[Alcardi's syndrome in a monozygotic twin girl]

Aicardi's syndrome is a rare genetic disorder characterized by heterogeneity of clinical findings and prognosis. The characteristic features include infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This syndrome is seem almost exclusively in female and it's often sporadic. The authors report a case of a premature female twins with typical Aicardi syndrome and her sister sibling was unaffected. At 4 months of age, the patient developed flexion in spasms and constipation. At that time she had microcephaly, abdominal ballonnement and generalized hypotonia. The electro- encephalography showed a characteristic hypsarrhythmia. The cranial ultrasonography and computed tomographic scan cerebral demonstrated agenesis of the corpus callous. Chest radiograph revealed multiple dorsal hemi vertebrae and scoliosis. The ophthalmologic examination showed chorioretinal lacunae. The karyotype was 46, XX. The patient also had peripheric hypothyroidism. The outcome under Vigabatrin and L-Thyroxin was characterized by a psychomotor retardation, a severe epilepsy, gastroesophageal reflux and recurrent pneumonia which caused the death at 2 years of age

[Recessive osteopetrosis: new mutation]

Autosomal Recessive osteopetrosis [ARO] is a severe bone disease, whose cellular defect is consisting in impaired osteoclast bone resorption, resulting in generalized osteosclerosis and obliteration of marrow. The molecular defect is heterogeneous. 50 per cent of ARO patients show an abnormality in the TCIR1 gene coding for the a3 subunit of vacuolar proton pump that plays a fundamemtal role in acidifying the osteoclast-bone interface. We report a new case with mutation in the TCIRG1 gene. The patient, a 4 months old male infant, presented with exophthalmia, macrocephaly, hepatosplenomegaly, a very severe bone sclerosis,anemia, thrombocytopenia, optic atrophy, with fatal outcome at second year. He has the mutation G11049T in homozygous state in the TCIRG1 gene, this mutation is in heterozygous state in the parents. Prenatal diagnosis was carried out in the mother by amniocentesis performed at 16 weeks of second gestation. The fetal DMA analysis showed that same mutation were present in heterozygous state. A healthy baby with no clinical, radiological or abnormalities was delivered

[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

Right diaphragmatic paralysis in newborn

Isolated diaphragmatic paralysis is a rare affection in newborn. It is often associated to a brachial paralysis due to obstetrical factors. The authors report two cases of right diaphragmatic paralysis revealed by a respiratory distress developed immediately at birth in two male newborns, a premature of 34 weeks of gestation and a full-term infant, born after breech delivery and perinatal suffering. The chest radiography and the radioscopy confirmed the diagnosis of right diaphragmatic paralysis. It was isolated in the premature and associated to a facial paralysis and bilateral brachial paralysis in the full-term newborn. The evolution of the respiratory distress was favourable after a non invasive ventilation of some days in the both cases. Besides, the full-term infant kept a severe neurological distress and dies at 36 days of age by a nosocomial infection. At 16 months of age, the premature did not present respiratory abnormalities but keeps another ascent of the dome right hemidiaphragm. The prevention of this affection is very important by eutocic progress of the delivery

[Meckel Gruber syndrome a case report]

Meckel Gruber syndrome is a rare lethal autosomal recessive disorder characterized by a clinical and genetical heterogenicity. Currently, the diagnosis is based on some major criteria: occipital meningo-encephalocele, bilateral polycystic displastic kidneys and postaxial polydactily. Prenatal diagnosis by a transvaginal ultrasound is possible at the 11th week of gestation justifying therapeutic abortion. The prevalence little valued in our country and the variability of the genes according to ethnics as well as their expression phenotypic in the same ethnic opens perspectives in the fundamental research as for the positioning of genes and the survey of their expression

[Hereditary osteo-onychodysplasia. a case report]

Hereditary osteo-onycho-renal dysplasia is a rare genetic disorder also known as nail patella syndrome. It is an autosomal dominant hereditary disease with complete penetration but variable expressivity. The basic manifestations include: iliaque horns, finger nail abnormalities, patella hypoplasia or aplasia and elbow deformities. Nephropathy accompanied by mild proteinuria is also thought to be a commun manifestation. We report the case of 7 years old boy and his family who show clinical features of NPS

