Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family.

Hereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X-linked. We report on 3 sibs with multiple-level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous. To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.

Traumatic chylous ascites: conservative management.

Traumatic chylous ascites is very rare. In the majority of cases, the diagnosis is made by laparotomy. The case of a 5-year-old girl with traumatic chylous ascites is presented. The authors give their experience in nonoperative management.

Reconstruction of the perineal body after recurrence of a recto-perineal fistula in an intermediate type of anorectal malformation in a young woman.

The appearance of a recto-perineal fistula post-operatively in an intermediate type of anorectal malformation is rare. It always gives rise to incontinence. However, the closure of this fistula is particularly difficult since recurrence is frequent. The following case report concerns a patient who after several unsuccessful attempts to close the fistula, had a local rotation flap which permitted good healing and a beneficial effect on continence thanks to a good reconstruction of the perineal body.

Incontinence and constipation after low anorectal malformations in a boy.

BACKGROUND: Low anorectal malformations are considered to be a benign type of anorectal malformations. Their treatment is simple in the neonatal period and gives good results as far continence is concerned. METHODS: We studied a group of 55 boys with low anorectal malformations which had been surgically treated between the 1st January 1975 and the 31st December 1992. We studied the initial treatment and the associated anomalies, 5 patients have died. 27 were seen for an interview and a clinical examination. Extra investigations (anorectal manometry or electromyography of external sphincter) were only offered to consenting patients with an ongoing problem. RESULTS: 3 to 20 years had passed since their operations. Associated anomalies had been found in 11 children. The initial treatment was a perineal procedure in 20 cases and a colostomy in 8 cases. Dilatations were carried out on 11 children. Faecal and urinary continence had been acquired before 30 months of age. 13 children (48%) had problems of soiling and/or chronic constipation. There was no difference between these children and the 14 continent ones regarding the type of malformation, the initial treatment and the follow-up. Anorectal manometry (performed on 9 cases) showed 4 anorectal dyssynergies. It was normal in 3 cases. The Recto Anal Inhibitory Reflex was always present. CONCLUSION: Problems of continence are not rare in the evolution of low anorectal malformations. We suggest therefore a long-term clinical follow-up for those children, with one anorectal manometry control being performed after continence is acquired.

Peritoneal pseudocyst--ventriculo-peritoneal shunt complications.

Pseudocyst formation is a rare complication of ventriculo-peritoneal shunt, occurring in only 22 cases of 1300 shunts from 1968 to 1992. The most common presentation is that of abdominal signs rather than neurological or infectious signs. The diagnosis is easy with ultrasonography. The difficulty is to evocate the cyst and to correlate symptoms and cyst. Treatment of the cyst was by aspiration (21 cases) and excision in 7 cases. The therapeutic choice is made according to the ultrasound findings. When the cyst was infected, an external ventricular shunt was used temporary, but this type of shunt must be avoided where possible. Three patients died.

Incidence of urinary tract infection in neonates with antenatally diagnosed ureteroceles.

PURPOSE: To evaluate the incidence of neonatal urinary tract infection (UTI) in the presence of a ureterocele. PATIENTS AND METHODS: Fifteen successive patients with antenatally detected ureteroceles were reviewed between 1991 and 1996. Sixteen ureteroceles were treated (in one patient they were bilateral). Seven ureteroceles were intravesical, and nine were ectopic. Fourteen patients had a duplex upper tract associated with a ureterocele. One patient had one duplex upper tract and one simple upper tract, both associated with a ureterocele. RESULTS: Of the fifteen neonates with a ureterocele, eight already had a UTI on admission. Of these, three had had prophylactic antibiotics. Of the eight infected patients, seven were symptomatic (three with septicaemia). CONCLUSION: If diagnosed antenatally, obstruction has to be relieved as early as possible during the first week of life as antibiotic prophylaxis alone is not sufficient to avoid UTI in these patients. The authors point out the high frequency of UTI in patients with ureterocele.

The treatment of duplication thumbs in children. About a series of 32 patients.

