[A complex case of diabetes due to LMNA mutation]. / Un diabète particulièrement compliqué.

INTRODUCTION: Laminopathies (diseases related to A/C mutations of lamines) are rare genetic diseases with an extensive phenotypic spectrum, including lipodystrophic syndromes-characterized by a selective loss of adipose tissue-of which the partial Dunnigan family type is the most frequent. CASE REPORT: We report on a 55-year-old woman with diabetes and long-term disabling myalgia. Her cushingoid morphotype, associated with cutaneous lipo-atrophy and muscle hypertrophy in addition to a genetic heritage, led us to the diagnosis of complex partial familial lipodystrophy heterozygous LMNA_c.82C>T, p.Arg28Trp mutation. CONCLUSION: Familial partial lipodystrophic syndromes may have varied phenotypes, mainly cardio-metabolic, which could mimic a particularly severe type 2 diabetes. The diagnostic work-up of this disease has to include a careful investigation of gait troubles and paroxysmal conduction that could lead to sudden death, as well as a genetic examination. In some cases, recombinant leptin can be proposed.

[Kikuchi-Fujimoto's disease or histiocytic necrotizing lymphadenitis: A report of two familial cases]. / Maladie de Kikuchi-Fujimoto ou lymphadénite histiocytaire nécrosante : à propos de deux cas familiaux.

INTRODUCTION: The histiocytic necrotizing lymphadenitis or Kikuchi-Fujimoto's disease is characterized by a lymph node inflammation whose similarity with systemic lupus is generally admitted. CASE REPORT: Our description of two familial cases aims at raising the hypothesis of the existence of a genetic background in this disease following the example of what is observed in the autoimmune diseases. CONCLUSION: Pathophysiology of Kikuchi-Fujimoto's disease is probably multifactorial and may include predisposing genetic background and a possible infectious triggering event.

[Epileptic seizures and hematemesis in a young patient with sickle cell disease]. / Épilepsie puis hématémèse chez une jeune patiente drépanocytaire.

INTRODUCTION: Sickle cell disease is a multi-faceted disease, which can affect all organs. Here, we report the case of a young woman whose clinical presentation was confusing. CASE REPORT: An 18-year-old patient from Martinique in Caribbean area presented to the emergency room with widespread pain, as part of a vaso-occlusive crisis. She reported being followed for SS sickle cell anemia, with a history of vaso-occlusive crises and exchange transfusions in the past. Her hemoglobin rate was 83g/L. She was treated with opioid analgesics. Then, she presented several generalized tonic-clonic seizures and major episodes of hematemesis, which proved to be simulated by the patient, whose hemoglobin electrophoresis result was finally AS. CONCLUSION: This patient had therefore the Münchausen syndrome, mimicking sickle cell anemia, like eight other cases reported in the literature.

Characteristics and costs of carbapenemase-producing enterobacteria carriers (2012/2013).

OBJECTIVES: We had for aim to determine the characteristics of carbapenemase-producing enterobacteria (CPE) carriers and to assess the economic impact of isolation measures leading to loss of activity (closed beds, prolonged hospital stays) and additional personnel hours. PATIENTS AND METHODS: We conducted a retrospective study for 2years (2012/2013), in a French general hospital, focusing on CPE carriers with clinical case description. The costs were estimated by comparing the activity of concerned units (excluding the ICU) during periods with CPE carriers or contacts, during the same periods of the year (n-1), plus additional hours and rectal swabs. RESULTS: Sixteen EPC carriers were identified: 10 men and 6 women, 65±10years of age. Seven patients acquired EPC in hospital during 2 outbreaks in 2012. Four patients presented with an infection (peritonitis, catheter infection, and 2 cases of obstructive pyelonephritis) with a favorable outcome. The median length of stay was 21days [4,150]. Six patients died, 1 death was indirectly due to CPE because of inappropriate empiric antibiotic therapy. A decrease in activity was observed compared to the previous year with an estimated 547,303€ loss. The 1779 additional hours cost 63,870€, and 716 screening samples cost 30,931€. The total additional cost was estimated at 642,104€ for the institution. CONCLUSIONS: Specialized teams for CPE carriers and isolation of contact patients, required to avoid/control epidemics, have an important additional cost. An appreciation of their support is needed, as well as participation of rehabilitation units.

Impact of a multidisciplinary staff meeting on the quality of antibiotherapy prescription for bone and joint infections in orthopedic surgery.

INTRODUCTION: We studied the impact of a weekly multidisciplinary staff meeting (MSM) on the quality of antibiotherapy for bone and joint infections in orthopedic surgery, as part of professional practice assessment. MATERIALS AND METHODS: We retrospectively studied the file of patients hospitalized for bone and joint infection. We compared antibiotherapy compliance to good use (bacteriology, dose, length of treatment, length of adaptation to microbiology), and outcome at six months for patients with bone and joint infections, before (March 2007 to March 2009) and after (March 2009 to March 2011) implementation of the multidisciplinary staff meeting. We identified 28 patient files (32 infections) before MSM and 26 patient files (28 infections) after MSM. RESULTS: Antibiotherapy was adapted in 47% of cases before MSM, versus 96% after (P<0.0001). The dose was optimum in 72% of infections before MSM, versus 89% after (P=0.11) and the length of antibiotherapy complied with recommendations in 41% of infections before MSM, versus 86% after (P=0.0005). The average time of antibiotic adaptation to the antibiogram changed from 2 days before MSM to 1.7 days after (P=0.43). Forty seven per cent of patients were cured at six months before MSM, versus 57% after (P=0.45); the rate of treatment failure at six months decreased from 25% before MSM to 18% after (P=0.75). CONCLUSION: The effectiveness of antibiotherapy significantly improved concerning the spectrum and treatment duration (P ≤ 0.0005) after implementing MSMs in orthopedic surgery. But the clinical impact at six months was not significant due to the small population sample.

