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Biomedical subjects

S Ben Becher

Publications and source records attributed to S Ben Becher.

At least 19 recordsLinked to original sources
PubMed2005

[Arabian variant of Kenny syndrome: a familial case in Tunisia].

Kenny syndrome is rare. Clinical feature include severe dwarfism, growth retardation macrocephaly, episodic hypocalcemia, internal cortical thickening and medullary stenosis of tubular bones. Genetic and phenotypic polymorphisms are characteristic. We report the observation of a Tunisian girl with the arabic variant of Kenny syndrome. She had chronic hypoparathyroidism, classic dwarfism, short stature with hormone deficiency, mental retardation and low helper/suppressor ratio. Our patient had two sisters and one brother with the same dysmorphic face and a marked intra-uterine growth retardation. They died from severe infections. Hypoparathyroidism was established in one sister.

Child, Preschool↗
PubMed2004

[Gaucher's disease in Tunisia (multicenter study)].

UNLABELLED: Gaucher's disease is one of the rare lysosomial disease that could receive substitutive enzymatic treatment which may improve considerably the prognosis of certain forms. The purpose of this work is to study the epidemiology of the disease in Tunisia, to highlight the diagnostic and therapeutic difficulties and also to precise our subsequent needs for substitutive medication. PATIENTS AND METHODS: We have conducted a retrospective survey of the hospital wards that were susceptible to take care of patients having Gaucher's disease. These wards are the paediatric, neonatology, internal medicine, haematology, neurology and cardiology wards. RESULTS: In this study we have observed 27 cases of Gaucher's disease over a period of 18 years (1983-2001). The age at onset ranges from birth to 73 years of age, with an average age of 14.5 years. According to the age at onset and the clinical presentation, we classify our patients into: 20 cases of type 1 (74%), three cases of type 2 (12%), and three cases of type 3 (12%), and one case of unspecified type.Gaucher's disease type 1: The age at onset ranged from 10 months to 73 years with an average of 19 years. The main clinical signs that we have observed were splenomegaly, hepatomegaly, pallor, haemorrhagic appearance and also osteoporosis and bone pain observed in 40% of the cases. The diagnosis was based on histology showing the Gaucher's cells in various tissues while the diagnosis obtained by the dosage of glucocerebrosidase took place only in 50% of the cases. The treatment has always been symptomatic (analgesics, transfusion). A splenectomy was performed in 47% of the cases and none of the patients received a specific treatment. The follow-up period ranged from 1 month to 18 years with an average follow-up of 4 years. Among the 12 patients having a follow-up of at least 1 year, we have noticed an improvement after splenectomy in three cases, a stability in three cases and two worsening cases dealing mainly with bone problems. One patient aged 73 died from respiratory problem and three were lost to follow-up. Gaucher's disease type 2: We have observed three cases of Gaucher's disease type 2 diagnosed at 1 day, 45 days and 3 months of age. The visceral manifestations were serious and the neurological features included seizures, hypertony, ocular-nerve palsies and psychometric decline. The three patients died. Gaucher's disease type 3: Three patients were probably suffering from Gaucher's disease type 3 with visceral manifestations observed at the ages of 9 months, 1 year and 3 years, and also neurological signs observed at respective ages of 2.5 and 3 years. Two patients died and the remaining one was lost to follow-up. CONCLUSION: Gaucher's disease is not exceptional in Tunisia. Type 1 is by far the most common one. We have noticed some insufficiency in the diagnosis as the glucocerebrosidase enzymatic dosage was performed only in 50% of the cases as well as therapeutic insufficiency with no prescription of the specific treatment.

Adolescent↗
PubMed2001

[Visceral leishmaniasis in immunocompetent children: diagnostic and epidemiologic value of peripheral leishmania blood culture].

