References of "HARVENGT, Julie"
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See detailClinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
HARVENGT, Julie ULg; wanty, catherine; De Paepe, Boel et al

in Molecular Genetics and Metabolism Reports (2014)

A one year old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the ... [more ▼]

A one year old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutation in the GBA gene. She was treated by enzyme replacement therapy (ERT). Clinical follow-up showed mild developmental delay, strabism, nystagmus and oculomotor apraxia. Biochemical studies revealed multiple respiratory chain deficiencies and a mosaic pattern of deficient complex IV immunostaining in liver and fibroblast. Molecular analysis identified a mtDNA depletion syndrome due to the homozygous p.Pro98Leu mutation in MPV17. A younger sister unaffected by mtDNA depletion, presented with pancytopenia and hepatosplenomegaly. ERT for Gaucher disease resulted in visceral normalization, without any neurological symptom. A third sister, affected by both conditions, had marked developmental delay, strabism and ophthalmoplegia but no liver cirrhosis. In conclusion, intrafamilal variability occurs in MPV17 related disease. The combined pathological effect of Gaucher and mitochondrial diseases can negatively impact neurological and liver functions, and influence the outcome in consanguineous families. Immunocytochemical staining of OXPHOS protein in tissues and cultured cells is a powerful tool revealing mosaic pattern of deficiency pointing to mtDNA related mitochondrial disorders. [less ▲]

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See detailMultiple pitfalls in the diagnosis of a complex liver disease
HARVENGT, Julie ULg; Wanty, Catherine; Lissens, Willy et al

Conference (2013, June 14)

A one year old girl, born to consanguineous parents, presented with unexplained liver disease. Liver biopsies revealed respiratory chain complex I and IV deficiencies. Progressive liver failure at 19 ... [more ▼]

A one year old girl, born to consanguineous parents, presented with unexplained liver disease. Liver biopsies revealed respiratory chain complex I and IV deficiencies. Progressive liver failure at 19 months led to liver transplantation. One year later, anemia and thrombocytopenia occurred due to hypersplenism. Histopathological analyses of partial splenectomy showed the presence of Gaucher cells, and Gaucher disease was confirmed by enzyme and genetic analyses. Respiratory chain deficiency was considered as a possible artifact due to liver failure and cirrhosis. She was treated by ERT. Clinical follow-up showed developmental delay, strabism, nystagmus and external ophthalmoplegia. A mitochondrial disorder was considered again, and molecular analysis revealed a mtDNA depletion syndrome due to homozygous MPV17 mutation. In the meantime, a young sister presented with acute abdominal pain, pancytopenia and major hepatosplenomegaly. ERT for Gaucher disease allowed visceral normalization, without any developmental delay or neurological symptom. She was unaffected by the mtDNA depletion syndrome. Unfortunately, a third sister systematically screened, was affected by both conditions. Despite ERT, she presents chronic moderate liver dysfunction and mild hepatomegaly. Aged 3 years, she has marked developmental delay and ophthalmoplegia. Metabolic investigations showed normal blood lactate, in basal condition as well as following an oral glucose load [less ▲]

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See detailNeonatal cirrhosis without iron overload: congenital alloimmune hepatitis
HARVENGT, Julie ULg; de HALLEUX, Virginie ULg; GUIDI, Ornella et al

Conference (2011, March 19)

Background. Fetal liver disease is a rare antenatal disorder for which etiology is frequently unknown. Recently, congenital alloimmune hepatitis emerged as a major cause of antenatal liver disease. Its ... [more ▼]

