Occipito-atlantal translation in Down's syndrome

Several cases of occipito-atlantal instability have been reported in patients with Down's syndrome. However, standards for radiographic measurement and normal values for translational motion at the occiput-C1 level have not been established for the Down's patient. A retrospective analysis of 102 flexion and extension lateral cervical spine radiographs of 73 patients with Down's syndrome was performed. Patients with congenital cervical spine anomalies, C1-C2 instability, or previous neck surgery were excluded. Occiput-C1 translation was measured by the technique described by Wiesel and Rothman. In normal adult patients, occiput-C1 translation should be no more than 1 mm by this method. Analysis of the data demonstrated a range of 0 to 10 mm, with a mean of 2.62 mm and a standard deviation of +/- 1.94 mm. Only 30 sets of films (29%) representing 27 patients (37%) showed anteroposterior translation of 1 mm or less. This laxity was not dependent on patient age in the current study group. A review of these patients' medical records did not disclose any evidence of impaired neurologic function related to cervical spine instability. The authors' data suggest that the prevalence and magnitude of occipito-atlantal instability in Down's syndrome is greater than previously appreciated.     

Mesangiocapillary glomerulonephritis in Down's syndrome.

The clinical and pathologic features of progressive renal disease in 4 patients with Down's syndrome are described. All patients were male, between 20 and 30 years of age at the time of clinical presentation. Three out of 4 had proteinuria, and 2 had hematuria. Serologic tests for hepatitis B virus infection and antinuclear antibodies performed in 2 patients were negative. Examination of renal tissue from biopsy and/or from autopsy revealed mesangiocapillary glomerulonephritis (MCGN), type 1. While an increased incidence of congenital heart disease and acute leukemias has been documented in Down's syndrome, an association with MCGN has not been reported previously to our knowledge. This probably represents a form of idiopathic MCGN and may be related to the long survival of these individuals.     

An autopsy case of Down's syndrome with moyamoya syndrome

We reported an autopsy case of Down's syndrome with moyamoya syndrome. A 30-year-old male with Down's syndrome suffered from a cerebral infarction and died of brain herniation. Cerebral angiography showed vascular abnormalities that were the same as moyamoya disease. Pathological findings revealed multiple stenosis of main trunk of the cerebral arteries. Pathologically, the stenosed vessels showed eccentric intimal thickness with cholesterin deposit, unlike moyamoya disease. There are only two previous reports of autopsied cases of Down's syndrome with moyamoya syndrome. We postulate that a protein encoded on chromosome 21 may be related to the pathogenesis of Down's syndrome with moyamoya syndrome.     

Down's syndrome with hydrocephalus treated by compressive head binding.

A child with Down's syndrome, hydrocephalus and porencephaly is described, and treatment by compressive head binding is discussed. Although binding did not stop enlargement of the head it did achieve a reduction in the rate of enlargement.     

Leukaemogenesis in Down's syndrome.

Due to the fixed karyotype and documented malignancy risk in patients with Down's syndrome, recently described aetiological factors can be assigned to their proper places in a conceptual framework for leukaemogenesis in these individuals. This is a more profitable approach than those in which various types of karyotypic patterns are matched to different malignancies. It seems that viruses may play a special role, but they need interaction with other factors, most of which are present in Down's syndrome. A unifying concept which may be helpful in establishing research priorities is presented.     

Atlanto-axial subluxation in Down''s syndrome

A case of atlanto-axial subluxation in a patient with Down's syndrome is described. The gradual deterioration in the patient's locomotor ability caused a delay in diagnosis. Patterns of presentation of this condition are discussed.     

Hip joint problems in patients with Down's syndrome]

10 patients with Down's syndrome and hip disorders have been examined. Hip instability was present in 5 patients: habitual dislocations occurred in 2 patients, persistent subluxation was found in 2 patients and 1 patient had bilateral fixed hip dislocation. Hip instability usually occurs after the begin of walking and we suggest to perform regularly radiographic examinations on hip instability. Other hip disorders as slipped femoral capital epiphysis may be complicated by hip instability. Legg-Calvé-Perthes disease was found in 2 patients and slipped femoral capital epiphysis in 3 patients. 7 of the 10 patients underwent operative treatment. Subsequently a second or third operation was necessary in 2 patients because of an unexpected instability of the hip following the primary surgery. This was caused by the ligamentous laxity which is often found in Down's syndrome. An increased rate of infections is known in trisomy 21 and wound infections occurred in 2 of the 7 operated patients. Therefore we recommend to consider ligamentous laxity and susceptibility to infection in the treatment of hip disorders in Down's syndrome.     

