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See detailEccentric training for elbow hypermobility
Kaux, Jean-François ULg; Delvaux, François ULg; Forthomme, Bénédicte ULg et al

in British Journal of Sports Medicine (2014, April), 48(7), 154

Background: Patients with hypermobility suffer from joints problems and chronic pain is the most frequently reported symptom. Objective: Eccentric muscle strengthening could be very important to protect ... [more ▼]

Background: Patients with hypermobility suffer from joints problems and chronic pain is the most frequently reported symptom. Objective: Eccentric muscle strengthening could be very important to protect hypermobile joints. Design: Case report. Patient: A girl (16 y.o.) affected by an Ehler-Danlos syndrome presented pain in the right elbow and the right wrist after a season of tennis. Interventions: Her training consisted of wrist prono-supination and flexion-extension muscle group reinforcement and proprioceptive training. To protect the wrist against excessive load, the eccentric strengthening exercises of prono-supinator and flexor-extensor muscles of elbow and wrist were undertaken gradually, at increasing speeds within a limited range of motion in flexion and extension, on an isokinetic device after an evaluation. She was also given an orthesis restricting the joint range of motion of the wrist. Main outcome measurements: The evaluation was made by isokinetic evaluation, visual analog scale and MOS-SF36 questionnaire before and after training. Results: The patient rapidly noted a decrease in pain and an increase in the stability of her right arm even when playing tennis. Isokinetic evaluation objectified a significant improvement in maximal torque in flexion-extension muscles of the right elbow. She was also given individualized home exercises. Conclusions: The goal of this eccentric training is to avoid hypermobility by using the muscles as a protective brake in the control of joint positioning. Muscles can be reinforced in eccentric mode with starting position at the maximum length of these muscles when unstreched. The exercises can be carried out safely on an isokinetic device, at slow speed and limited range of joint motion to avoid risk of luxation. Thus, in this case report, the eccentric exercises using an isokinetic device were effective to safely reinforce the muscles as a protective brake for joint hypermobility and prevent pain during practicing tennis. [less ▲]

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See detailNovel fibroblast growth factor receptor 1 mutation causing normosmic idiopathic hypogonadotropic hypogonadism
Chachati, AS; Potorac, I; DEBRAY, François-Guillaume ULg et al

in Abstract book - Symposium "Perspectives in Endocrinology" Congresses Highlights 2013:ECE Copenhagen, ENDO SF, SFE Paris (2014, February)

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See detailSurprising causes of C5-carnitine false positive results in newborn screening.
BOEMER, François ULg; SCHOOS, Roland ULg; de HALLEUX, Virginie ULg et al

in Molecular genetics and metabolism (2014), 111(1), 52-4

During an 18-month period, we noticed an alarming increase of newborn screening false positivity rate in identifying isovaleric acidemia. In 50 of 50 newborns presenting elevated C5-carnitine, we ... [more ▼]

During an 18-month period, we noticed an alarming increase of newborn screening false positivity rate in identifying isovaleric acidemia. In 50 of 50 newborns presenting elevated C5-carnitine, we confirmed the presence of pivaloylcarnitine. Exogenous pivalate administration had been previously identified as the causal agent of this concern. No pivalic-ester prodrug is commercially available in Belgium, but pivalic derivates are also used in the cosmetic industry as emollient under the term "neopentanoate". We have identified neopentanoate-esters in a nipple-fissure unguent that was provided to young mothers. Ceasing distribution of this product hugely reduced the C5-carnitine false positivity rate. [less ▲]

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See detailNovel fibroblast growth factor receptor 1 mutation causing normosmic idiopathic hypogonadotropic hypogonadism
Chachati, Anne-Sophie ULg; Potorac, Iulia ULg; DEBRAY, François-Guillaume ULg et al

in 23rd meeting of the Belgian Endocrine Society - Abstract book (2013, October 19)

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See detailEccentric rehabilitation for elbow hypermobility
Kaux, Jean-François ULg; Forthomme, Bénédicte ULg; FOIDART, Marguerite ULg et al

in Journal of Novel Physiotherapies (2013), 3(6), 1805

Introduction: Joint hypermobility involves an increased range of motion compared to normal amplitudes for the same age, sex and ethnic group. Patients with hypermobility suffer from joints problems and ... [more ▼]

