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Biomedical subjects

J F Chateil

Publications and source records attributed to J F Chateil.

At least 73 records · Page 4Linked to original sources

Proteus syndrome in 7 patients: clinical and genetic considerations.

The Proteus syndrome is a congenital hamartomatous disorder delineated in 1983. Because of its polymorphic appearance, the syndrome was named after the greek god Proteus whose name means much less than the polymorphous much greater than. Major clinical findings include hemi hypertrophy, macrodactyly, exostoses, scoliosis, epidermal nevi, haemangiomas, deeply rugated soles of the feet and a variety of deep and subcutaneous masses. We report on 7 new cases of Proteus syndrome. All reported cases have been sporadic. Therefore this syndrome could be due to the action of a dominant lethal gene surviving by mosaicism.

Adult↗

[Fetus in fetu and acardiac monster: can the similar patterns of these 2 malformations be explained by a common morphogenic mechanism?].

Fetus in fetu and acardiac monster are two unusual malformations (estimated incidences: 1 in 500,000 and 1 in 34,600 deliveries respectively) which present very similar morphological patterns. The authors report two cases of acardiac monster and a case of fetus in fetu which emphasize this fact. These findings suggest that a single morphogenic mechanism leads to the defects observed in these two groups of malformations.

Abnormalities, Severe Teratoid↗

Medulloblastoma in the nevoid basal-cell carcinoma syndrome: case reports and review of the literature.

The nevoid basal-cell carcinoma syndrome (NBCCS) is a rare autosomal-dominant inherited disorder. Its clinical manifestations are multiple basal-cell nevi and cysts of the jaw along with skeletal anomalies and various combinations of numerous other defects. NBCCS is characterized by a marked propensity for developing cancers. One of the most frequently reported tumour is brain medulloblastoma. We are reporting two cases of NBCCS and medulloblastoma. A review of the case reports demonstrates certain prominent features of medulloblastoma associated with NBCCS. The patients generally are males, presenting at an unusually young age, under 5 or 2 years and show a longer survival rate. Its lay down to search for NBCCS in early medulloblastoma's, especially under 2 years.

Adolescent↗

[Intraperitoneal testicular fetus in fetu].

A 5-month-old boy presented with a right flank abdominal mass. Plain film of the abdomen showed a vertebral column within the mass. Surgery confirmed the diagnosis of fetus in fetu developed within an ectopic intraperitoneal right testicle. Fetus in fetu differs from teratoma by the presence of axial skeleton and organogenesis. When intratumoral axial skeleton is present, plain films are sufficient for the diagnosis.

Axis, Cervical Vertebra↗

[Idiopathic achalasia of the esophagus in children. Report of 8 cases].

Achalasia of the esophagus is rare in children. The authors report eight cases and emphasize two atypical clinical records: The first one is a 3 month-old infant with respiratory distress and "near miss" Sudden Death Infant Syndrome. The second one is a ten year-old boy with association of achalasia of the esophagus, ACTH insensibility and alacryma. Theses cases are discussed.

Adolescent↗

[Pelizaeus-Merzbacher disease: the diagnostic contribution of MRI].

Pelizaeus-Merzbacher disease is a rare sex-linked leukodystrophy. Its metabolic basis has not been identified yet and diagnosis in mainly based on clinical findings and pathological investigation. Cerebral biopsy is not always performed because of lack of available therapy. Genetic counseling can be provided if the diagnosis is secured. Four cases are reported, in children with characteristic signs, who underwent magnetic resonance (MR) Imaging. MR Imaging appears to be more sensitive than computed tomography to visualize white matter disease: T1 weighted images suggest hypomyelination, in conformity with abnormal myelination. T2 weighted images show a non specific high signal in the white matter.

Brain↗

[Evolutive atlanto-axial luxation revealing chronic inflammatory rheumatism in children].

Atlanto-axial luxation in uncommon in chronic arthritis in childhood, especially early in the course of the disease. One case is described in which atlanto-axial luxation occurred early. Computed tomographic myelography showed the cervico-medullary compression which was treated by transoral anterior decompression and posterior occipito-cervical fusion.

Adolescent↗

[Antenatal diagnosis of lung malformations. Apropos of 9 case reports].

The authors report 9 cases of prenatal diagnosis of lung malformations. The diagnoses was performed between 17 to 33 weeks amenorrhea (mean = 25.5 weeks). The clinical findings were: 7 cystic adenomatoid malformations of the lung, 1 intralobar sequestration and 1 bronchogenic cyst associated with extralobar sequestration and esophageal duplication. In two cases of cystic adenomatoid malformation of the lung with polyhydramnios and fetal hydrops death occurred at 27 and 32 weeks amenorrhea. In the seven other cases surgery was performed shortly after birth, before any serious complications occurred. No problems were encountered following the surgical intervention and the remaining lung inflated after a few days. All these children are currently alive and well, without pulmonary or thoracic disorder. The authors first explain the echographic findings in each malformation and later discuss the sonographic criteria of the diagnoses. The antenatal diagnosis permits early recognition and thus adequate management using a team of neonatologists, radiologists and pediatric surgeons. This type management involves: --normal vaginal delivery if there are no obstetrical problems; --if it is possible, artificial ventilation should be avoided as it may increase respiratory distress. If however, it is necessary, the healthy lung should be intubated; --the surgical procedure should be performed as soon as possible, before complications as respiratory distress or recurring pulmonary infections occur; --the major risk of this surgery is respiratory and heart failure when the child is placed in the operating position. A rapid thoracotomy permits the extraction of the compressed lung and the resuscitation of the patient.