Utilisation of new diagnosis means and particularly non invasive oues in visceral leishmaniasis can be very valuable for the biologist, the clinician as well as the patient. In this, detection of leishmania in peripheral blood, well know for VIH patients, has been applied to 37 immunocompetent tunisan children suffering from kala azar that has been shown through direct examination of bone marrow. Observed results show that culture on NNN peripheral blood medium was positive in 25 cases (67.57%). On the other side, detection of leishmania through concomitant culture of blood and marrow bone for 24 children with visceral leishmaniasis match the results in 75% of the cases. Detection of leishmania by mean of blood culture for immunocompetent children is a diagnosis mean of visceral leishmaniasis and has also an epidemiologic utility by isoenzymatic characterization of isolated leishmania strains.

Animals↗
PubMed1999

[Sydenham's chorea in children].

BACKGROUND: Sydenham's chorea was the most common form of acquired chorea in childhood. Its incidence has declined since the use of antibiotics. The aim of our study was to determine the hospital incidence of this disease and to illustrate the clinical characteristics and outcome of this disease in Tunisia. POPULATION: Retrospective study of 15 cases of Sydenham's chorea, seen between 1987 and 1997. RESULTS: Our patients (five boys and ten girls) represented 5.6 per 1000 hospitalized children. Their mean age was 10.5 years. Two patients had a history of rheumatic fever and five had a history of throat infection during the month before chorea. The onset of symptoms was acute in five cases and insidious in ten. Choreic movements were generalized but asymmetrical in 12 cases, and unilateral in three. Psychological disorders were noted in nine cases and hypotonia in six. Rheumatic carditis was found in three patients. No patient had an obvious increase in sedimentation rate, and antistreptolysin were increased in 50% of cases. All patients were given haloperidol and five steroids, 11 were given antibiotics at the attack of chorea and 13 received secondary prevention with benzathine penicillin. Initially, abnormal movements disappeared in all cases after a mean of three months. Three patients relapsed and two among them still show abnormal movements and psychological disorders after a follow-up of 3 and 3.5 years respectively. CONCLUSION: Sydenham's chorea, although less frequent than previously, is not exceptional in Tunisia. Malignant forms are not observed, but two of 15 patients developed a chronic form with sequelae. No correlation is found between outcome and secondary prevention of streptococcal infections.

Adrenal Cortex Hormones↗
PubMed1997

[Cerebral hydatic cysts in children].

BACKGROUND: Brain cysts caused by Echinococcus granulosus are rare; they occur during childhood in endemic areas. PATIENTS: Six children, aged to 8.5-years old (mean age: 5.5 years) were admitted from 1989 to 1994 because they suffered from progressive intracranial hypertension. The brain CT-scan showed typical features of supratentorial, unilocular (four cases) or multilocular (two cases) cysts. Three children had positive serological test; two had another cyst into their lung or liver and the third had generalized cysts. This last patient died post-operatively while the five others recovered after excision of cysts. CONCLUSION: Any progressive intracranial hypertension in endemic areas requires brain CT-scan that clearly identifies the cyst and its location.

Brain Diseases↗
PubMed1994

[CHARGE association].

BACKGROUND: The spectrum of CHARGE association includes coloboma, heart disease, choanal atresia, retarded growth and development and/or CNS anomalies, genital anomalies and/or hypogonadism and ear anomalies and/or deafness. CASE REPORT: A 4 1/2 month-old boy was admitted suffering from microphthalmia. His weight was 6 kg (-1 SD), height 60 cm (-2 SD) and his head circumference was 44 cm (+ 2 SD). He had hypotonia. Examination showed low-set ears, micrognathia, coloboma, left choanal atresia and genital hypoplasia. His heart was normal. CONCLUSION: The CHARGE association must be recognized early since it may be complicated by respiratory and feeding difficulties which can be lethal.

Choanal Atresia↗
PubMed1993

[Dermatitis herpetiformis and chronic diarrhea: a case].

