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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 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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See detailProgramme excentrique dans le traitement de l’hyperlaxité du coude
Kaux, Jean-François ULg; Foidart-Dessalle, Marguerite ULg; Debray, François-Guillaume ULg et al

in Croisier, Jean-Louis; Codine, Philippe (Eds.) Exercice musculaire excentrique (2009)

Introduction: Joint hypermobility involves an increased range of motion compared to normal amplitudes for the same age, sex and ethnic group. Benign Joint Hypermobility Syndrome (BJHS) affects between 5 ... [more ▼]

Introduction: Joint hypermobility involves an increased range of motion compared to normal amplitudes for the same age, sex and ethnic group. Benign Joint Hypermobility Syndrome (BJHS) affects between 5 and 10% of the Caucasian population but it also concern rare hereditary dystrophies with abnormal collagen structure or metabolism (i.e.: Ehlers-Danlos Syndrome (EDS)). Patients with hypermobility suffer from joints problems and chronic pain is the most frequently reported symptom. Case Report: An EDS patient presented pain in the right elbow and the right wrist after a season of tennis. Her physiotherapy consisted of wrist prono-supination and flexion-extension muscle group reinforcement and proprioceptive training. To protect the wrist against excessive load, strengthening exercises of prono-supinator and flexor-extensor muscles of elbow and wrist were undertaken on an isokinetic device after an evaluation. She was also given an orthosis 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 symmetric values and an improvement in maximal torque of 20 to 25% in all trained 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. Thus, muscles were reinforced in eccentric mode with starting position at the maximum length of these muscles when unstreched. The exercises could be carried out safely on an isokinetic device. Indeed eccentric exercises at slow speed and limited range of joint motion avoided risk of luxation. Patients must be informed that it’s a long-term treatment and that in addition to exercises with the physiotherapist personal home exercises are essential. [less ▲]

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See detailLe cas clinique du mois. Osteogenesis imperfecta
Kaux, Jean-François ULg; Le Goff, Caroline ULg; Debray, François-Guillaume ULg et al

in Revue Médicale de Liège (2009)

We report the case of a young boy who had had multiple bone fractures (more than 10) since the age of 19 months. The father had the same clinical history. The clinical examination was normal for his age ... [more ▼]

We report the case of a young boy who had had multiple bone fractures (more than 10) since the age of 19 months. The father had the same clinical history. The clinical examination was normal for his age except blue sclera. The bone densitometry showed a severe osteoporosis for his age. Biological exam swere correct. The genetic exploration revealed mutation of COL1A2 gene. With this clinical history, the diagnosis of Osteogenesis imperfecta (OI) was retained. OI is a hereditary dystrophy with abnormal synthesis or metabolism of collagen with, often, mutation of COL1A1 or COL1A2 genes. There are 7 different forms. We consider the possible differential diagnoses. The goal of any treatment is to promote bone remineralisation and to decrease the fracture frequency. The treatment includes calcium and vitamin D, and in the presence of some precise criteria, biphosphonate therapy. [less ▲]

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See detailBCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton, Emma; Johnston, Jennifer; Whalen, Sandra et al

in European Journal of Human Genetics (2009), 17(10), 1325-35

Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental ... [more ▼]

Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked ('Lenz') microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR, supporting the hypothesis that BCOR is the sole molecular cause of this syndrome. We identify for the first time mosaic BCOR mutations in two females with OFCD syndrome and one apparently asymptomatic female. We present a female diagnosed with isolated ocular defects and identify minor features of OFCD syndrome, suggesting that OFCD syndrome may be mild and underdiagnosed. We have sequenced a cohort of males diagnosed with putative X-linked microphthalmia and found a mutation, p.P85L, in a single case, suggesting that BCOR mutations are not a major cause of X-linked microphthalmia in males. The absence of BCOR mutations in a panel of patients with non-specific laterality defects suggests that mutations in BCOR are not a major cause of isolated heart and laterality defects. Phenotypic analysis of OFCD and Lenz microphthalmia syndromes shows that in addition to the standard diagnostic criteria of congenital cataract, microphthalmia and radiculomegaly, patients should be examined for skeletal defects, particularly radioulnar synostosis, and cardiac/laterality defects. [less ▲]

