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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 detailReproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes.
Valdes-Socin, Hernan; Rubio Almanza, Matilde; Tome Fernandez-Ladreda, Mariana et al

in Frontiers in endocrinology (2014), 5

The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the ... [more ▼]

The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life. Congenital hypogonadotropic hypogonadism (HH) is a clinical syndrome that is characterized by partial or complete pubertal failure. HH may result from inadequate hypothalamic GnRH axis activation, or a failure of pituitary gonadotropin secretion/effects. In man, several genes that participate in olfactory and GnRH neuronal migration are thought to interact during the embryonic life. A growing number of mutations in different genes are responsible for congenital HH. Based on the presence or absence of olfaction dysfunction, HH is divided in two syndromes: HH with olfactory alterations [Kallmann syndrome (KS)] and idiopathic hypogonadotropic hypogonadism (IHH) with normal smell (normosmic IHH). KS is a heterogeneous disorder affecting 1 in 5000 males, with a three to fivefold of males over females. KS is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROK2/PROKR2, NELF, CHD7, HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, NELF, and WDR11 genes that are related to defects in neuronal migration. These reproductive and olfactory deficits include a variable non-reproductive phenotype, including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities, and/or renal agenesis. Interestingly, defects in PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11 genes are also associated with normosmic IHH, whereas mutations in KISS1/KISSR, TAC3/TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB, and LHB are only present in patients with normosmic IHH. In this paper, we summarize the reproductive, neurodevelopmental, and genetic aspects of HH in human pathology. [less ▲]

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See detailMitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.
Debray, François-Guillaume ULg; Seneca, Sara; Gonce, Michel et al

in Mitochondrion (2014)

Cytochrome c oxidase (COX) deficiency is one of the most common respiratory chain deficiencies. A woman was presented at the age of 18y with acute loss of consciousness, non-convulsive status epilepticus ... [more ▼]

Cytochrome c oxidase (COX) deficiency is one of the most common respiratory chain deficiencies. A woman was presented at the age of 18y with acute loss of consciousness, non-convulsive status epilepticus, slow neurological deterioration, transient cortical blindness, exercise intolerance, muscle weakness, hearing loss, cataract and cognitive decline. Muscle biopsy revealed ragged-red fibers, COX negative fibers and a significant decreased activity of complex IV in a homogenate. Using next generation massive parallel sequencing of the mtDNA, a novel heteroplasmic mutation was identified in MTCO1, m.7402delC, causing frameshift and a premature termination codon. Single fiber PCR showed co-segregation of high mutant load in COX negative fibers. Mutation in mitochondrially encoded complex IV subunits should be considered in mitochondrial encephalomyopathies and COX negative fibers after the common mtDNA mutations have been excluded. [less ▲]

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See detailNeonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Jacquinet, Adeline ULg; Verloes, Alain; Callewaert, Bert et al

in European journal of medical genetics (2014), 57(5), 230-4

We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of ... [more ▼]

We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.8226+1G>A) was identified in FBN1. We show that this mutation leads to exon 64 skipping and to the production of a stable mRNA that should allow synthesis of a truncated profibrillin-1, in which the C-terminal furin cleavage site is altered. FBN1 mutations associated with a similar phenotype have only been reported in four other patients. We confirm the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features (marfanoid-progeroid-lipodystrophy syndrome) and frameshift mutations at the 3' end of FBN1. This syndrome should be considered in differential diagnosis of neonatal progeroid syndromes. [less ▲]

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See detailUse of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.
Feillet, Francois; Muntau, Ania C.; DEBRAY, François-Guillaume ULg et al

in Journal of inherited metabolic disease (2014)

Sapropterin dihydrochloride (SD) is the first drug treatment for phenylketonuria (PKU), but due to the lack of data, its use in maternal PKU must be undertaken with caution as noted in the FDA and EMEA ... [more ▼]

Sapropterin dihydrochloride (SD) is the first drug treatment for phenylketonuria (PKU), but due to the lack of data, its use in maternal PKU must be undertaken with caution as noted in the FDA and EMEA labels. We collected data from eight pregnancies in PKU women treated with SD and we analysed the phenotypes of these patients, their tetrahydrobiopterin (BH4) responsiveness, the indications for SD treatment, the efficacy (metabolic control, phenylalanine (Phe) tolerance and offspring outcome) and the safety data. Results showed that in the seven patients known to be responsive to BH4, the use of SD during pregnancy was efficient in terms of metabolic control and Phe tolerance. The indications for giving SD included the failure of the low-Phe diet (n = 3), the fact that some of these women had never experienced the low Phe diet (n = 2), one unexpected pregnancy in a woman currently on SD and one pregnancy where the foetus was known to have PKU. The offspring of these seven pregnancies were all normal babies with normal birth measurements and outcomes. No side effect related to SD was observed in these seven cases. In the eighth case, SD was prescribed as a rescue treatment without previous knowledge of the BH4 responsiveness to a woman who was already 8 weeks pregnant without diet. The birth occurred at 33 weeks of gestational age with Potter syndrome (probably related to the absence of metabolic control during the first trimester) and the baby died in the first hours of life. In conclusion, the data presented here provides the first evidence that treatment with pharmacological doses of SD appears to be efficient and safe in women with PKU during pregnancy. Its use should, however, be restricted to those women previously identified to be clear responders to BH4. [less ▲]

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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 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 detailHETEROGENOUS CLINICAL AND LABORATORY PRESENTATIONS IN MAD DEFICIENCY
BOEMER, François ULg; SCHOOS, Roland ULg; ACQUAVIVA, Cécile et al

Poster (2013, September)

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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 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 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 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 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 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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