Challenging differential diagnosis, Rare disease
Pamela Ventola, Anamiguel Pomales-Ramos, Elizabeth A. DeLucia
(Child Study Center, Yale University, New Haven, USA)
Am J Case Rep 2019; 20:430-436
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