Osteomalacia revealing celiac disease and primary biliary cirrhosis-related Fanconi syndrome in a patient with systemic sclerosis.

Systemic sclerosis (SSc) may affect the gastrointestinal tract and cause very rarely malabsorption syndrome related to bacterial overgrowth. Malabsorption syndrome may be responsible for weight loss, diarrhea, osteomalacia, and iron and vitamins deficiency. We report the case of a SSc patient who developed osteomalacia caused by the combination of two exceptional conditions in the setting of SSc: celiac disease (CD) and primary biliary cirrhosis (PBC)-related Fanconi syndrome. Oral prednisone with angiotensin-converting enzyme inhibitors, was initiated because of active lesions of tubulitis, and led to the complete regression of bone pains, and by the improvement of renal function and regression of the features of proximal tubulopathy. Thus, in the presence of vitamin deficiencies in a patient with SSc, together with a search for malabsorption syndrome secondary to bacterial overgrowth, CD and/or PBC-associated Fanconi syndrome should be investigated.

Factors of severity at admission during an epidemic of dengue 1 in New Caledonia (South Pacific) in 2003.

We report a retrospective study of an epidemic of dengue in New-Caledonia (South Pacific) in 2003 among adult inpatients. The aim was to establish clinical and biological criteria for the severity of the infection at the time of admission. During 7 months, all inpatients older than 15 y having a laboratory-confirmed diagnosis of dengue fever (IgM or PCR) were included (n=170). Two groups were defined: severe cases (death and/or transfer to intensive care unit, n=24) and benign cases (n=146). Data were analysed using Epi-Info software. Univariate analysis showed that shock, haemorrhage and neurological complications were significantly more frequent in serious cases, respectively 37.5% vs 0.7%, 62.5% vs 32.2%, 25% vs 9.6% (p<0.05). Relevant biological criteria were: creatinine > 140 micromol/l (OR 12 (95% CI 3.93-37.44)), free bilirubin > 18 micromol/l (OR 12.69 ( 95% CI 2.88-59.5)), amylase > 220 UI/l (OR 27.34 (95% CI 4.57-210)) and platelets < 45,000/mm3 (OR 4.35 (95% CI 1.43-14.2)) with p<0.005 (VPP = 100% for association of 3 criteria). We suggest this combination of 4 biological criteria inclines to severity.

[A mild blackwater fever]. / Une fièvre bilieuse hémoglobinurique de gravite moyenne.

We report a highly probable case of moderately severe blackwater fever. A French woman, living in Guinea Bissau, was used to taking self-medication halofantrine for malaria. On this occasion, she felt unusual chills and pyrexia after a non documented bout of malaria, followed by nausea, then jaundice with dark-red urines despite another treatment with halofantrine. A sepsis was eliminated by two negatives thick peripheral blood drop examinations. Hemolysis was noted with 8.1 g/dl of hemoglobin, Coombs positive, and LDH at 1,452 IU/l, associated to renal failure with 34 ml per minute of clearance. The outcome was favourable with rehydration. Blackwater fever has been described with the three aminoalcohols, but mainly in severe presentations. Clinicians are not familiar with this disease, even though it has major therapeutic implications: quinine, halofantrine, and mefloquine become strictly contra-indicated. Moderate forms may be unknown, and this observation should be taken into account to prevent mistreatment in future patients.

[Shoulder arthritis due to Haemophilus aphrophilus]. / Arthrite d'épaule à Haemophilus aphrophilus.

We report a case of shoulder arthritis due to Haemophilus aphrophilus. The patient, a 56 year-old woman, was immunocompetent. She presented with a septic arthritis of the left shoulder without portal of entry. A synovial fluid sample was cultured and positive for a gram-negative bacillus after 8 days. It was identified as Haemophilus aphrophilus, in the HACCEK group, by PCR ARN 16S. We did not find any associated endocarditis. The patient recovered. As far as we know, this is only the 5th reported case of arthritis due to this microorganism.

Failure of valacyclovir for herpes zoster in a moderately immunocompromised HIV-infected patient.

Whereas valacyclovir is widely used and is recommended by some authors in moderately immunocompromised HIV-infected patients, its use has not been validated by clinical studies. We report a case of herpes zoster in an HIV-infected patient for whom neurologic complication was not avoided despite valacyclovir therapy. Clinical outcome was favorable after intravenous acyclovir. This case suggests careful monitoring of valacyclovir in HIV-infected patients is necessary.