Cystic Adenomatoid Malformation of Lung, Congenita↗

[Radiologic change of cartilage of the pelvis and the upper end of the femur during growth. Application to the surveillance of scolioses].

We retrospectively studied the radiographic documents of seventy girls with bony age varying from nine to eighteen years old and divided in nine equal groups and seventy boys with bony age from ten to nineteen years old. We analyzed the AP pelvic X ray of each child focusing on cartilages and ossification centers of both pelvic bone and upper femoral extremity. The purpose of this study was to assess the dates of apparition and ossification of these ossification centers and the dates of fusion of cartilages. The iliac ossification center (epiphysaris nucleus ilii) appears lately at bony age of thirteen years and half for girls and fourteen years and half for boys. The triradiate cartilage closes the earliest from its medial to its lateral portion before the apparition of the iliac ossification center. This closing date corresponds to the beginning of growth acceleration. Therefore, the period of growth acceleration can be identified by an accurate analyse of the triradiate cartilage closure on a single AP pelvic X ray.

Adolescent↗

[Necrotizing enteritis during the therapeutic induction phase in leukemia. Value of surgical treatment].

A case of typhlitis in a 3,5 year old girl, during induction therapy for acute lymphoblastic leukemia is reported. This typhlitis, or necrotizing enterocolitis involving the coecum and right colon resulted in stercoral peritonitis during the neutropenic phase. After surgery, the patient had a favorable outcome with complete recovery. Knowledge about this uncommon but severe complication of hemopathies leads to follow clinical, microbiologic and radiologic rules of prophylaxis and screening. Typhlitis requires early treatment by supportive care and surgical cure if necessary.

Child, Preschool↗

[Magnetic resonance imaging in the diagnosis of an intraspinal arteriovenous malformation in a child].

A case of arteriovenous malformation of the spinal canal in a 8 year-old girl is reported. This child complained of night abdominal pain for several months, without diagnosis. Plain X-ray showed an enlargement of the lumbar spinal canal. Magnetic resonance imaging diagnosed a spinal vascular malformation, which was confirmed by angiography. Interest of MRI in such a case is emphasized.

Arteriovenous Malformations↗

[External epiphysiolysis with caput valga. Apropos of 2 cases].

External epiphysiolysis with valgus slip of the femoral epiphysis is rare. The authors report two such chronic cases, one unilateral and the other bilateral. This disorder complicates a coxa valga with a reversed cephalic growth plate, downward and externally. This coxa valga which appears constitutional is sometimes associated with an increase in femoral antetorsion. Treatment is the same as classical varus slip of the femoral epiphysis.

Adolescent↗

[Pseudo-ureteroceles resulting from the impression of a loop of a megaureter with an ectopic subvesical orifice].

The authors report 3 rare cases of pseudo-ureteroceles corresponding to a vesical imprint of an ectopic extra-vesical megaureter. When an ectopic extra-vesical ureter follows a sharp juxta-vesical buckle, it can give a deep imprint on the bladder and look similar to an ureterocele. I.V.P. and U.S. can be as misleading since the appearance of this type of megaureter and ureterocele can be similar, and differential diagnosis can be difficult. Such situations are rare. In a ten years of pediatric urologic practice, the authors who have investigated 51 ureteroceles and 26 extravesical ectopic ureters, have only observed 3 children with this lesion. These 3 cases corresponded to two simple ureters, in a 3 year old boy and in a 2.5 year old girl, and one upper ureter of a complete duplex system in a neonate baby girl with antenatal discovery. The clinical, radiological, sonographical and endoscopic clues to the diagnosis are discussed and illustrated.

Child, Preschool↗

[Spinal localization of a solid aneurysmal cyst. Clinical, radiologic and histopathological aspects].

An 8 year old child with a "solid" aneurysmal cyst of L4 posterior arch was investigated by straight films, bone scintigraphy and CT scans. The suggested diagnosis had been a benign tumor, probably an osteoblastoma. Initial histopathology results were in favor or a non ossifying fibroma or a chondromyxoid fibroma, this lacking concordance with the usual epidemiology of primary spinal tumors in children. A description is given of the histologic characteristics of this new histopathologic entity first described by Sanerkin in 1983.

Bone Cysts↗

[Magnetic resonance imaging in spinocerebellar degenerative diseases (apropos of 8 cases)].

The results of NMR imaging in 8 cases of spinocerebellar degenerative diseases (age 4 to 19 years) are presented. In Friedreich ataxia (5 cases), spinal atrophy was constant and often severe, and was associated with a moderate cerebellar and/or bulbar atrophy in 3 cases. In hereditary spastic paraplegia, the only finding was a mild spinal atrophy in 2 of the 3 cases.

Adolescent↗