Down's syndrome, complete atrioventricular canal, and pulmonary vascular obstructive disease

We reviewed our experience over a 10-year period to determine whether children with Down's syndrome and complete atrioventricular canal develop pulmonary vascular obstructive disease earlier than children with normal chromosomes and this defect. Comparisons were made between Down's syndrome and normal chromosome children regarding (1) pulmonary blood flow and pulmonary vascular resistance at initial catheterization, (2) operability as related to elevation in pulmonary vascular resistance, and (3) age at diagnosis of fixed pulmonary vascular obstructive disease. The 45 patients with Down's syndrome catheterized under 1 year of age had a lower mean pulmonary blood flow (3.2 versus 5.7; p = 0.0001) and higher mean pulmonary vascular resistance (8.3 versus 4.6 Wood units.m2; p = 0.0003) than their 34 normal chromosome counterparts. When all ages were included, 38 of 81 (47%) of the children with Down's syndrome and 32 of 40 (80%) of the normal children were considered operable. Non-Down's syndrome patients who had operations had a higher pulmonary blood flow (5.8 versus 3.3; p = 0.004) and lower pulmonary vascular resistance (3.6 versus 6.0 Wood units.m2; p = 0.005) than Down's syndrome patients. Of the 34 patients who did not have operations because of pulmonary vascular obstructive disease, 31 had Down's syndrome. In 10 of 81 children with Down's syndrome, fixed pulmonary vascular obstructive disease was diagnosed before the age of 1 year, while this was found in none of 40 normal children. Our data demonstrate that Down's syndrome patients with complete atrioventricular canal have a greater degree of elevation of pulmonary vascular resistance in the first year of life and more rapid progression to fixed pulmonary vascular obstructive disease than children with normal chromosomes.     

Islet autoimmunity in children with Down's syndrome

There is an unexplained excess of type 1 diabetes and other organ-specific autoimmune diseases in children with Down's syndrome, but the immunogenetic characteristics of diabetes in Down's syndrome have not been investigated. We studied the frequency of islet autoantibodies in 106 children with Down's syndrome and no history of autoimmunity and analyzed HLA class II genotypes in 222 children with Down's syndrome, 40 children with Down's syndrome and type 1 diabetes, 120 age- and sex-matched children with type 1 diabetes, and 621 healthy control subjects. Co-occurrence of at least two islet autoantibody markers was observed in 6 of 106 nondiabetic children with Down's syndrome compared with 13 of 2,860 healthy age-matched children (P < 0.001). There was an excess of diabetes-associated HLA class II genotypes in children with Down's syndrome and type 1 diabetes compared with age- and sex-matched healthy control subjects (P < 0.001). Down's syndrome children with type 1 diabetes were, however, less likely to carry the highest risk genotype DR4-DQ8/DR3-DQ2 than children with type 1 diabetes from the general population (P = 0.01) but more likely to carry low-risk genotypes (P < 0.0001). The frequency of subclinical islet autoimmunity is increased in Down's syndrome, and susceptibility to type 1 diabetes in Down's syndrome is partially HLA mediated. Other factors, possibly including genes on chromosome 21, may increase the penetrance of type 1 diabetes in Down's syndrome.     

A case of Down's syndrome associated with testicular seminoma

Down's syndrome is an inherited disorder caused by trisomy of chromosome 21. In patients with Down's syndrome, an increased risk of leukemia has been observed. Recently, the coincidence of testicular cancer with this syndrome has been also emphasized. We present a case of Down's syndrome associated with testicular seminoma. This is the 19th case of Down's syndrome associated with testicular tumor in Japan.     

Anorectal malformation and Down's syndrome in monozygotic twins

Anorectal malformation (ARM) can be divided in high, intermediate, and low forms according to the level of termination of the rectum in relation to the pubococcygeal and ischiatic lines. Patients with Down's syndrome have a high incidence of gastrointestinal anomalies, such as tracheoesophageal fistula, duodenal obstruction, annular pancreas, Hirschsprung's disease, and ARM. In these children, ARM is generally low with or without a fistula. The mode of inheritance of ARM and its genetic relation with Down's syndrome is not known, even if the association (ARM-Down's syndrome) seems not to be coincidental. We describe here a very rare case of monozygotic twins born with the association of ARM and Down's syndrome.     

Effect of Down's syndrome on perioperative and long-term prognosis after ventricular septal defect repair

In this study, we investigated perioperative and long-term prognosis and the risk of major complications after repair of ventricular septal defect in 48 patients with Down's syndrome who underwent ventricular septal defect repair between May 1980 to August 1999 were compared with those in 48 patients with normal chromosomes matched for age and time period. Pp/Ps were significantly lower after the operation in both groups; however perioperative and postoperative Pp/Ps of Down's syndrome group were significantly higher than that those of control group. The duration of intubation was significantly longer in the Down's syndrome group and the case-control study revealed that the risk of long intubation (> or = 7 days) was significantly higher in the Down's syndrome group, but the incidence of PH crisis did not differ between the 2 groups. The main reasons of prolonged intubation period were respiratory complications such as pneumonia or atelectasis. In Down's syndrome group, a 5 months old boy died of heart failure on the 5th postoperative day. All other patients were survived through a mean follow-up period of 122.4 months (the follow-up rate was 95.8%). In conclusion, the perioperative and long-term prognosis after ventricular septal defect repair in patients with Down's syndrome were similar to those in patients with normal chromosome.     