We report on a case of dermatitis herpetiformis in an eight-year-old boy presenting diarrhoea, short stature and characteristic skin rash. Jejunal biopsy showed a partial villous atrophy. The diagnosis was confirmed by immunofluorescence which showed granular IgA deposits in the papillary dermis. On a gluten-free diet associated with dapsone, the child gained weight and height, with partial resolution of the rash.

Child↗
PubMed1992

[Schwartz-Jampel syndrome (osteochondromuscular dystrophy)].

BACKGROUND: Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple skeletal abnormalities, myotonia-like muscle disorders and unusual facies. CASE REPORTS: Case n. 1: A boy, aged 3 years 4 months, was admitted for acute respiratory disease. His main abnormalities included rigid facial expression, blepharophimosis, puckered lips, short neck, pectus carinatum, acetabular dysplasia with coxa vara, platyspondyly and marked growth retardation. There was a continuous muscle fiber activity at rest, with abnormal discharges originating in the muscle component of the neuromuscular junction. Blood investigations revealed low values of IgA. The child died at 4 years. Case n. 2: The sister of case n. 1 was examined at 14 months of age. She presented milder facies abnormalities, difficulties of gait because of stiff hips, muscular hypertrophy, coxa vara and growth retardation. X-rays showed skeletal abnormalities and the electromyogram was similar to those of her brother. She had dislocation of her optic lens. CONCLUSION: These 2 sibs have the characteristic manifestations of Schwartz-Jampel syndrome. Parental consanguinity was also present. The IgA deficiency observed in case n. 1 and the lens dislocation in case n. 2 have both been occasionally reported in this syndrome.

Child, Preschool↗
PubMed1992

[Pneumoblastoma].

Pneumoblastoma is a rare malignant pulmonary tumor. A new case is reported in a 2 years 5 month-old girl. Because the lack of locoregional extension an isolated surgical excision was performed. However, 6 months later, a local relapse occurred, with inframediastinal extension and cerebral metastases. On the occasion of this case, the authors review the problems set by the histogenesis of this tumor, its therapeutic indications, poorly codified due to its rarity and, overall, its often unfavourable outcome.

Brain Neoplasms↗
PubMed1992

[Pseudo-tumoral osteomyelitis. Immunologic study and etiopathogenic approach. Apropos of 2 cases].

Two cases of pseudo-tumoral osteomyelitis are reported. The first concerns a 12 year-old boy who presented with pain of the left knee during 8 months and, later on, with swelling of the upper extremity of the left leg, without fever or local inflammatory signs. The radiological aspect of condensation with a filling defect and "chimney" crossing the cartilage led to osteotomy. Local bacteriological samplings were normal. The second case concerns a 11 year-old boy who, after having complained from pain of the right wrist during 2 weeks, presented with swelling and on X-ray films a picture of metaphyso-epiphyseal lysis and an aspect of sequestrum in its center. There was no biological sign of inflammation. Evolution was favorable after antibiotic treatment and immobilization. In both cases, an immunological study showed an activation syndrome of the immune system with increased serum IL-1, IL-2 receptors and class II antigen receptors on the surface of T cells, suggesting a previous immunization of both children towards staphylococcus and, thereby, the subacute nature of evolution.

Child↗
PubMed1992

[Tumoral calcinosis. Apropos of a further case in a child].

Tumor-like calcinosis is an infrequent condition whose etiology is poorly understood. Calcifications develop in the subcutaneous tissue neighboring the large joints. All age groups can be affected, although the disease is more common before the age of twenty years. A new case of tumor-like calcinosis in an eight-year-old girl is reported here. A huge mass in the right hip region and a smaller mass around the right elbow were found. Biologic studies revealed increased serum phosphorus levels with normal serum calcium levels. Roentgenograms confirmed the diagnosis of tumor-like calcinosis by showing calcified masses independent from the bones of the neighboring joint. Management consisted in complete removal of both masses. Outcome was favorable. In this patient's family, the disease appears to be inherited according to a dominant pattern, although recessive autosomal transmission is believed to be more common.

Calcinosis↗