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See detailDisorders of mitochondrial function
Debray, François-Guillaume ULg; Lambert, M.; Mitchell, G. A.

in Current Opinion in Pediatrics (2008), 20(4), 471-482

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See detailAcute tubular dysfunction wtih Fanconi syndrome : a new manifestation of mitochondrial cytopathies
Debray, François-Guillaume ULg; Merouani, A.; Lambert, M. et al

in American Journal of Kidney Diseases (2008), 51(4), 691-696

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See detailPyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia
Debray, François-Guillaume ULg; Lambert, M.; Gagne, R. et al

in Neuropediatrics (2008), 39(1), 20-23

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See detailReduced brain choline in homocystinuria due to remethylation defects
Debray, François-Guillaume ULg; Boulanger, Y.; Khiat, A. et al

in Neurology (2008), 71(1), 44-49

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See detailPhenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15
Debray, François-Guillaume ULg; Lambert, M.; Lemieux, M. et al

in Journal of Medical Genetics (2008), 45(11), 759-764

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See detailthe ketogenic diet in infants
Battisti, Oreste ULg; Debray, François-Guillaume ULg

Learning material (2008)

this presentation makes the point on fundamental and practical points about the use of ketogenic diet in infants

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See detailLong-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.
DEBRAY, François-Guillaume ULg; Lambert, Marie; Chevalier, Isabelle et al

in Pediatrics (2007), 119(4), 722-733

OBJECTIVES: We sought to determine the clinical spectrum, survival, and long-term functional outcome of a cohort of pediatric patients with mitochondrial diseases and to identify prognostic factors ... [more ▼]

OBJECTIVES: We sought to determine the clinical spectrum, survival, and long-term functional outcome of a cohort of pediatric patients with mitochondrial diseases and to identify prognostic factors. METHODS: Medical charts were reviewed for 73 children diagnosed between 1985 and 2005. The functional status of living patients was assessed prospectively by using the standardized Functional Independence Measure scales. RESULTS: Patients fell into 7 phenotypic categories: neonatal-onset lactic acidosis (10%), Leigh syndrome (18%), nonspecific encephalopathy (32%), mitochondrial (encephalo)myopathy (19%), intermittent neurologic (5%), visceral (11%), and Leber hereditary optic neuropathy (5%). Age at first symptoms ranged from prenatal to 16 years (median: 7 months). Neurologic symptoms were the most common (90%). Visceral involvement was observed in 29% of the patients. A biochemical or molecular diagnosis was identified for 81% of the patients as follows: deficiency of complex IV (27%), of pyruvate dehydrogenase or complex I (25% each), of multiple complexes (13%), and of pyruvate carboxylase (5%) or complexes II+III (5%). A mitochondrial DNA mutation was found in 20% of patients. At present, 46% of patients have died (median age: 13 months), 80% of whom were <3 years of age. Multivariate analysis showed that age at first symptoms was a major independent predictor of mortality: patients with first symptoms before 6 months had a highly increased risk of mortality. Cardiac or visceral involvement and neurologic crises were not independent prognostic factors. Living patients showed a wide range of independence levels that correlated positively with age at first symptoms. Among patients aged >5 years (n = 32), 62% had Functional Independence Measure quotients of >0.75. CONCLUSIONS: Mitochondrial diseases in children span a wide range of symptoms and severities. Age at first symptoms is the strongest predictor mortality. Despite a high mortality rate in the cohort, 62% of patients aged >5 years have only mild impairment or normal functional outcome. [less ▲]

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See detailDiagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
DEBRAY, François-Guillaume ULg; Mitchell, Grant A; Allard, Pierre et al

in Clinical Chemistry (2007), 53(5), 916-21

BACKGROUND: Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase deficiency (PDH-D) and other causes of congenital lactic acidosis (CLA), its ... [more ▼]