Atlantoaxial dislocation presenting as sudden onset of quadriplegia in Down's syndrome

A sudden onset of quadriplegia and dyspnea occurred in a 4-year-old girl with Down's syndrome, who had been noted to have atlantoaxial dislocation. She underwent cervical immobilization initially with a halo-vest and subsequently by posterior fusion, resulting in significant functional recovery. The catastrophic myelopathy that occurred in this patient emphasizes the necessity of treatment even for asymptomatic atlantoaxial instability in some individuals with Down's syndrome.     

The hip joint in Down's syndrome. A study of its structure and associated disease.

Clinical and roentgenographic examination of the hip was performed in 114 patients with Down's syndrome to study range of motion, roentgenographic anatomy, and incidence of hip pathology. The study found increased external rotation of the hip. Roentgenographic studies demonstrate that, in comparison with a normal acetabulum, the acetabulum of a patient with Down's syndrome is deep, more horizontally placed, and has increased anteversion. The proximal femur of a patient with Down's syndrome has a normal neck-shaft angle and a moderate increase in anteversion. Of the patients, 7.9% had some hip abnormality, including dysplasia, dislocation, avascular necrosis, or slipped capital femoral epiphysis.     

Effective treatment by orthosis of dislocation of the patella associated with Down's syndrome. A report of case.

The authors reported a case of recurrent dislocation of the patella associated with Down's syndrome. As for treatment, it is important to consider the levels of intelligence and daily activity, severe obesity, and certain internal medical conditions associated with this disease. Primary orthotic treatment is recommended for subluxation or reducible dislocation of the patella.     

Seminoma associated with bilateral cryptorchidism in Down's syndrome: A case report

BACKGROUND: A case of testicular typical seminoma associated with bilateral undescended testes in Down's syndrome is reported. A 42-year-old institutionalized male patient developed left testicular seminoma with retroperitoneal metastasis. METHODS/RESULTS: Neither adjuvant chemotherapy nor radiotherapy were performed due to his severe mental retardation. He died as a result of the cancer 2 years after a left radical orchiectomy and an autopsy was carried out. DISCUSSION: Recently an increase in the incidence of the association of testicular tumors and Down's syndrome has been repeatedly documented. Thirty-six cases of testicular tumors associated with Down's syndrome have been reported and of these 17.1% had cryptorchidism. This is a much lower percentage considering the high risk of cryptorchidism in males with Down's syndrome. The relationship between testicular germ cell tumors associated with cryptorchidism and Down's syndrome is discussed.     

POST-EXTUBATION STRIDOR IN DOWN'S SYNDROME

Five hundred and seventy-five children requiring intermittentpositive pressure ventilation of the lungs after cardiac surgerywere reviewed. Thirteen had Down's syndrome. Approximately 38%of the Down's syndrome group and 1.9% of the remaining 562 patientsdeveloped stridor. Reasons for the increased frequency of stridorin patients with Down's syndrome are examined     

Periacetabular osteotomy in patients with Down's syndrome

We treated eight dysplastic acetabula in six skeletally mature patients with Down's syndrome by a modified Bernese periacetabular osteotomy. The mean age at the time of surgery was 16.5 years (12.8 to 28.5). Mean length of follow-up was five years (2 to 10.4).Pre-operatively the mean (Tonnis) acetabular angle was 28 degrees, the centre-edge angle was -9 degrees, and the extrusion index was 60%; post-operatively they were 3 degrees, 37 degrees, and 17%, respectively. Two patients with post-operative (Tonnis) acetabular angles > 10 degrees developed subluxation post-operatively and required secondary varus derotation femoral osteotomies. Another patient developed a late labral tear which was treated arthroscopically. All eight hips remain clinically stable, and are either asymptomatic or symptomatically improved.These results suggest that the modified Bernese periacetabular osteotomy can be used successfully in the treatment of acetabular dysplasia in patients with Down's syndrome.     

Intrahepatic biliary atresia in Down's syndrome.

A case of intrahepatic atresia in Down's syndrome is presented. It seems likely that atresia of intrahepatic bile ducts in Down's syndrome is due to a chromosomal disorder.     

Prevalence of left-sided obstructive lesions in patients with atrioventricular canal without Down's syndrome

Ninety consecutive patients with atrioventricular canal were studied to identify the association between left-sided obstructive lesions and Down's syndrome. Three groups were recognized: Group I, 76 patients with atrioventricular canal and no left-sided obstructions; Group II, nine patients with atrioventricular canal and left-sided inlet obstructions; Group III, five patients with atrioventricular canal and left-sided outlet obstructions. Of the 90 patients studied, 47 had Down's syndrome and only one of these had a left-sided obstructive lesion. Of 43 without Down's syndrome, 13 or 30% had left-sided obstructive lesions with predominating lesions at the inlet level caused by right ventricular dominance.