Deficiency in complex IV of mitochondria respiratory chain

Mitochondrial cytopathies are diseases due to a defect of mitochondrial respiratory chain and are characterized by the presence of morphological abnormalities of mitochondria. These diseases may be due to alterations of the mitochondrial or the nuclear genome. The clinical manifestations can be polymorphic as various organs may be involved. We report the case of a 2-year-old boy who has a declined development correlated with a distal renal tubular acidosis. His behavioural and motor development was normal until l2months when a regression of his motor milestones with a pyramidal syndrome was noted. The metabolic investigation and the cranial MRI revealed a Leigh syndrome. The biochemical and immunological studies on biopsied skeletal muscle and cultured skin fibroblasts showed a deficiency in the complex IV respiratory chain [cytochrome c oxidase or COX]

[Pediatric emergency in Mahdia hospital]

To study the profile of the emergency users, the attitude of the doctors providing medical care and the degree of satisfaction of those users. Prospective study concerning the pediatric emergency users into a 3rd level hospital, during 3 different periods between 26/05/2002 and 25/09/2003. The medium age of the consultants was 3 years, the sex ratio was 1, 03. 58,3 per cent belonged to modest socio-economic level, 65,7 per cent of then hadn't a treating doctor for following, and 68,3 per cent of the childs were brought by the proper initiative of their parents. The expectation delay before the consultation was less then 15 minutes in 57,3 per cent of the cases. After consultation, this delay was less than one hour in 50,7 per cent of the cases and between 1 and 3 hours in 44,3 per cent of the cases. 14,7 per cent of the children were hospitalised. The emergency case was considered simple or just a felt-emergency in 50,7 percent of the cases, and it was a simple consultation in 28,1 per cent of the cases. 46 per cent of the parents were "satisfied" of services. The major part of consultations at the emergency services is not justified. We have to educate the parents about how important is to have a family doctor, to supervise emergency structures to improve the quality of the offered services

[Idiopathic pulmonary hemosiderosis rescue treatment with chloroquine: a case report]

Idiopathic pulmonary haemosiderosis is a rare but potentially lethal disorder. Long-term treatment with corticosteroids may improve the prognosis of this disease. Other immunosuppressive agents have been used in a small number of cases with encouraging results. We report a case of a twelve year old girl presenting a severe form of Idiopathic pulmonary haemosiderosis treated long-term high-dose steroids. That leeds to significant side effects. Chloroquine used after inefficiency of Azathioprine induced a subsequent remission

[Chediak- Higashi Syndrome. report of one case]

Chediak - Higashi syndrome is a rare hereditary disease. Most patients develop an accelerated phase of the disease. Once accelerated phases occurred, the disease is invariably fatal before the use of etoposide. We report the case of a 5 year-old girl with consanguineous parents, presenting a partial oculocutaneaous hypopigmentation admitted because of protracted fever, lethargy, paler and hepatosplenomegaly. Laboratory results confirmed the diagnosis of hemophagocytic syndrome. The finding of a large cytoplasm granules in born marrow leucocytes confirmed the diagnosis of Chediak Higashi syndrome. Treatment with immunoglobulin, steroids and cyclosporine induced a transitory remission and a relapse occured after 3 weeks. The use of etoposide associated with precedent treatment leads to a prolonged remission and bone marrow transplantation was succefuly performed after 5 months. This case reports the severity of accelerated phase of Chediak- Higashi syndrome and the efficiency of the treatment with etoposide

[Forein bodies in the tracheo-bronchial tree. about 94 cases]

This is a study about 94 tracheo-bronchial foreign bodies observations. The most frequent involved age is between 1 and 2 years [64.5 per cent]. The penetration syndrome found in 74, 4 percent of case. Physical examination is often abnormal [79.7 per cent]. The chest radiography shows emphysema [39.9 per cent] or atelectasis [18.08 per cent]. No mortality case was reported

[Acute post-streptococcal glomerulonephritis and pneumonia. About 6 cases]

Acute post-streptococcal glomerulonephritis [GNA] typically occurs 7-14 days after streptococcal infection, however some children can develop GNA concomitantly with bacterial pneumonia. ONA and pneumonia is a rare association, its often underestimated, its etiopathogenie remains still not clear. The purpose of this study is to analyse the etiopathogeny, clinical course and the outcome of this association. It is about 6 children hospitalized for GNA and pneumonia among 417 cases of GNA admitted between 1982 and 2003. All patients had at the time of admission abnormal urianalysis associated with respiratory manifestations. The evolution was favorable at 5 patients while the last one presented an empyema, nephrotic syndrome and died by pulmonary emboly. In conclusion the presence of a renal symptomatology at a child with pneumonia should be evaluated for concomitant GNA. This glomerulonephrite has generally a good prognosis, but sometimes specific therapeutic interventions are necessary to avoid the risk of renal failure