>A (p.(Thr702=)) was only reported in one patient in trans with another known pathogenic JS variant. The CC2D1A c.1739C>T (p.Thr580Ile) variation, on the other hand, has been reported to cause autosomal recessive nonsyndromic mental retardation, but there are conflicting interpretations about its pathogenicity. Overall, to our knowledge, this is the first patient representing a severe ciliopathy phenotype caused by a homozygous synonymous AHI1 variation. Further investigations should be performed to determine any involvement of the CC2D1A gene in ciliopathy phenotypes such as Joubert syndrome.