Cat-eye syndrome (a psychiatric aspect)

Макаров, И. А.; Gavrilina, S B; Belozerov, B G

doi:10.17116/jnevro201911911160

Cited by 4 publications

(2 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition, renal and gastrointestinal malformations have been reported in severe cases. Although cognition is usually normal, 30% of patients have an intellectual deficit [ 8 ]. In conclusion, CES has a variable clinical spectrum, from patients with minor dysmorphias to patients with severe malformations.…”

Section: Introductionmentioning

confidence: 99%

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family

Wang,

Zhang,

Chai

et al. 2023

Mol Cytogenet

View full text Add to dashboard Cite

Purpose This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family. Case presentation The proband, a 23-year-old female, exhibited a diminutive cornea and complete blindness in her right eye, and the uncorrected distance visual acuity of her left eye was 0.7 LogMAR. Peripheral blood chromosome karyotyping reveal a karyotype of 47, XX, + mar. Subsequent analysis of chromosome copy number variation unveiled a 1.5 Mb duplication in the 22q11.1q11.21 region of the proband. The proband's mother,aged 49, displayed small eyes, wide-set eyes, downward slanting eyelids, and congenital heart disease. Chromosome copy number variation analysis also showed a 1.55 Mb duplication in the 22q11.1q11.21 region of chromosome 22 in the proband's mother. Ultimately, both members of this family were diagnosed with cat eye syndrome. Conclusion Cat eye syndrome is a rare genetic disorder that greatly affects patients' lives and requires personalized treatment. This study provides new evidence for a better understanding of the diagnosis of cat eye syndrome and emphasizes the importance of genetic counseling and supervision.

show abstract

Section: Introductionmentioning

confidence: 99%

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family

Wang,

Zhang,

Chai

et al. 2023

Mol Cytogenet

View full text Add to dashboard Cite

show abstract

“…The eponym was attributed in relation to the shape of the iris with classical coloboma. However, it may show variable clinical spectrum, ranging from patients with normal intelligence and minor dysmorphic features, like hypertelorism, down slanting palpebral fissures and preauricular pits, to those with major heart and renal malformations along with intellectual disability (observed in 30% of cases) [1,2].…”

Section: Introductionmentioning

confidence: 99%

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

et al. 2022

View full text Add to dashboard Cite

Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2). Case presentation We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including hypertelorism, down slanted palpebral fissures, and dysplastic ears with tragus hypoplasia and pre-auricular pit. Ophthalmologic evaluation and heart ultrasound identified left chorioretinal and iris coloboma and ostium secundum type atrial septal defect, respectively. Based on the suspicion of cat eye syndrome, a standard karyotype analysis was performed, and detected an extra small marker chromosome confirming the CES diagnosis. The chromosomal abnormality was then defined by array comparative genome hybridization (a-CGH, performed also in the parents), which identified the size of the rearrangement (3 Mb), and its de novo occurrence. Postnatally, our newborn presented with persistent hypoglycemia and cholestatic jaundice. Endocrine tests revealed congenital hypothyroidism, cortisol and growth hormone (GH) deficiencies, which were treated with replacement therapies (levotiroxine and hydrocortisone). Brain magnetic resonance imaging, later performed, showed aplasia of the anterior pituitary gland, agenesis of the stalk and ectopic neurohypophysis, confirming the congenital hypopituitarism diagnosis. She was discharged at 2 months of age, and included in a multidisciplinary follow-up. She currently is 7 months old and shows a severe global growth failure, and developmental delay. She started GH replacement treatment, and continues oral hydrocortisone, along with ursodeoxycholic acid and levothyroxine, allowing an adequate control of glycemic and thyroid profiles as well as of cholestasis. Conclusions CES phenotypic spectrum is wide and highly variable. Our report highlights how among the possible associated endocrine disorders, congenital hypopituitarism may occur, leading to persistent hypoglycemia and cholestasis. These patients should be promptly assessed for complete hormonal evaluations, in addition to major malformations and midline anomalies. Early recognition of such defects is necessary to decrease fatal events, as well as short and long-term related adverse outcomes.

show abstract