Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.

Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (ß subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c.41T > C in the exon 1 at homozygous state. In-silico analysis revealed that this mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence. Moreover, these analysis predicted that this mutation alter stability structure and mitochondrial translocation of the protein. In Addition, a decrease in mtDNA copy number was revealed by real time PCR in the peripheral blood leukocytes in the two patients compared with controls.

Meningococcemia complicated by myocarditis in a 16-year-old young man: a case report.

Fulminant meningococcemia is a relatively rare life-threatening disease caused by Neisseria meningitidis. The clinical presentation is varied, but, when associated with myocarditis, it carries a particularly poor prognosis. We report a case of a patient with fulminant meningococcemia who subsequently developed severe myocardial dysfunction and successfully recovered within a period of 7 days of hospitalization. A 15-year-old girl presented with headache, fever, body ache for 1 day and few ecchymotic rash over her body for 3 hours. Blood cultures confirmed infection with N. meningitidis. After 2 days in the hospital, the patient developed dyspnea, elevated jugular venous pressure and shock. The patient was managed with intravenous ceftriaxone, furosemide and norepinephrine. Over the next 4 days the patient rapidly improved. Meningococcemia complicated by myocarditis has an extremely poor prognosis with high mortality. Our case suggests that recovery from a severe myocardial dysfunction can occur rapidly within a few days. Prompt recognition and management in this case might have contributed to the patient's rapid recovery from myocarditis.

[Pneumomediastinum during a dermatomyositis: a rare entity]. / Pneumomédiastin au cours d'une dermatomyosite, une entité rare: à propos d'un cas.

Dermatomyositis is a connective characterized by inflammation of skeletal muscle with cutaneous manifestations. Their etiologies, still unknown, associate environmental and genetic factors. Among lung complications described, interstitial pneumopathies are common complications. Other complications are rarely reported as pneumomediastinum. We report a case of pneumomediastinum with aeric in massive skin dissection occurred in a patient with dermatomyositis. We will discuss the frequency, causes and pathophysiology of the disease according to the literature.

Caseous calcification of the mitral annulus on MDCT: a rare intracardiac mass.

Caseous calcification of the mitral annulus is a rare form of chronic degenerative process in the mitral valve fibrous ring with a mass-like appearance that has to be in the differential of the radiologist and cardiologist. We present the case of an 82-year-old woman in whom a tumor-like calcified mass in the posterior side of the mitral valve annulus was detected at echocardiography, and the diagnosis of caseous calcification was confirmed on multidetector computed tomography (MDCT). The diagnostic features of this rare cardiac mass are described.

Tardus-parvus Doppler waveform in the renal arteries of an adult patient suggesting aortic coarctation.

A 19-year-old man presented with arterial hypertension without blood pressure difference between his upper and lower extremities. Duplex Doppler sonography was performed to rule out renal artery stenosis and revealed a tardus-parvus pattern in both renal arteries as well as in the abdominal aorta, whereas the left subclavian artery showed a normal waveform, suggesting a more distal obstruction. Aortography confirmed a severe aortic coarctation. Because the typical signs and symptoms of aortic coarctation may not be present, especially in adults, a tardus-parvus pattern in the abdominal aorta and its branches, contrasting with a normal pattern in the supra-aortic arteries, should suggest the diagnosis.