scholarly journals Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism

2020 ◽  
Vol 11 (4) ◽  
pp. 223-227
Author(s):  
Kevin Perge ◽  
Mona Massoud ◽  
Hélène Gauthier-Moulinier ◽  
Olivier Lascols ◽  
Nicolas Pangaud ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Intrauterine Growth Restriction ◽  
Growth Restriction ◽  
Recombinant Human Insulin ◽  
Exon 2 ◽  
Intrauterine Growth ◽  
Ultrasound Findings ◽  
Obstructive Hypertrophic Cardiomyopathy ◽  
Donohue Syndrome ◽  
Fasting Hypoglycemia

Donohue syndrome (leprechaunism; OMIM *246200) is a rare and often lethal autosomal recessive disease caused by mutations in the <i>INSR</i> gene. We report the case of a 29-year-old pregnant woman, primigravida, who was referred at 33 weeks of gestation for severe intrauterine growth restriction (IUGR). Ultrasound examination found severe IUGR associated with an obstructive hypertrophic cardiomyopathy (HCM), confirmed postnatally. The newborn’s blood glucose level fluctuated from fasting hypoglycemia to postprandial hyperglycemia. The infant was found to be homozygous for a novel missense pathogenic variant, c.632C&#x3e;T (p.T211l), in exon 2 of the <i>INSR</i> gene, predicted to result in an abnormal insulin receptor. To our knowledge, this is the first report of leprechaunism being revealed by IUGR and HCM during the prenatal period. Clinicians should keep in mind that the association of these prenatal signs could indicate leprechaunism and specific early neonatal management could be proposed, in particular with recombinant human insulin-like growth factor-I.

Profound Intrauterine Growth Restriction (IUGR) Due to Donohue Syndrome: the Story of One Family

Ultrasound ◽  
2009 ◽  
Vol 17 (2) ◽  
pp. 99-102
Author(s):  
Samawal Alsammoua ◽  
Roisin McPherson ◽  
James Robins
Keyword(s):  
Intrauterine Growth Restriction ◽  
Autosomal Recessive ◽  
Prenatal Testing ◽  
Obstetric Care ◽  
Autosomal Recessive Disorder ◽  
Growth Restriction ◽  
Healthy Baby ◽  
Intrauterine Growth ◽  
Donohue Syndrome ◽  
Biochemical Features

We describe the obstetric care delivered to a woman over the course of three pregnancies during which time she and her partner were diagnosed as carriers of a rare autosomal recessive disorder: Donohue syndrome. She went on to deliver two affected children and one child who was unaffected. The first baby was growth restricted in utero and had many classical clinical and biochemical features of the syndrome. This infant died at the age of five months. The mother declined prenatal testing in her subsequent pregnancies. Fortunately, she was to deliver a healthy baby in her second pregnancy. However, her third pregnancy was again complicated by severe intrauterine growth restriction. She was delivered of the second affected baby who again demonstrated many of the features and abnormalities associated with Donohue syndrome. This baby died at thirteen months of age. The process leading to the diagnosis, the ultrasound growth charts related to affected and unaffected fetuses and the implications for subsequent management are described.

Pathological features of the sequence in pregnant women with delayed fetal growth

2019 ◽  
pp. 50-54
Author(s):  
V.O. Golyanovskiy ◽  
◽  
Ye.O. Didyk ◽  
Keyword(s):  
Pregnant Women ◽  
Intrauterine Growth Restriction ◽  
Normal Development ◽  
Intrauterine Infection ◽  
Normal Pregnancy ◽  
Growth Restriction ◽  
Control Group ◽  
Intrauterine Growth ◽  
Increased Risk ◽  
Infection And Inflammation

Pregnant women with intrauterine growth restriction (IUGR) have an increased risk of adverse perinatal and long-term complications compared with the birth of children with normal body weight. Thus, IUGR is one of the main challenges for the global health system, especially in poor and developing countries. Morpho-functional studies of the placentas help in determining the causes of IUGR, and therefore, timely prevent complications in pregnant women with IUGR. The objective: The purpose of this study is to investigate various morphometric and pathomorphological changes in the placenta, including inflammatory, in cases of IUGR, and to establish a correlation of these results with the etiology and complications for the fetus. Materials and methods. In the current study, 54 placentas of the fetuses with IUGR (the main group) were compared with 50 placentas of the fetuses with normal development (control group). The criteria for the inclusion of IUGR were gestational age more than 30 weeks and all fetuses with a weight less than 10th percentile for this period of pregnancy. The placenta material was studied pathomorphologically with laboratory screening for infection and inflammation. Similarly, the results were determined for placentas of the fetuses with normal development compared to placentas with IUGR. Results. The placenta study showed the presence of calcification in the case of IUGR, as well as in the case of prolonged pregnancy. However, calcification of the placenta in the case of IUGR was more progressive compared with placenta in the normal pregnancy. In addition, the presence of intrauterine infection and inflammation was observed, which could also lead to an adverse outcome for the further progression of pregnancy with IUGR. Conclusion. A comparative macro- and microscopic pathomorphological study of the placentas in the two groups has shown a significant increase in the pathological changes in all the anatomical structures of the fetuses with IUGR. Key words: Intrauterine growth restriction (IUGR), fetal weight, pathomorphological changes of the placenta.

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