scholarly journals Severe hypernatremic dehydration in a breastfed infant

2016 ◽  
Vol 12 (2) ◽  
pp. 179-183
Author(s):  
Faton Krasniqi
Keyword(s):  
Breastfed Infant ◽  
Hypernatremic Dehydration

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

Extremely Elevated Cerebrospinal Fluid Protein and Glucose Level in a Neonate with Hypernatremic Dehydration

2020 ◽  
Author(s):  
Arti Maria ◽  
Tapas Bandyopadhyay
Keyword(s):  
Cerebrospinal Fluid ◽  
Neurodevelopmental Outcome ◽  
Neurological Sequelae ◽  
Glucose Levels ◽  
Csf Analysis ◽  
First Case ◽  
Time Of Admission ◽  
Cerebrospinal Fluid Protein ◽  
Hypernatremic Dehydration

AbstractWe describe the case of a term newborn who presented with hypernatremic dehydration on day 19 of life. The baby was otherwise hemodynamically stable with no evidence of focal or asymmetric neurological signs. The laboratory tests at the time of admission were negative except for hypernatremia and the extremely elevated levels of cerebrospinal fluid (CSF) protein (717 mg/dL) and glucose levels (97 mg/dL). The hypernatremic dehydration was corrected as per the unit protocol over 48 hours. Repeat CSF analysis done after 5 days showed normalization of the protein and glucose levels. Serial follow-up and neuroimaging showed no evidence of neurological sequelae. Unique feature of our case is this is the first case reporting such an extreme elevation of CSF protein and glucose levels that have had no bearing on neurodevelopmental outcome at 1 month and 3 months of follow-up.

Brain Injury Patterns in Neonates With Hypernatremic Dehydration: Single Center Experience

2021 ◽  
Vol 58 (10) ◽  
pp. 947-950
Author(s):  
Anju Meena ◽  
Anurag Singh ◽  
Vishnu Kumar Goyal ◽  
Neeraj Gupta ◽  
Vikas Payal ◽  
...  
Keyword(s):  
Brain Injury ◽  
Single Center ◽  
Injury Patterns ◽  
Single Center Experience ◽  
Hypernatremic Dehydration

scholarly journals Recém-nascido com deficiência de glicerol quinase: um caso clínico

2018 ◽  
Vol 28 (3) ◽  
pp. 31385
Author(s):  
Cristina Duarte P. V. G. Madureira ◽  
Cláudia Teles-Silva ◽  
Cláudia Melo ◽  
Susana Gama de Sousa
Keyword(s):  
Emergency Department ◽  
Metabolic Acidosis ◽  
Birth Weight ◽  
Physical Examination ◽  
Laboratory Tests ◽  
Neonatal Period ◽  
Glycerol Kinase ◽  
Glutamic Pyruvic Transaminase ◽  
Glycerol Kinase Deficiency ◽  
Hypernatremic Dehydration

AIMS: To report the case of a newborn with glycerol kinase deficiency, in which an isolated mutation not yet described in the GK gene was identified.CASE DESCRIPTION: A neonate with 10 days of age was brought to the emergency department for refusal to feed with 24 hours of evolution. Physical examination showed a loss of 31% of birth weight and signs of dehydration. Laboratory tests revealed a metabolic acidosis with increased anion gap, creatinine 2.41 mg/dL, urea 306 mg/dL, hypernatremia (182 mEq/L), hyperkalemia (6.8 mEq/L), hyperchloremia (151 mEq/L), glutamic-oxalacetic transaminase 879 U/L, glutamic-pyruvic transaminase 243 U/L, triglycerides 725 mg/dL. Chromotagraphy of organic acids revealed hyperglycerolemia and glyceroluria compatible with glycerol kinase deficiency. The genetic study revealed a mutation not yet described: c.187T> C (p.S63P) as hemizygote status in the GK gene.CONCLUSIONS: The most frequent cause of hypernatremic dehydration in the neonatal period is maternal hypogalactia. In more severe cases of dehydration, other etiologies should be considered, including metabolic causes such as glycerol kinase deficiency. In this case a mutation not yet described in the GK gene was found.

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