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Biomedical subjects

J B Mariette

Publications and source records attributed to J B Mariette.

15 recordsLinked to original sources
PubMed1998

[MELAS syndrome in a five year-old child: clinical, biological and genetic characteristics].

BACKGROUND: MELAS syndrome is a rare mitochondrial cytopathy; its diagnosis can be difficult. CASE REPORT: A 6-month-old boy presented with febrile seizures, possibly due to viral meningitis. At 7 months, he developed myoclonia and "brain attacks" and, subsequently, myoclonical attacks, regression of psychomotor and mental acquisitions, and progressive visual loss. The ratio of lactatorachia/lactacidemia was increased. The molecular genetic analysis showed an heteroplasmic point mutation with A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(leu) (UUR) gene. He was the second child of a mother having frequent headaches. His great aunt, a sister of his maternal grandmother, was mentally retarded and had frequent epileptic seizures and hemiparesy since her childhood. CONCLUSION: Any unusual neurological symptom, particularly when combined with "illegitimate" symptoms, should lead to search for a mitochondrial cytopathy.

Child, Preschool↗
PubMed1994

[Neonatal herpes simplex hepatitis with favorable outcome after treatment with acyclovir].

BACKGROUND: Herpes simplex virus (HSV) may cause severe disease in the neonate with high mortality and devastating sequellae. This infection presents exceptionally as isolated fulminant hepatitis. CASE REPORT: An 8 day-old baby was admitted because of seizures, fever and vomiting. Initial investigations including CSF analysis were negative and the patient was given ampicillin plus netilmicin. Two skin vesicles were seen 5 days later containing HSV. A second CSF analysis was negative as was the brain scan. At that time, liver involvement was evident: ASAT 3700 IU/l; ALAT 1035 IU/l; prothrombin 37%; fibrinogen 1 g/l. Hemogram showed WBC: 2,500/mm3 and PNN: 702/mm3. The patient was given acyclovir 40 mg/kg/day IV. Blood and CSF culture remained negative; CSF interferon concentration was 4 IU/ml. Serologic investigations in both parents were inconclusive. The disease worsened rapidly with consumption coagulopathy requiring ventilation support. The dose of acyclovir was increased to 60 mg/kg/day, 9 days after admission. Improvement was noted on the 10th day and acyclovir was administered orally on the 21st day. The condition was completely normal 6 months later. CONCLUSION: Early administration of acyclovir may favor complete recovery of neonatal HSV hepatitis.

Acyclovir↗
PubMed1993

[The Ko phenotype and fetal-maternal allo-immunization].

BACKGROUND: Very few people have no Kell antigens (phenotype Ko). They can develop antibodies to Kell antigens after transfusion, or the abortion of a Kell-positive fetus. This paper describes a case of immunization that may have been due to amniocentesis. CASE REPORT: The eighth pregnancy of a woman required an amniocentesis on the 17th week for chromosomal study because she was 41 years old. She had 4 prior abortions. Her blood group was A Rh+. Her red cells were not tested for rare blood groups and antibodies to blood groups were not screened before and after amniocentesis. The newborn baby developed hemolytic anemia. On her 10th hour of life, her hemoglobin was 10.7 g% and her bilirubinemia 308 mumol/l. Her blood group was A Rh+. Indirect Coomb's test was positive in the mother, and the baby was given 3 exchange transfusions of O+, Ccee, K- blood. Further studies showed that the mother had phenotype Ko (A+, Ccce, K-, k-, Kpa-, Kpb-, Jsa-, Jsb-). The baby's phenotype was K-, k+, Kpa-, Kpb-, Jsa-, Jsb+. The mother was found to have a high titer of Ku antibodies. CONCLUSION: This mother belongs to one of the 3 families known in the Reunion Island to have phenotype Ko. She had never been given transfusions, and prior abortions are unlikely to have played a role since no hemolysis was seen in further newborns. While amniocentesis is probably a major factor, its role cannot be determined because no pre-amniocentesis samples were analysed immunologically.

Amniocentesis↗
PubMed1993

[Tracheal neurinoma simulating status asthmaticus in a child].

BACKGROUND: Neurilemmoma is a benign tumor that is rarely located in the trachea. A neurilemmoma in the intrathoracic part of the trachea can mimic severe status asthmaticus. CASE REPORT: A 14 year-old girl was admitted because of persistent signs of status asthmaticus, despite bronchodilator therapy. She had no history of asthma. A worsening of the wheezing while she was in the intensive care unit led to intubation and respiratory support. X-rays showed pneumomediastinum. A dramatic improvement only followed replacement of the intratracheal tube. On the 5th day of the disease, tracheoscopy showed a sessile tumor obstructing two-thirds of the lumen, 3 cm above carena. Biopsy showed the tumor to be a neurilemmoma; it was excised. Scar tissue developed and was responsible for stenosis; it required laser therapy and an endotracheal prosthesis. Neither the girl nor her parents showed signs of neurofibromatosis. CONCLUSIONS: An intrathoracic tracheal tumor can produce asthmatoid wheezing. A definitive diagnosis can be made only by tracheoscopy.

Adolescent↗