29 children with 32 duplicated thumbs were followed up. Wassel's classification was used: type I (3 cases), type II (8 cases), type IV (16 cases), type V (3 cases), type VII (2 cases). There were no type III or VI cases. Seven cases were not operated on (minor abnormalities, refusal by the parents). Simple surgical ablation was performed in 12 cases, ablation with reconstruction in 10 cases, ablation with pollicisation in one case, ablation with longitudinal osteotomy in one case. Finally, Bilhaut's technique was performed in one case. 16 cases had a good result, 9 cases were disappointing with one case of stiffness, one step deformity, one protrusion of the metacarpal head and particularly 6 cases with joint instability. This latter complication is the most frequently encountered in various series and the authors emphasize the surgical precautions to avoid its occurrence.

Congenital annular constricting band: a case report with pseudarthrosis and review of the literature.

A case of congenital annular constricting band syndrome with an open pseudarthrosis of the tibia and fibula is reported. Ischemia, neurological defect and major lymphoedema were present. The child had an emergency treatment combining an external fixator and a one-stage resection of the constricting band. Bone union was obtained within 4 weeks and complete neurological recovery at 6 months. Long-term result, with realignment and normal function, is satisfactory. A review of the literature is undertaken. Amputations are frequent, however pseudarthroses are rare. One-step treatment of the band has been proposed by certain authors. Neurological recovery is usual. The risk of ischemia favors an early surgical treatment.

Use of Ethibloc in the treatment of cystic and venous angiomas in children. 19 cases.

The authors report the use of Ethibloc in the treatment of cystic lymphangiomas and venous angiomas in 19 children. This embolizing product is injected by puncture in situ. Ten cystic lymphangiomas were treated, including 7 of the cervico-facial region. Of these ten, 8 were embolized initially using Ethibloc, and 2 after surgery. The diagnosis was always confirmed by echography and in some cases also by scanner. Six were completely cured and 2 had partial but satisfactory results requiring further injections. The final 2 cases when Ethibloc was administered after surgery, gave very disappointing results as the residual lesion was microcystic and thus difficult to access for the Ethibloc injection. The 9 venous angiomas involved various regions, including 5 facial lesions. These angiomas required a more extensive blood-clotting and radiologic assessment: standard radiography to detect the clot, Doppler echography and M.R.I. precisely clarifying the exact extension in depth. For 6 patients the cure was complete, for 2 others the results were good. Finally, in 1 case Ethibloc embolization was carried out prior to surgery, allowing definitive cure. In all, this technique resulted in a complete cure in 2/3 of the cases and its simplicity makes it a seemingly interesting alternative to surgery.

Congenital pyloric stenosis: a modified umbilical incision for pyloromyotomy

Thirty-two patients underwent a pyloromyotomy via an umbilical incision; in 11 a modified umbilical approach was used to facilitate delivery of the pyloric mass. Incisions are made in the skin fold of the upper half of the umbilicus and at the midline, joining the two at the top. The skin incision is closed by upper umbilical translocation with a very good cosmetic result. This incision allows easy access to the pylorus and provides more convenient exposure. The absence of traction on the retractors avoids tissue ischemia, which leads to wound abscess development.

[Chest injuries in children. Apropos of 93 cases]. / Les traumatismes du thorax chez l'enfant. A propos de quatre-vingt-trieze observations.

UNLABELLED: Ninety-three cases of thoracic trauma (age ranging from 1.1/2 to 15 years) were observed over a 10 year-period (1980-1990): 86 cases of blunt trauma and 7 cases of perforating injuries. Road accidents were the most prevalent (63 cases) followed by home and sport injuries (9), falls (9), perforating trauma (9) and others. Associated lesions were frequent: skeletal (67), abdominal (19), and head injuries (5)--the latter influence the vital prognosis. Rib fractures were observed in 60% of cases of blunt trauma (86). Pulmonary lesions were as follows: pneumothorax (41), hemothorax (21), and lung contusions (29). In 48 cases, several of these pulmonary lesions were associated. Diagnosis and therapy problems were encountered in 21 cases. Results were as follows: 3 deaths, within 24 hours due to hemorrhage (1 case with aortic lesion). FOLLOW-UP: 85 good results, 5 sequelae, without any clinical consequence--either pleural (2), diaphragmatic (2), or lung (1). The treatment was as follows: none (27), pleural aspiration (2), thoraco-synthesis by drain in other cases for 2 to 9 days. Surgery was necessary in 10 cases, with 2 thoracotomies, 1 orthopedic traction, 1 embolization of iliac artery.