Atypical Aicardi's syndrome on two sisters not twins

Aicardi's syndrome is a rare genetic disorder characterized by heterogeneity of clinical findings and prognosis. The characteristic features include infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This syndrome is seen almost exclusively in female and is often sporadic. However, some familial cases were reported in the literature. The prognosis is unpredictable. It is grave in most of cases with severe psychomotor retardation. The authors report two sisters not twins, from a consanguineous familily with atypical Aicardi syndrome diagnosed at 2 months of age. Clinical feautures were infantile spasms, partial agenesis of the corpus callosum and atypical ophthalmologic abnormalities. Evolution was marked by severe psychomotor retardation, scoliosis and severe recurrent pneumonia entailing the death of one of the patients at 3 years of age

Le syndrome de prune belly: a propos d'un nouveau cas

Prune Belly syndrome associate the congenital triad of abdominal muscle deficiency, urinary tract anomalies and cryptorchidism. Other associated anomalies may be noted, such as orthopedic, gastro intestinal or cardio- vascular disorders. We report one new case of Prune Belly syndrome discovered in the neonatal period. The prognosis is dependant on the condition of the urinary tract at birth

Un nouvel activateur du plasminogene isole a partir de la salive de Rhapactor biparticeps [Heteroptera, Reduviidae]: proprietes biologiques et physicochimiques

A new plasminogen activator has been isolated from the saliva of Rhapactor biparticeps. This product is 5% of salivary proteins and acts at an optimal pH of 7.8.P.D.F which results from its action on human fibrinogen are similar to those which are obtained with streptokinase. The modalities of action of this plasminogen activator on the fibrinogen are discussed

La prolixase, enzyme fibrinolytique isolee a partir de Rhodnius prolixus [heteroptera, Reduviidae]: proprietes antigeniques

Antigenic properties of prolixase are studied showing that this fibrinolytic enzyme induces in the rabbit, the formation of precipitating but slightly, hemagglunating homologous antibodies

Mise en evidence d'activateurs du plasminogene dans la salive d'un insecte predateur de la famille des reduviidae [heteroptera]

The study of digestive and salivary proteases of Rhapactor biparticeps, has shown hat the salivary glands of this insect are rich in proteolytic enzymes. however, the gut has none The characterisation of these enzymes on different substrates showed that they are only active on fibrinogen and pIasmatic proteins which are involved in the coagulation system. Among these fibrinolytic enzymes that has been identified and characterized, are the plasminogen activators. Their unexpected presence in he entomophagic insect is discussed

Incidence parasitaire d'opius concolor [Spzl] [Hymenoptera, braconidae] sur un hote de remplacement ceratitis capitata wied [diptera, trypetidae]

The parasitic incidence of Opius concolor [Hymenoptera, Braconidae] on a replacement host, Ceratitis capitata [Diptera,Trypetidae] was studied using polyacrylamid gel electrophoresis and immunoelectrophoresis methods. A noticeable modification of C. capitata proteins was observed when parasited by 0. concolor. But the most important phenomenon is the finding of common antigens obetween the host and the parasite. These results are discussed with regard to trophic and parasitic behaviour of the parasite

Identification d'activateurs du plasminogene dans la salive de rhapactor birarticeps [reduviidae]

Plasminogen activators are identified in the saliva of Rhapactor biparticeps using a particular technique which includes human fibrin in polyacrylamid gel.This technique is described and results are discussed according to classical methods used for fibrinolysis studies

Description of new fibrinolytic enzyme, isolated from the haemolymph of rhodnius prolixus stal [heteroptera reduviidae]

A new fibrinolytic enzyme, isolated from the haemolymph of Rhodnius prolixus Stal [Heteroptera, Reduviidae] has been disocovered. This enzyme does not act by activating plasminogen to plasmin. However the split products obtained with this new enzyme inhibit fibrin formation in normal plasma. This enzyme seems to act specifically on the proteins involved in blood coagulation. Its origin has induced us to name it prolixase