Introduction: Joint hypermobility involves an increased range of motion compared to normal amplitudes for the same age, sex and ethnic group. Patients with hypermobility suffer from joints problems and chronic pain is the most frequently reported symptom. Eccentric muscle strengthening could be very important to protect hypermobile joints. Case report: An Ehler-Danlos syndrome patient presented pain in the right elbow and the right wrist after a season of tennis. Her physiotherapy (18 sessions, 3 times a week) consisted of wrist prono-supination and flexion-extension muscle group reinforcement and proprioceptive training. To protect the wrist against excessive load, the eccentric strengthening exercises of prono-supinator and flexor-extensor muscles of elbow and wrist were undertaken gradually, at increasing speeds [30°/s, 60°/s, and 90°/s] within a limited range of motion in flexion and extension, on an isokinetic device after an evaluation. She was also given an ortheosis restricting the joint range of motion of the wrist. The patient rapidly noted a decrease in pain and an increase in the stability of her right arm even when playing tennis. Isokinetic evaluation objectified an improvement in maximal torque of 20 to 25% in flexion-extension muscles of the right elbow. She was also given individualized home exercises. Conclusion: The goal of rehabilitation is to avoid hypermobility by using the muscles as a protective brake in the control of joint positioning. Muscles can be reinforced in eccentric mode with starting position at the maximum length of these muscles when unstreched. The exercises can be carried out safely on an isokinetic device, at slow speed and limited range of joint motion to avoid risk of luxation. Thus, in this case report, the eccentric exercises using an isokinetic device were effective to safely reinforce the muscles as a protective brake for joint hypermobility. [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 detailChanging facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
El Chehadeh-Djebbar, Salima; Blair, Edward; Holder-Espinasse, Muriel et al

in European journal of human genetics : EJHG (2013), 21(7), 736-42

Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial ... [more ▼]

Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutropenia, are well described. CS diagnosis is generally raised after school age, when visual disturbances lead to CRD diagnosis and to VPS13B gene testing. This relatively late diagnosis precludes accurate genetic counselling. The aim of this study was to analyse the evolution of CS facial features in the early period of life, particularly before school age (6 years), to find clues for an earlier diagnosis. Photographs of 17 patients with molecularly confirmed CS were analysed, from birth to preschool age. By comparing their facial phenotype when growing, we show that there are no special facial characteristics before 1 year. However, between 2 and 6 years, CS children already share common facial features such as a short neck, a square face with micrognathia and full cheeks, a hypotonic facial appearance, epicanthic folds, long ears with an everted upper part of the auricle and/or a prominent lobe, a relatively short philtrum, a small and open mouth with downturned corners, a thick lower lip and abnormal eye shapes. These early transient facial features evolve to typical CS facial features with aging. These observations emphasize the importance of ophthalmological tests and neutrophil count in children in preschool age presenting with developmental delay, hypotonia and the facial features we described here, for an earlier CS diagnosis. [less ▲]

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See detailEarly infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.
Debray, François-Guillaume ULg; Baguette, Christel; Colinet, Stephanie et al

in Molecular genetics and metabolism (2013), 109(2), 227-9

Congenital generalized lipodystrophy is a rare inherited multisystemic disorder associated with disturbances of adipocyte functions. We report a young boy presenting at age 1 month with liver disease and ... [more ▼]

Congenital generalized lipodystrophy is a rare inherited multisystemic disorder associated with disturbances of adipocyte functions. We report a young boy presenting at age 1 month with liver disease and severe hypertrophic cardiomyopathy. Despite this multisystemic involvement and contrasting with a cachectic appearance, the anthropometric parameters showed marked overgrowth (+4 DS), leading to diagnosis of congenital lipodystrophy, which was confirmed by the presence of the new homozygous c.259C>T (p.Gln87*) mutation in the AGPAT2 gene. Early infantile cardiomyopathy should be considered as a specific endophenotype in Berardinelli-Seip Congenital Lipodystrophy syndrome. [less ▲]

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See detailRapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses.
Segers, Karin; Pierquin, Genevieve; Gaillez, Stephanie et al

in Prenatal Diagnosis (2013), 33(2), 201-3

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See detailNeonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease.
DEBRAY, François-Guillaume ULg; de Halleux, Virginie; Guidi, Ornella et al

in Pediatrics (2012), 129(4), 1076-9

Gestational alloimmune liver disease has emerged as the major cause of antenatal liver injury and failure. It usually manifests as neonatal liver failure with hepatic and extrahepatic iron overload, a ... [more ▼]