[Trichobezoars in children and adolescents]. / Trichobézoards de l'enfant et de l'adolescent.

BACKGROUND: Trichobezoars are composed of hair or fibres. The typical patient presenting with a trichobezoar is an adolescent girl experiencing mental disturbance or retardation. CASE REPORT: Three girls with trichobezoars were seen. Two of them, 4 and 15 years old, had serious digestive antecedents (corrosive oesophagogastritis and oesophageal atresia, respectively) and had undergone previous surgery. The third was a 13-year-old mentally retarded girl. In two cases, an enzymatic dissolution trial was unsuccessful, requiring secondary surgical removal after, in one case, ineffective gastroscopic removal complicated by an oesophageal perforation. The third child had an initial operative removal. DISCUSSION: Serious digestive antecedents may favour bezoars, a diagnosis that must be evoked in such patients presenting with chronic digestive symptoms. Enzymatic dissolution is ineffective for large bezoars, and gastroscopic removal carries some risks such as perforation or intestinal obstruction. Operative removal is usually indicated. Psychiatric follow-up is needed to prevent this complication in children with serious digestive antecedents and to reduce the risk of recurrences.

[Long-term follow-up of children with esophageal caustic stenosis]. / Evolution à long terme des sténoses caustiques de l'oesophage de l'enfant.

BACKGROUND: Long term follow-up of children with esophageal caustic stenosis is not well known. The aim of the present study was to describe functional, organic and psychological, as well as social consequences. PATIENTS AND METHODS: Thirty-four children with a mean age of 3 years and 7 months +/- 3 years and 2 months (ranges: 1 month-14 years and 3 months) were included in a longitudinal study. Various parameters have been studied: treatment, functional symptoms, nutritional status (weight/height, body composition) and psychological and social consequences. chi 2 and Mann-Whitney tests were used for statistical analysis. RESULTS: Twenty-one patients have been treated by mechanical dilatations whereas surgery was performed in 12 children; the mean number of dilatations per child was higher in patients treated by dilatations (21 +/- 17 vs 14 +/- 16; P < 0.05). The frequency of dysphagia was not different in patients with colon interposition or not (69% vs 53%; P = 0.1). Nutritional status was not affected by the presence of esophageal caustic stenosis. Psychological and social consequences were characterized by scholastic difficulties, anxiety and severe depression. One case of suicide was observed. CONCLUSION: Children with caustic stenosis should be followed for a long period of time. A multidisciplinary approach is necessary, taking into account medical, social and psychological consequences.

[Recurrent fistulas in the treatment of anorectal malformations]. / Les fistules récidivantes dans le traitement des malformations ano-rectales.

42 observations of imperforate anus with recurrent recto-urethral or rectovaginal fistula are summarized. The results are divided in early good results: 32 cases and poor results 10, all re-operated one or more times; at long term, were obtained 39 good, 2 poor results and one with short follow-up. Two factors may determine the recurrence of fistula: earlier post-surgical infection, and technique of rectal dissection.

[Injuries of the rectum in children. 79 cases]. / Les traumatismes du rectum chez l'enfant. 79 observations.

The observations of 79 patients with rectal or ano-rectal lesions were studied in 15 centers, on a 25 years period. The etiology of the lesions was: 23 patients which suffered from traffic road accident, 39 patients which suffered from impaling, 10 patients with lesions caused by foreign bodies, 6 patients which suffered sexual violence and 1 patient with other causes. The primary results were: 2 patients who died, and 27 patients who suffered from other complications. 19 of them were of infectious nature and the other 6 suffered from urethral-rectal or vaginal-rectal fistula. The secondary results showed that 28 patients developed early complications and 1 patient developed late complications. The majority of the complication were: 9 anal stenosis and 11 were anal sphincter incompetence. The analysis of the results showed the factors implicated in the appearance of these complications, which were: the initial unknown nature of the lesions in the polytraumatised patients, the nature of the lesions, the associated lesions of the sphincter or the perineum, the late diagnosis and the factors which increase the risk of an early infection.