BACKGROUND: Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase deficiency (PDH-D) and other causes of congenital lactic acidosis (CLA), its diagnostic accuracy for differentiating between these 2 types of CLA has not been evaluated formally. METHODS: We conducted a retrospective study of all patients followed for mitochondrial diseases between 1985 and 2005 in a tertiary care pediatric hospital. RESULTS: At the recommended cut point of approximately 25, individual median L:P ratio demonstrated low sensitivity and specificity (77% and 91%, respectively) for differentiating between patients with enzymatically proven PDH-D (n = 11) and those with mitochondrial disease but normal pyruvate dehydrogenase (PDH) activity (non-PDH; n = 35). We observed a strong positive association between L:P ratio and blood lactate in non-PDH CLA, whereas this association was weak in PDH-D CLA. Consequently, patient classification based on median L:P ratio showed improved diagnostic accuracy at higher lactate concentrations: for lactate <2.5 mmol/L the area under the ROC curve was not statistically different from 0.5 (P = 0.3), whereas it was statistically different for lactate >2.5 mmol/L. In the 2.5 to 5.0 mmol/L lactate category, the sensitivity and specificity at an optimal cut point of 18.4 were 93% (95% CI, 77%-99%) and 71% (95% CI, 20%-96%), respectively; for lactate >5.0 mmol/L, with an optimal cut point of 25.8, sensitivity and specificity were 96% (95% CI, 77%-99%) and 100% (95% CI, 59%-100%), respectively. CONCLUSION: Usefulness of the L:P ratio for differentiating non-PDH and PDH-D types of CLA increases at higher lactate concentrations. [less ▲]

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See detailLong-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation.
DEBRAY, François-Guillaume ULg; Lambert, Marie; Lortie, Anne et al

in American Journal of Medical Genetics. Part A (2007), 143A(17), 2046-51

Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa (NARP syndrome), or maternally inherited Leigh syndrome (LS), with a correlation ... [more ▼]

Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa (NARP syndrome), or maternally inherited Leigh syndrome (LS), with a correlation between the amount of mutant mtDNA and the severity of the neurological disease. The T8993C mutation is generally considered to be clinically milder than the T8993G mutation but when the level of heteroplasmy exceeds 90%, progressive neurodegeneration has been found. We report on a long-term follow-up of a patient who presented at 4 years of age with typical LS but showed an unexpected resolution of his symptoms and a favorable outcome. At 18 years of age, his neurological examination was near normal, with neither peripheral neuropathy nor retinopathy. mtDNA analysis identified the presence of T8993C mutation at high level (>95%) in the patient's blood leukocytes. This case report and literature review emphasizes the variability of the phenotypic expression of the T8993C mutation and the need for caution in predictive counseling in such patients. (c) 2007 Wiley-Liss, Inc. [less ▲]

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See detailIntermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.
DEBRAY, François-Guillaume ULg; Lambert, Marie; Vanasse, Michel et al

in European journal of pediatrics (2006), 165(7), 462-466

Two unrelated children presenting with episodic isolated peripheral weakness were found to have pyruvate dehydrogenase (PDH) deficiency (OMIM 312170) due to previously undescribed mutations (Pro250Thr ... [more ▼]

Two unrelated children presenting with episodic isolated peripheral weakness were found to have pyruvate dehydrogenase (PDH) deficiency (OMIM 312170) due to previously undescribed mutations (Pro250Thr, Arg88Cys) in the gene for the E1alpha subunit (PDHA1). Taken in context with the literature, these patients suggest that acute weakness initially resembling Guillain-Barre syndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve function should be evaluated in PDH-deficient patients. [less ▲]

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See detailRecurrent pancreatitis in mitochondrial cytopathy.
DEBRAY, François-Guillaume ULg; Drouin, Eric; Herzog, Denise et al

in American Journal of Medical Genetics. Part A (2006), 140(21), 2330-5

Diabetes mellitus and exocrine insufficiency are the commonest pancreatic manifestations of mitochondrial diseases. In contrast, pancreatitis has rarely been described in mitochondrial syndromes. We ... [more ▼]

Diabetes mellitus and exocrine insufficiency are the commonest pancreatic manifestations of mitochondrial diseases. In contrast, pancreatitis has rarely been described in mitochondrial syndromes. We report on a patient with Kearns-Sayre syndrome and recurrent episodes of acute pancreatitis for which no explanation could be found other than the associated mitochondrial dysfunction. Interestingly, pharmacological disruption of mitochondrial metabolism in various models as well as in patients can cause pancreatitis, further supporting this association. A diagnosis of pancreatitis should be considered in any patients with mitochondrial disease and recurrent abdominal pain. [less ▲]

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