Background. Fetal liver disease is a rare antenatal disorder for which etiology is frequently unknown. Recently, congenital alloimmune hepatitis emerged as a major cause of antenatal liver disease. Its typical presentation can be as a severe neonatal liver failure with hepatic and extrahepatic iron overload, a clinical state called neonatal hemochromatosis. Methods. A pregnant woman was investigated for heterogeneous fetal hepatomegaly. Pregnancy was also complicated by fetal alloimmune thrombocytopenia. The newborn presented at birth with liver cirrhosis and mild liver dysfunction. Follow-up until 36 months showed progressive normalization of all liver parameters. All metabolic and infectious analyses were negative. Liver biopsy showed severe hepatitis with post-necrotic fibrosis and regenerative nodules. There was no iron overload. To search for immune injury, paraffine sections of the liver biopsy were stained with an antibody against the membrane attack complex (MAC, anti human c5b-9, Peter Whitington’s Lab, Children’s Memorial Hospital, Chicago, IL), the terminal complement cascade neoantigen occurring specifically in complement activation by the IgG-mediated classical pathway, and which is responsible for cell death. Results. Strong immunostaining against MAC-antigen was found in the liver of the patient, with 90% of target hepatocytes whereas in a control group of patients with other neonatal liver diseases, it was 10.8±12.5%. Because IgG in neonates originate only from the mother, it signs the alloimmune nature of the disease. Conclusion. For a long time, pathophysiology of neonatal hemochromatosis remained unsolved. Recently, it was elucidated as congenital alloimmune hepatitis. With this case, we expend the recognized clinical spectrum by showing that congenital alloimmune hepatitis can present as milder cases, without iron overload. It should be considered as a cause of unexplained neonatal liver disease, even in the absence of siderosis. Such diagnosis is of great importance regarding the necessity of immunotherapy in further pregnancies in order to avoid recurrence of alloimmune injury [less ▲]

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See detailDe l'utilité d'une consultation conjointe de gynécologie- endocrinologie pédiatrique : étude rétrospective des motifs de consultation et approche pratique
HARVENGT, Julie ULg; Retz, M.-C.; Foidart, Jean-Michel ULg et al

in Revue Médicale de Liège (2011), 66(11), 581-8

The gynaecological issues encountered in children and teenagers lay at the intersection of paediatric endocrinology and gynaecology. More than ten years ago, an outpatient clinic in paediatric ... [more ▼]

The gynaecological issues encountered in children and teenagers lay at the intersection of paediatric endocrinology and gynaecology. More than ten years ago, an outpatient clinic in paediatric endocrinology and gynaecology has been created. Here, we review the last 6 years. 214 girls were included, considering only the first visit for each patient. Collected data are initial concern for this consultation, age at first consultation and confirmed or suspected diagnosis. A classification is done according to the initial concern of patients in six categories. Principal queries concern pubertal development, precocious pilosity or abnormalities in menstrual cycles. Vulvovaginitis and morphologic abnormalities are also frequently encountered. This consultation suggests a paediatric approach with a child feeling confident and a gynaecological examination with a specialist knowing the anatomy particularities and the development of the children. This article focuses on the importance of specific gynaecological examination in children and reviews the main diseases encountered. [less ▲]

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See detailComment j'explore les hypoglycémies chez l'enfant : à propos de deux cas
HARVENGT, Julie ULg; DEBRAY, François-Guillaume ULg; LEBRETHON, Marie-Christine ULg et al

in Revue Médicale de Liège (2011), 66(12), 631-635

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See detailHYPERINSULINISM-HYPERAMMONEMIA: AN UNUSUAL CAUSE OF HYPOKETOTIC HYPOGLYCEMIA
HARVENGT, Julie ULg; LEBRETHON, Marie-Christine ULg; leroy, patricia et al

Poster (2010, March)

BACKGROUND Etiological diagnosis of hypoglycaemia in infancy is a complex process, requiring careful integration of detailed history, clinical and laboratory data. The causes of recurrent infant ... [more ▼]

