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4. Transient neonatal polyuria and renal failure: New features of MEGDEL syndrome

Author

UCL - (SLuc) Service de neurologie pédiatrique, Paquay, Stéphanie, Harbulot, Carole, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel, Society for the Study of Inborn Errors of Metabolism, UCL - (SLuc) Service de neurologie pédiatrique, Paquay, Stéphanie, Harbulot, Carole, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel, and Society for the Study of Inborn Errors of Metabolism

Abstract

Background and objectives: MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like) syndrome is a mitochondrial disorder recently associated with recessive mutations in SERAC1. Our objective was to describe new clinical features of MEGDEL syndrome. Case report : This 6 year-old girl was the first child of consanguineous Turkish parents. She exhibited an acute neonatal deterioration with severe lactic acidosis and hepatic cytolysis. Initial evaluation revealed massive polyuria and renal failure with 3-methylglutaconic aciduria. Symptoms and biological findings progressively improved with symptomatic treatment but lactic acidosis and high lactate to pyruvate ratio along with 3-methylglutaconic aciduria persisted. At 8 months of age, a subacute neurological regression occurred with severe hypotonia, dystonia with extrapyramidal movements and failure to thrive. Brain MRI revealed necrotizing lesions in basal ganglia suggestive of a Leigh syndrome. At 2 years of age, sensorineural deafness was documented. MEGDEL syndrome was suspected and sequencing analysis of SERAC1 identified an already reported homozygous mutation. Discussion and conclusion: neonatal polyuria and renal failure have not been reported to date in SERAC1 defective patients. Such neonatal kidney findings expand the clinical spectrum of MEGDEL syndrome.

Published
2014

5. Impact of lockdown on children with type-1 diabetes: returning to the community was associated with a decrease in HbA1c.

Author

Morat B, Lucidarme N, Gibert A, Harbulot C, Lachaume N, Gréteau S, and Basmaci R

Abstract

Background: In March 2020, a 2-month lockdown of the entire population has been declared in France to limit the spread of COVID-19. Sudden changes in daily life can impact the glycemic control of patients with type 1 diabetes (T1D), especially children and adolescents. We aimed to assess the impact of the lockdown on glycemic control in children and adolescents with T1D., Methods: Children with T1D were prospectively recruited in two pediatric centers from May 11 to August 1, 2020. At inclusion, patients and/or parents were asked to fill in a form assessing the patient's lifestyle during the lockdown and a medical case report form was filled in by clinician. The mean of the three last glycated hemoglobin (HbA1c) values obtained before lockdown (HbA1c_mean; before March 17, 2020) was compared to the first HbA1c value measured after the lockdown (HbA1c_after; from May 11 to August 1, 2020). Univariable and multivariable analyses were performed, as appropriate, to identify factors associated with glycemic changes during lockdown., Results: One-hundred-and-eighteen children and adolescents (median age was 14.1 years, 50% males) with T1D (median time from diagnosis was 4.1 years) were enrolled in the study. No significant difference was observed between medians of HbA1c_mean and HbA1c_after values (8.37% [7.88; 9.32%] vs. 8.50% [7.70; 9.50%], respectively; p  = 0.391). Returning to the community was a protective factor [OR 0.31 (0.09-0.94); p  = 0.045]. Patients having increased HbA1c were more frequently in contact with a suspected case of COVID-19 [OR 9.07 (2.15-53.66); p  = 0.006], whereas patients having decreased HbA1c had the feeling of increase number of hypoglycemia [OR 0.19 (0.05-0.57); p  = 0.006]., Conclusion: In our patients, HbA1c before and after the lockdown was stable. In subgroup analysis, returning to the community was a protective factor. In addition, feeling of hypoglycemia was more frequent in the patients with decreased HbA1c., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Morat, Lucidarme, Gibert, Harbulot, Lachaume, Gréteau and Basmaci.)

Published
2023
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