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; Amedro, Pascal

doi:10.4274/jcrpe.galenos.2018.2018.0193

Cited by 6 publications

(5 citation statements)

References 5 publications

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“…Avatapalle et al [4] described a 3-year-old boy with Down syndrome (but no underlying cardiac anomalies) in whom there was a clear temporal relationship between cessation of the diazoxide and resolution of the pericardial effusion, followed by recurrence of the effusion when diazoxide was reintroduced. The same clear temporal relationship between diazoxide therapy and pericardial effusion formation was described by Maffre et al [5] in a 15-month-old girl with Kabuki syndrome. We report 3 additional patients who showed significant variability in their clinical picture, including the severity and age at onset of the pericardial effusion, and the duration and dose of diazoxide treatment (Table 1).…”

Section: Discussionsupporting

confidence: 78%

“…Pericardial effusion is not a recognized side effect of diazoxide, with only 2 previous case reports in 2012 and 2019 [4, 5]. Avatapalle et al [4] described a 3-year-old boy with Down syndrome (but no underlying cardiac anomalies) in whom there was a clear temporal relationship between cessation of the diazoxide and resolution of the pericardial effusion, followed by recurrence of the effusion when diazoxide was reintroduced.…”

Section: Discussionmentioning

confidence: 99%

“…Whilst the latter group’s side effect profile is dominated by cardiovascular symptoms and signs secondary to peripheral vasodilation and sodium and water retention [2], chronic use of the drug is more likely to result in hypertrichosis 52%, fluid retention/electrolyte imbalances/oedema 30%, vomiting/poor appetite 12%, heart failure 3.7%, and bone marrow suppression 3% [3]. Pericardial effusion is not a recognized side effect of diazoxide, apart from 2 case reports of single patients [4, 5]. We describe 3 further patients with congenital hyperinsulinism who developed a pericardial effusion on diazoxide treatment, supporting the likelihood of a true association.…”

Section: Introductionmentioning

confidence: 99%

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Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism

et al. 2020

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• Diazoxide is widely used as first-line treatment for some forms of congenital hyperinsulinism. • Fluid overload is a well-recognised side effect of diazoxide. Novel Insights • Diazoxide therapy may be associated with the development of pericardial effusion, independent of fluid status. • All children on diazoxide therapy should undergo routine screening with echocardiogram to exclude pericardial effusion.

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism

et al. 2020

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“…On the contrary, diazoxide use was associated with acute kidney injury with elevated serum creatinine in a neonate, without affecting urine output in a case report [46]. Pericardial effusions have been reported in association with diazoxide exposure in a small number of patients [47,48], including a 7-week-old who required diuretics and an 8-month-old who required emergency subxiphoid drainage. Diazoxide was discontinued in both patients and the effusions did not recur [47].…”

Section: Other Adverse Effects Of Diazoxide Use In Neonatesmentioning

confidence: 96%

Diazoxide for Neonatal Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension

2022

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Hypoglycemia in neonates is associated with long-term neurodevelopmental effects. Hyperinsulinemic hypoglycemia (HH) is the most common cause of persistent hypoglycemia in neonatal intensive care units. Diazoxide is the only medication that is currently recommended for treatment of HH in neonates. However, the use of diazoxide in neonates is associated with pulmonary hypertension as an adverse effect. In this article, we review the literature on the mechanism of action and adverse effects with the use of diazoxide in neonatal hyperinsulinism. We then present a case series of neonates treated with diazoxide in our neonatal intensive care unit over a 5-year period. Among 23 neonates who received diazoxide, 4 developed pulmonary hypertension and 1 died. All infants who developed pulmonary hypertension were born preterm at less than 36 weeks gestation and had pre-existing risk factors for pulmonary hypertension. HH in preterm neonates, with pre-existing pulmonary hypertension or with risk factors for pulmonary hypertension requires thoughtful management.

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

Cited by 6 publications

References 5 publications

Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism

Pericardial Effusion Associated with Diazoxide Treatment for Congenital Hyperinsulinism

Diazoxide for Neonatal Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension

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

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