Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

02 April 2019 : Case report  USA

Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki Syndrome

Challenging differential diagnosis, Rare disease

Pamela Ventola1ABEF*, Anamiguel Pomales-Ramos1EF, Elizabeth A. DeLucia1EF

DOI: 10.12659/AJCR.913854

Am J Case Rep 2019; 20:430-436


BACKGROUND: Kabuki syndrome (KS) is a rare disease with an estimated prevalence of approximately 1: 32 000. While the clinical presentation of KS is heterogeneous, manifestations may include: characteristic facial features, postnatal growth retardation, and skeletal abnormalities. With regards to the cognitive profile, most individuals with KS have an Intellectual Disability, but the magnitude of the impairment ranges from mild to severe, and verbal abilities are generally stronger than nonverbal abilities (i.e., visual spatial and visual perception abilities). Given the low incidence of KS, there is limited literature illustrating the longitudinal development of individuals with the condition. This report presents the cognitive and behavioral trajectory of an individual with KS.

CASE REPORT: The patient in this case report was a 27-year-old female with KS. Her cognitive profile had remained in the average range over time, but consistent with the limited KS literature, her verbal abilities were significantly higher than her nonverbal abilities. Specifically, our patient demonstrated significant deficits in visual motor and visual perceptual skills. With regards to her core language skills, her expressive skills were average, yet her receptive skills were below average. Throughout the majority of her schooling, her academic achievement skills were mildly delayed. Notably, her performance on cognitive and academic assessments remained stable over time. During young adulthood, she developed significant internalizing symptoms, particularly depressive symptoms.

CONCLUSIONS: This is the first case report to illustrate the presentation of an individual with KS from toddlerhood through young adulthood. The patient’s clinical presentation across time was relatively consistent with the KS literature to date; notable patterns of language, motor, cognitive and behavioral deficits illustrate the considerable heterogeneity that exists within the syndrome. This case report, particularly, illustrates the persistence of the cognitive profile over time and also the co-occurring psychiatric symptoms that might emerge.

Keywords: case reports, Cognition, Rare Diseases, Abnormalities, Multiple, Anxiety, Cognition Disorders, Depression, Face, Hematologic Diseases, Language Disorders, Motor Skills Disorders, Vestibular Diseases

Add Comment 0 Comments

1050 15

In Press

01 Dec 2023 : Case report  Brazil

Life-Threatening Electrical Storm Following Liver Transplantation: A Case Report

Am J Case Rep In Press; DOI:  

01 Dec 2023 : Case report  Belgium

Innovative Approach to Difficult Airway Management: Utilizing the Cook® Airway Exchange Catheter for Double...

Am J Case Rep In Press; DOI:  

01 Dec 2023 : Case report  Saudi Arabia

Successful Conservative Therapy for Infected Penile Implants: A Case Series

Am J Case Rep In Press; DOI:  

30 Nov 2023 : Case report  Puerto Rico

Scuba Diving-Induced Inner-Ear Pathology: Imaging Findings of Superior Semicircular Canal and Tegmen Tympan...

Am J Case Rep In Press; DOI:  

Most Viewed Current Articles

06 Dec 2021 : Case report  Brazil

Lipedema Can Be Treated Non-Surgically: A Report of 5 Cases

DOI :10.12659/AJCR.934406

Am J Case Rep 2021; 22:e934406

07 Dec 2021 : Case report  USA

Edwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...

DOI :10.12659/AJCR.934347

Am J Case Rep 2021; 22:e934347

19 Jul 2022 : Case report  Saudi Arabia

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

13 Jul 2022 : Case report  USA

Whistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound

DOI :10.12659/AJCR.936441

Am J Case Rep 2022; 23:e936441

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923