Gestational alloimmune liver disease has emerged as the major cause of antenatal liver injury and failure. It usually manifests as neonatal liver failure with hepatic and extrahepatic iron overload, a clinical presentation called neonatal hemochromatosis. We report on a newborn in whom fetal hepatomegaly was detected during pregnancy and who presented at birth with liver cirrhosis and mild liver dysfunction. Liver biopsy showed the absence of iron overload but strong immunostaining of hepatocytes for the C5b-9 complex, the terminal complement cascade neoantigen occurring specifically during complement activation by the immunoglobulin G-mediated classic pathway, which established the alloimmune nature of the hepatocyte injury. The infant survived with no specific therapy, and follow-up until 36 months showed progressive normalization of all liver parameters. This case report expands the recognized clinical spectrum of congenital alloimmune liver disease to include neonatal liver disease and cirrhosis, even in the absence of siderosis. Such a diagnosis is of utmost importance regarding the necessity for immunotherapy in further pregnancies to avoid recurrence of alloimmune injury. [less ▲]

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See detailHepatocyte transplantation using the domino concept in a child with Tetrabiopterin non-responsive phenylketonuria.
Stephenne, X.; DEBRAY, François-Guillaume ULg; Smets, F. et al

in Cell Transplantation (2012), 21(12), 2765-70

Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and ... [more ▼]

Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are non-responders. We performed liver cell transplantation in 6 years-old boy with severe tetrahydrobiopterin non-responsive phenylketonuria, who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 h to 19 h. However, three months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell based therapy is a promising therapeutic option in phenylketonuria and the domino concept may solve the issue of cell sources for hepatocyte transplantation. [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 detailLRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
DEBRAY, François-Guillaume ULg; Morin, C.; Janvier, Annie et al

in Journal of Medical Genetics (2011)

Background The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients ... [more ▼]

Background The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients with a genetically homogeneous, nuclear encoded congenital lactic acidosis, was studied. Results 55 of 56 patients were homozygous for the A354V mutation in LRPPRC. One was a genetic compound (A354V/C1277Xdel8). Clinical features included developmental delay, failure to thrive, characteristic facial appearance and, in 90% of patients, acute crises that have not previously been detailed, either metabolic (fulminant lactic acidosis) and/or neurological (Leigh syndrome and/or stroke-like episodes). Survival ranged from 5 days to >30 years. 46/56 patients (82%) died, at a median age of 1.6 years. Of 73 crises, 38 (52%) were fatal. The immediate causes of death were multiple organ failure and/or Leigh disease. Major predictors of mortality during crises (p<0.005) were hyperglycaemia, hepatic cytolysis, and altered consciousness at admission. Compared to a group of SURF1-deficient Leigh syndrome patients assembled from the literature, SLSJ-COX is distinct by the occurrence of metabolic crises, leading to earlier and higher mortality (p=0.001). Conclusion SLSJ-COX is clinically distinct, with acute fatal acidotic crises on a backdrop of chronic moderate developmental delay and hyperlactataemia. Leigh syndrome is common. Stroke-like episodes can occur. The Leigh syndrome of SLSJ-COX differs from that of SURF1-related COX deficiency. SLSJ-COX has a different spectrum of associated abnormalities, acidotic crises being particularly suggestive of LRPPRC related Leigh syndrome. Even among A354V homozygotes, pronounced differences in survival and severity occur, showing that other genetic and/or environmental factors can influence outcome. [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 detailLeft ventricular assist device as bridge to liver transplantation in a patient with propionic acidemia and cardiogenic shock.
Ameloot, K.; Vlasselaers, D.; Meersseman, W. et al

in Journal of Pediatrics (2011)

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See detailFree sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination.
Debray, François-Guillaume ULg; Lefebvre, Caroline ULg; Colinet, Stephanie et al

in Journal of Pediatrics (2011), 158(1), 1651651

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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 detailLow citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.
Debray, François-Guillaume ULg; Lambert, Marie-Hélène ULg; Allard, Pierre et al

in Journal of Child Neurology (2010), 25(8), 1000-2

Two siblings presented with encephalopathy, lactic acidosis, and hypocitrullinemia. Muscle and liver biopsies were considered for respiratory chain studies, but because of hypocitrullinemia, molecular ... [more ▼]

