[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

[Management of hydronephrosis prenatally diagnosed]

Hydronephrosis, defined as dilatation of the renal pelvis and/or calyces is most frequently detected by prenatal ultrasound. The initial postnatal ultrasound performed in the first 48 hours of life underestimated the degree of hydronephrosis in most newborns. We recommend initial postnatal sonogram at 7 days of life. Hydronephrosis is most commonly assessed by the Society for Fetal Urology [SFU] grading system or anterior-posterior diameter [APD] of the renal pelvis in the transverse plane. This classification is valid by postnatal ultrasound. Even degree of postnatal hydronephrosis was predictive factor for the need for surgery; hydronephrosis does not mean ureteropelvic junction obstruction [PUJO]. The natural history of hydronephrosis has shown that most resolve spontaneously. Investigations are not recommended if APD<10 mm. Antibiotic prophylaxis is not required if vesicoureteral reflux is excluded. Diuretic renography is useful in many cases to evaluate the degree of obstruction and determine differential renal function. With the excellent results of pyeloplasty, it is proposed for babies with congenital PUJO and <40% split differential function. A management algorithm is proposed

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]

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

[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

[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

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

[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

[ albers shomberg syndrome. About 21 cases]

The authors report a retrospective survey concerning 21 cases of the Albers Shomberg syndrome. It is a rare hereditary disease which heterogeneous inheritance but autosomal dominant transmission seems to be most frequent. The average age of patients is of eight and a half [8.5] months, with a masculine prevalence. Circonstances of discovery have been marked by pallor, by megalo-spleno-hepathy [60 %] and by bronchial pneumopathy [35 %]. Under examination, have been noted the following: o ponderal statural delay, in 65 % of cases; o pallor, in 100% of cases o enlarged liver, in 65 % of cases o enlarged spleen, in 85 % of cases. Treatment is symptomatic, based on polytransfusions. Development is unfavourable, with only four [4] survival cases

Hemorragies intraventriculaires de nouveau ne a term a propos de 4 cas

Intraventricular hemorrhage is exceptional in the full term new-born. Facts are not often elucidated. Authors tacked back 4 observations: 2 girls, 2 boys. The beginning with neurological distress is between second and thirteenth post-natal days. Interrogation don't find perinatal suffocation. Transfontanellar ultra-soud found intraventricular hemorrhage grade II in one case, grade III in 2 cases, grade IV in one case. To clear up these observations and to refer to literature, etiopathogeniques, and evolutifs aspects are discussed