BACKGROUND Etiological diagnosis of hypoglycaemia in infancy is a complex process, requiring careful integration of detailed history, clinical and laboratory data. The causes of recurrent infant hypoglycaemia include excessive insulin secretion, surreptitious insulin administration, deficiency of counter-regulatory hormones and inborn errors of metabolism. CLINICAL CASE A 10 month old girl was admitted at our emergency unit for generalized seizures without fever. Routine laboratory investigations were normal but blood glucose level was at 31 mg/dl. No ketone bodies were found in the urine. Past medical history revealed failure to thrive. A first seizure episode at 8 months of age during family’s holiday is reported. Tests performed in a foreign hospital revealed glycaemia at 36mg/dl. During her stay in our paediatric unit, several hypoglycaemias (31-45 mg/dl) were documented related to irritability as initial symptom of neuroglucopaenia. Detailed medical history revealed that fast tolerance was shorten with hypoglycaemia documented between one to three hours after eating. Clinical examination showed absence of hepatomegaly and failure to thrive: weight, -3SD; height, -2SD, and cranial circumference -2SD. At the time of hypoglycaemia, urinary tests revealed absence of ketonuria, that basically evokes hyperinsulinism or fatty acid oxidation deficiencies but these deficiencies were rapidly excluded by the very short fast state. Blood acylcarnitine profile was normal. Hyperinsulinism is defined by a ratio glycaemia/insulin below 4 with insulin values not necessary high. Since hyperinsulinism can not be excluded with only one blood measure, series of taking were performed during 24 hours. One of these tests was clearly positive with ratio equal to 2.3 (glycaemia at 41 mg/dl, insulin at 18µU/ml). For this patient, ammonemia was also tested with values ranged from 242 to 275 µg/dl (normal < 125) and the diagnosis of hyperinsulinism/hyperammoniemia (hi/ha) was made and confirmed by molecular analysis (mutation c.965G>A (p.R269H) in the GLUD1 gene). The treatment consists in this case by diazoxide and reduction of leucine intakes (< 200 mg of leucine/meal). DISCUSSION Differential diagnosis of hypoglycaemia with absence of ketonuria and absence of hepatomegaly include fatty acids β-oxidation defects, ketogenesis defects and hyperinsulinisms. Short fasting and post-prandial induced hypoglycaemia pointed to hyperinsulinism in our patient. Congenital hyperinsulinism includes KATP, glucokinase or glutamate deshydrogenase mutations. Hi/ha syndrome is due to activating mutations in the GLUD1 gene, coding for the glutamate dehydrogenase (GDH). Such mutations reduce the sensitivity of the enzyme to allosteric inhibition by GTP and consequently increase its sensitivity to allosteric activation by L-leucine. Hyperactivity of the GDH is responsible for over-oxidation of glutamate in β-pancreatic cells, increase of the ATP/ADP ratio and insulin release. Hyperactivity of GDH in liver is also responsible for hyperammonemia, which is usually mild and considered harmless for the brain. Nevertheless, recent studies have shown an increased epilepsy risk in cohorts of patients with hi/ha. CONCLUSION This case points out the importance of necessity for first investigations of infant documented case of hypoglycaemia. Patient history must focus on symptoms such as shorten fast tolerance periods and neurological symptoms of glucose deprivation. Blood samples should be taken at the time of hypoglycaemia and urine samples as soon as possible after the episode of hypoglycaemia. Initial normal insulin values do not allow the exclusion of the diagnosis of hyperinsulinism. [less ▲]

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See detailGlucose-galactose transporter DEFICIENCY: a diagnosis based on clinical observations.
HARVENGT, Julie ULg; poskin, julie; etienne, isabelle et al

Poster (2009, March)

Dehydration and major diarrhea in young infants is mainly linked to infectious diseases. However in case leading to denutrition and growth retardation, metabolic causes or malabsorption should be evocated ... [more ▼]

Dehydration and major diarrhea in young infants is mainly linked to infectious diseases. However in case leading to denutrition and growth retardation, metabolic causes or malabsorption should be evocated. We report here the case of a few days old infant admitted for early recurrence of liquid stools and vomiting. XX is born at term (3450 grams, 51 cm) after an uneventful pregnancy. Consanguinity has been reported in the family. He was breastfed but presented rapidly liquid stools and vomiting. At 10 days old he was first admitted for dehydration, loss of weight below his birth weight (2900 grams) and severe hypernatremia. Semi elementary diet led to some improvement but he was readmitted at the age of one month for similar even worse symptoms including abdominal distension and explosive stools. Complementary investigations have excluded infection, parasitosis, malformation and immune deficits. Different diet formulas were tried with no significant benefit what led to the placement of parenteral nutrition thanks to which weight was gained. Hypothesis of peculiar carbohydrate malabsorption was made and the following tests have been carried out: -Clinitest: presence of reducing substances in the stools. -Lactose Breath test: between 15 and 90 ppm H2 with a peak value at 90 ppm H2 after 90 minutes. -Duodenal biopsy: normal histology; normal activity of lactase, maltase, saccharase-isomaltase. Considering the normality of these enzyme activities, hypothesis of “Na-dependant glucose-galactose transporter” deficit was put forward. This was confirmed according to the results of HGPO and glucose breath test. Search for SGTL1 gene mutation is still in progress. In conclusion despite of the huge progresses made at molecular biology level, clinical observation remain essential to the diagnosis of malabsorption. Precise reporting of the used milk formula and comparative analysis of their composition can orient the diagnosis and help to select the most accurate molecular test. Here, analyses exclude every enzyme activity deficiencies. Carbohydrate malabsorption from first days of live can be linked to a glucose-galactose transporter deficiency due to a SGLT1 mutation (chr 22). This autosomal recessive disorder has only been reported 200 times until now. [less ▲]

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