Two siblings presented with encephalopathy, lactic acidosis, and hypocitrullinemia. Muscle and liver biopsies were considered for respiratory chain studies, but because of hypocitrullinemia, molecular analysis for maternally inherited Leigh syndrome was first performed, revealing in both siblings the mitochondrial DNA T8993G mutation (95% heteroplasmy), allowing to avoid tissue biopsies. Hypocitrullinemia, an occasional finding in mitochondrial diseases, has been specifically associated with T8993G mutation. However, only few patients have been reported, and the prevalence of hypocitrullinemia in 8993 mitochondrial DNA mutations is unknown. In a small series of 16 Leigh syndrome patients, sensitivity and specificity of hypocitrullinemia (< or = 12 micromol/L) for 8993 mitochondrial DNA mutations were 66% and 85%, respectively. Although studies in larger cohorts are necessary, we suggest considering T8993G mutation early in the diagnostic evaluation of infantile mitochondrial diseases with hypocitrullinemia, which minimizes the need for invasive procedures associated with a small but nonnegligible risk of complications and incorrect diagnosis. [less ▲]

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See detailComment j'EXPLORE ... un hypogonadisme hypogonadotrope congenital isole
Valdes-Socin, H.; Debray, François-Guillaume ULg; Parent, Anne-Simone ULg et al

in Revue Médicale de Liège (2010), 65(11), 634-41

Congenital Isolated hypogonadotropic hypogonadism (CIHH) is caused by an inherited mechanism of impairment of the pituitary-gonadal axis, interfering with gonads' control. Currently, different forms of ... [more ▼]

Congenital Isolated hypogonadotropic hypogonadism (CIHH) is caused by an inherited mechanism of impairment of the pituitary-gonadal axis, interfering with gonads' control. Currently, different forms of HHCI with (Kallmann syndrome or KS) or without anosmia-hyposmia are known. There are six forms of KS already described but in several cases no genetic mutation is found. The genetic anomalies already described are: KAL1 (locus Xp23) coding for anosmine-1, KAL-2 or FGFRI (8p11. locus 2 - p11.1) coding for Fibroblast Growth Factor Receptor 1 (FGFR1), KAL4 or PROk2 (locus 3p21.1) and KAL3 or ProKR2 (locus 20p13) coding respectively for the Prokinecitin-2 and its receptor, KAL5 or CHD7 (locus_8q12.1) coding for a chromodomain helicase DNA-binding protein-7 gene (CHD7) and lastly KAL6 or FGF8 (10Q 24 loci) coding for Fibroblast Growth Factor 8. The other genetic anomalies without anosmia are less frequent. These are associated either with Gnrhl gene (8p2-11. 2), GnRHR (4q21.2), GPR54 (19p13),TAC3R or neurokinine receptor 3 (4 q 25), LH (19q13.32) or FSH (11p13). The isolated congenital hypogonadotrophic hypogonadism phenotype is variable depending on gender, the importance of the deficit, and ultimately, according to a specific regulatory mechanism of the axis, affected by an inherited genetic anomaly. In this review, we describe the essential aspects of the different phenotypes and genotypes of HHCI, in order to assess clinicians an early disease's diagnosis and management. [less ▲]

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See detailTemple-Baraitser syndrome: a rare and possibly unrecognized condition.
Jacquinet, Adeline ULg; Gerard, Marion; Gabbett, Michael T et al

in American Journal of Medical Genetics. Part A (2010), 152A(9), 2322-6

Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients ... [more ▼]

Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients with Temple-Baraitser syndrome, review clinical and radiological features of previously reported cases and discuss mode of inheritance. Patients share a consistent pattern of anomalies: hypo or aplasia of the thumb and great toe nails and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. All patients were born to unrelated parents and occurred as a single occurrence in multiple sibships, suggesting sporadic inheritance from a de novo mutation mechanism. Comparative genomic hybridization in Patients 1, 2 and 3 did not reveal any copy number variations. We confirm that Temple-Baraitser syndrome represents a distinct syndrome, probably unrecognized, possibly caused by a de novo mutation in a not yet identified gene. [less ▲]

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