BackgroundHyponatremic hypertensive syndrome (HHS) is an uncommon disorder usually encountered in the adult population with unilateral renal artery stenosis and is under-recognized in the pediatric population.Case diagnosis/treatmentA 19-month-old male presented with new-onset status epilepticus associated with neurological sequelae, and hypertension to a high of 248/150 mmHg. Lab work revealed significant hyponatremia, elevated peripheral renin activity, and increase in aldosterone and ADH levels. A diagnosis of HHS was made. Initial analysis revealed a high-grade proximal renal artery stenosis by magnetic resonance imaging (MRI) and angiogram. Electroencephalogram and an MRI of the brain demonstrated characteristic abnormalities of the left temporal–parietal regions consistent with posterior reversible leukoencephalopathy syndrome (PRES). The patient responded to right renal artery balloon dilation and stent placement. Since intervention and close blood pressure control with Amlodipine, the patient has been free of seizures and is neurologically intact.ConclusionWe report a case of malignant hypertension in a 19-month-old male secondary to renal artery stenosis with associated HHS and PRES. Prognosis of PRES in children with renal disease is excellent. Prompt intervention may offer near complete resolution of physiologic and symptomatic effects of HHS and PRES due to high-grade renal artery stenosis. This report was written with parental consent for de-identified case presentation and radiographs for the educational benefit of other medical professionals.
Background: The preferred management of insulin-dependent diabetes (IDDM) for pediatric patients includes rapid-acting insulin analogs administered at mealtimes in conjunction with carbohydrate counting. Hospitalized children with IDDM are dependent on hospital personnel to administer rapid-acting insulin, which should occur within 15-30 minutes of the onset of eating. Delays in insulin administration can result in hyperglycemia, poor patient satisfaction, and inappropriate insulin regimen adjustments. At the Children’s Hospital at Montefiore (CHAM), we found that rapid-acting insulin is administered within 15 minutes of glucose check at breakfast time in only 18% of patients, and within 30 minutes of glucose check in only 40% of patients. Methods: We formed a multi-disciplinary team and used process mapping to identify barriers to timely insulin administration and implement interventions. We studied the time to rapid-acting insulin administration at breakfast for children with IDDM admitted to the 6th floor of CHAM from November 2018 to present before and after PDSA cycles, which have included nurse and resident education in carbohydrate counting, standardization of diabetes menus to include carbohydrate content, and standardization of communication method between nurses and residents. Results: As of December 2019, median time from blood sugar check to rapid-acting insulin administration at breakfast improved from 32.5 minutes at baseline to 26 minutes. The percentage of children with IDDM who receive rapid-acting insulin within 15 minutes of blood sugar check has not changed, but the percentage of children who receive rapid-acting insulin within 30 minutes of blood sugar check improved from 40% at baseline to 60%. Conclusions: Timely administration of rapid-acting insulin to hospitalized children with IDDM is a complex process involving coordination of care by multiple providers, and can be improved upon with a multidisciplinary team approach. Disclosure L. Eng: None. D. Duhame: None. L. Underland: None.
Background: Clinical practice guidelines call for consideration of genetic syndromes in evaluation of pediatric patients with extreme early onset obesity with clinical features of genetic obesity syndromes or strong family history of obesity. We describe a case of two genetic variations discovered in an obese pediatric patient. Clinical Case: 10-year-old female of African American descent who presented for evaluation of early onset extreme obesity. Patient noted to have history of hyperphagia with behavioral problems and concern for abnormal coordination. Family history was limited by fact that patient was adopted in infancy without sustained contact with biological family. On physical exam, her height was in the 98 th percentile, weight >99 th percentile, and BMI 194% of the 95 th percentile (Z+3.01). She was noted to have acanthosis nigricans without dysmorphic features. She underwent laboratory evaluation notable for HbA1c in pre-diabetes range at 5.8% (<5.7%) and dyslipidemia with triglycerides elevated at 148mg/dL (35-110mg/dL). Given her early onset of extreme obesity, she underwent genetic testing for obesity syndromes. She was found to have a heterozygous variant of unknown significance of MAGEL2 gene (c. 2572A>T). Although this particular variant has not yet been reported in the literature, a single pathogenic variant in the paternally inherited MAGEL2 gene causes disease. Pathogenic variants in the MAGEL2 gene have been associated with Schaaf-Yang or Prader-Willi-like syndrome. Schaaf-Yang syndrome has clinical overlap with Prader-Willi syndrome with a wide phenotypic spectrum and can include short stature, hypogonadism, intellectual disability, hypotonia, feeding difficulties. Our patient’s clinical phenotype is unique as she has no reported history of hypotonia or feeding difficulties, no intellectual disability, tall stature, and no dysmorphic features on exam. She was noted to have a 1.5MB microdeletion on chromosome 15q13.3 on chromosomal microarray. 15q13.3 microdeletion has been associated with a highly variable phenotype which has been reported to include obesity, intellectual disability, epilepsy, and dysmorphism. Finally, she was found to have a heterozygous variant of unknown significance of TTC8 gene. Homozygous mutations in the TTC8 gene are found in Bardet-Biedl syndrome. Conclusion: This case describes a pediatric patient with extreme obesity found to have both a chromosome 15q13.3 microdeletion and variant in MAGEL2 gene with a unique phenotype. Genetic obesity syndromes should be considered in patients who present with early onset extreme obesity, particularly in the setting of a strong family history, physical exam findings, or neurodevelopmental abnormalities. Reference: Fountain MD, Aten E, Cho MT, et al. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. ...
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