Biomedical subjects
Publications and source records attributed to B Bennaceur.
A case of transient dilatation of intra and extrahepatic bile ducts in the course of an infectious disease is described in a three-year-old girl. The ultrasonic bile duct abnormalities disappeared after three months. The mechanism involved remains uncertain; the hypothesis of a transient inflammatory obstruction is evoked.
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The authors report on a case of a newborn with asphyxiating thoracic dysplasia who died 36 h after birth. This chondrodysplasia was associated with hepatic ductular hypoplasia, agenesis of the corpus callosum and Dandy-Walker malformation. To our knowledge, such an association has not previously been reported in the literature.
The authors reviewed 125 cases of accidental ingestion of caustic substances admitted to a general pediatrics department over the last four years. L'eau de Javel (bleaching agent with sodium hypochloride) was the most frequently encountered caustic substance (89%). Esophagogastric fibroscopy was performed in 100 cases and esophageal lesions were classified according to tree grades of severity. In 46 cases, fibroscopy was normal, while severe esophagogastric lesions (grades 2 and 3) were found in 26 cases. On follow-up, six patients developed esophageal stricture, three of them after concentrated, eau de Javel ingestion. Stricture was severe in four cases, and required colonoplasty of the esophagus; it was limited in two cases and required endoscopic dilatation only. The authors emphasize the frequency and the severity of lesions caused by chloride bleach (eau de Javel) and recommend that fibroscopy be carried out in all children following ingestion of any caustic substance, even in the absence of oropharyngeal burns.
We report a familial case of Waardenburg syndrome. A four and a half year old boy had displacement of the canthi, a white forelock, perceptive deafness, and a congenital heart defect. The mother and younger brother had the same syndrome. Usually, cases of Waardenburg syndrome are divided into types I and II according to whether lateral displacement of the inner canthi is present or absent. Uni or bilateral perceptive deafness is found in 13 to 28% of type I cases and 53% of type II cases. The white forelock is a feature in 30% of cases and should suggest the diagnosis. Several other abnormalities have been reported in this syndrome. Inheritance of Waardenburg syndrome is autosomal dominant with variable penetrance. We discuss the possibility that one or both of the children we report were homozygous for a dominant gene.
We report a case of ocular toxocariasis characterized by the global involvement of both eyes. Ophthalmologic evaluation demonstrated involvement of the cornea, iris and lens, an inflammatory granuloma, and hyalitis. Immunologic tests were negative in the serum and positive in the aqueous humor. IgE levels were higher in the aqueous humor than in the serum, suggesting local antibody production. The patient also had iron deficiency anemia and atrophy of the intestinal mucosa that resolved after treatment of the iron deficiency.
In a series of 180 cases of Kala-azar, hepatic involvement was found in 16 patients. The authors report 7 cases of severe hepatitis with cytolysis, cholestasis and liver failure. These patients presented with high triglyceride, low cholesterol and low alpha-lipoprotein blood levels. The authors suggest that an activation of the mononuclear phagocyte system might explain these abnormalities.
We report a new case of Weaver syndrome in a male infant. This clinical entity is rare and was first described in 1974. Patients exhibit accelerated growth and skeletal maturation, craniofacial dysmorphism, and widening of the distal femoral metaphyses. Differential diagnosis should mainly out-rule Marshall-Smith syndrome that includes facial dysmorphism, accelerated skeletal maturation, growth deficiency, and mental retardation. Our case is unusual in that respiratory disorders, a feature often seen in Marshall-Smith syndrome but occurring rarely in Weaver syndrome, were present, as well as congestive cardiomyopathy that has apparently never been described in this syndrome, and major macrocrania.
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We report a new case of femoral hypoplasia-unusual facies syndrome (FH-UFS). A review of the literature disclosed fifty-five previously published cases. Both boys and girls can be affected. The syndrome includes bilateral femoral hypoplasia; facial dysmorphism with a cleft palate, micrognathia, a long philtrum, a thin upper lip, and a short broad-tipped nose; dysplasia of the hips; and hypoplasia of the fibulae. Other malformations may be found, including skeletal defects and visceral (especially cardiovascular and genitourinary) abnormalities. Etiopathogenesis of this syndrome remains unknown. Some investigators have suggested a link between the FH-UFS and caudal dysplasia in infants born to diabetic mothers.
We report two cases of a syndrome combining Addison disease, cardial achalasia, and alacrimation in two girls aged 4 and 5 1/2 years. Moreover, these patients exhibited some unusual features: both also had mineralocorticoid deficiency, and one had loss of tongue papillae and absence of the pupillary reflex. This syndrome is infrequent. Etiology is unknown. Pathophysiology is under debate; autonomic nervous system dysfunction seems likely. We have analyzed the features of this syndrome on the basis of our two observations and the 15 previously reported cases.
The authors report a retrospective study of 71 cases of Guillain-Barré syndrome in children. The sex ratio was 1.2/1 and the mean age 5.5 years. A history of infection preceded the polyradiculoneuritis in 50% of the cases. Sudden onset was observed in 65%. The mean duration of extensive phase was 6 days (1-20) and the mean duration of the maximum paralysis was 18 days (3-90). A quadriplegia was present in 30 cases, a severe respiratory involvement in 6 cases, a cranial nerve paralysis in 7 cases. An early raised cerebrospinal fluid protein concentration was found in 73%. The motility recuperation time was one month in 53%. A one year follow-up was obtained in 45 patients and 62% had completely recovered clinically. Four patients died, two from respiratory failure, one from autonomic neuropathy, and one from cerebral haemorrhage with associated idiopathic thrombocytopenic purpura. Thirty-two children were followed-up during 3 years and more, 10 (31%) had residual deficits. The functional prognostic factors were the age, the duration of the extension phase and of the plateau phase.
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We report two cases of Niemann-Pick disease in a sister and brother. Early jaundice was the first manifestation in both cases and was followed by cachexia and a rapidly fatal outcome. Neurologic involvement was obvious in both patients. Biologic phenotype was consistent with a diagnosis of type C sphingomyelinase, although clinical expression was different. These two cases should be classified within the infantile and early forms of Niemann-Pick disease type C. Antenatal diagnosis was performed during a third pregnancy. Enzyme activity assays on a specimen of trophoblast taken at the tenth week of gestation showed the fetus was not affected. This diagnosis was confirmed by a normal clinical evaluation at two months of life, and normal sphingomyelinase activity of cultured skin fibroblasts.
We report two cases of left ventricular thrombosis in infants with myocardiopathy. Patients were aged ten and twelve months respectively. Two-dimensional echocardiography, performed because of the development of heart failure, evidenced an echogenic image within the left ventricle and significant dilatation of the left ventricular chamber. One patient developed a peripheral arterial thrombosis that resolved under anticoagulant therapy. The intracardiac thrombus disappeared under anticoagulant therapy after one month in one patient and six months in the other. Pathophysiology of the left ventricular thrombosis is discussed; the dilatation of the left ventricle apparently played a significant role. We emphasize the value of early initiation of preventive anticoagulant therapy in patients with myocardiopathy.
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Two strikingly similar brothers issued from consanguineous parents in the second degree present the following patterns of anomalies: retardation of growth, mental deficiency, ocular abnormalities, pectus excavatum and camptodactyly. The ocular abnormalities include ptosis, microphthalmia and hypertelorism. No endocrine or metabolic aberrations were found. The authors conclude that the disorder has probably an autosomal recessive mode of transmission.