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Biomedical subjects

M Trabelsi

Publications and source records attributed to M Trabelsi.

At least 19 recordsLinked to original sources
PubMed1991

[Congenital sensory neuropathy with anhidrosis: type IV. Apropos of 2 new cases].

Two new cases of congenital sensory neuropathy (CSN) type IV in brothers aged 10 and 5 years are reported. Features included diffuse lack of response to pain without loss of response to touch, temperature and proprioceptive stimuli. No other neurologic anomalies were found. Both patients had complete anhidrosis. Joint destruction, which was the result of the failure to react to painful stimuli, was the most prominent feature. Nerve biopsy specimens exhibited marked reductions in numbers of amyelinic fibers with normal numbers of myelinic fibers. These two cases of CSN type IV are discussed in the light of previously reported cases and the new classification of congenital sensory neuropathies is reviewed.

Arthritis↗
PubMed1991

[Hemiballism. Description of a clinical case in childhood].

Biballism is an infrequent hyperkinetic disorder characterized by involuntary, intermittent, violent, uncontrollable contractions of the proximal muscles of the limbs. Biballism is classically ascribed to a lesion in the controlateral subthalamic nucleus or its connections but other causes have been reported. These include infections (bacterial, viral parasitic), cerebrovascular lesions, tumors, toxics, and systemic disease (systemic lupus erythematosus). Although poorly understood, the pathophysiology of hemiballism is widely believed to involve hyperactivity of the dopaminergic system. The prognosis of these abnormal movements, formerly poor, has been improved by the use of neuroleptics and drugs acting on the different neurotransmitter systems. A unique case of biballism at resolution of a febrile coma in a 4 1/2 year old is reported. The EEG showed diffuse slow waves. A hyperdense lesion was visible in the right thalamic region on the cerebral CT scan. The magnitude of the abnormal movements decreased under haloperidol. The etiology of this case of biballism is discussed.

Child, Preschool↗
PubMed1990

[Transient dilatation of intra- and extra-hepatic bile ducts. A case].

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.

Child, Preschool↗
PubMed1990

[Asphyxiating thoracic dysplasia associated with hepatic ductal hypoplasia, agenesis of the corpus callosum and Dandy-Walker syndrome].

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.

Agenesis of Corpus Callosum↗
PubMed1990

[Accidental ingestion of caustics in Tunisian children. Report of 125 cases].

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.

Burns, Chemical↗
PubMed1990

[Duplication of mouth and mandible. Apropos of a case].

We report a case of duplication of the mouth, tongue, mandible, and cervical spine in a female neonate. Findings in this patient were somewhat different from those in previously reported cases. Clinical, radiological and therapeutic features in this localized duplication are reviewed. Embryologic hypotheses include defective midline development, such as in the split notochord syndrome, and development of totipotent cells from the first branchial arch.

Abnormalities, Multiple↗
PubMed1990

[Weaver's syndrome. Apropos of a new case].

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.

Age Determination by Skeleton↗
PubMed1989

[Femoral hypoplasia--unusual facies syndrome].

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.

Abnormalities, Multiple↗
PubMed1989

[An association of Addison's disease, achalasia of the cardia and alacrimation. Apropos of 2 cases].

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.

Addison Disease↗
PubMed1989

[Acute polyradiculoneuritis in children: apropos of 71 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.

Acute Disease↗
PubMed1989

[Early infantile form of Niemann-Pick disease type C. Apropos of 2 siblings].

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.

Age Factors↗
PubMed1989

[Thrombosis of the right ventricle in 2 infants with myocardiopathy].

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.

Cardiomyopathies↗