Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome

Maffre, Irène; Vincenti, Marie; Vale, Fabienne Dalla; Amouroux, C; Werner, Oscar; Meilhac, Alexandra; Barry, Gaëlle de; Amédro, Pascal

doi:10.4274/jcrpe.0193

Cited by 1 publication

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“…Congenital heart disease is described in literature in 50-75% of the patients [48,49]. Next-generation sequencing in fetuses with CHD showed pathogenic variants in MYH6 and KMT2D [48].…”

Section: Discussionmentioning

confidence: 99%

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

Candia

Fontana²,

Paglia³

et al. 2021

Eur J Pediatr

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Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10–26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG’s abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient.Conclusions: These data confirm great heterogeneity of clinical manifestations in KS and suggest to introduce further clinical diagnostic criteria in order to perform a correct and precocious diagnosis. What is Known• Kabuki syndrome is characterized by growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability• Immune dysfunction is a common finding but autoimmune diseases are rarely seen• Neurological features are common What is New• Some particular facial features could help gestalt diagnosis (hypertelorism, broad nasal bridge, micrognathia, tooth agenesis, cutaneous haemangiomas and strabismus)• Higher prevalence of autoimmune disorders than previously reported• Particular neurological features are present in this cohort (EEG and MRI brain abnormalities)

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“…Congenital heart disease is described in literature in 50-75% of the patients [48,49]. Next-generation sequencing in fetuses with CHD showed pathogenic variants in MYH6 and KMT2D [48].…”

Section: Discussionmentioning

confidence: 99%