Cholelithiasis in infants with Down syndrome: report of two cases

Down syndrome is a chromosomal disorder most often observed in the newborn period. Various facial, limb and internal abnormalities are found in this disorder but cholelithiasis in infancy has been described in only one report. We report two infants with Down syndrome associated with cholelithiasis. Except for polycythemia and indirect hyperbilirubinemia, no hemolytic process or biochemical abnormalities were evident in both patients. We believe that the cause of gallstones in our cases may have been polycythemia in the newborn period. To our knowledge this is only the second report of gallstones in infancy in Down syndrome.     

Down syndrome and coeliac disease: five new cases with a review of the literature

We report five new patients with coeliac disease and Down syndrome and review the 11 cases previously reported in the literature. In 14 of these 16 patients diarrhoea was the presenting symptom and in 2 failure to thrive in combination with anaemia. The frequency of coeliac disease in children with Down syndrome was calculated as being 43 times greater than in children without Down syndrome. Delay between first symptoms and diagnosis in patients with combined coeliac disease and Down syndrome was 2.5 years, while in the other children with coeliac disease it was only 8 months. This distinctive difference could be caused by an underestimation of the seriousness of gastro-intestinal complaints in patients with Down syndrome. It is stressed that coeliac disease should be strongly considered in all children with Down syndrome and either persistent diarrhoea or failure to thrive.     

West syndrome associated with Down syndrome: Case report and literature review

West syndrome is the most frequent cause of epilepsy in Down syndrome. West syndrome is often associated with poor long-term prognosis in most of children. We report a girl with West syndrome associated with Down syndrome which occurred at 8 months of age for repetitive flexor spasms and electroencephalography (EEG) showed hypsarrhythmia. She had Down syndrome facies, microcephaly, psychomotor development delay and axial hypotonia. Computed tomography of the brain was normal. Her karyotype was 47, XX, +21. Phenobarbital therapy was immediately effective with good clinical control of seizures, while the EEG monitored after one month was unchanged. At 2 years of age, the patient had hypertonic status epilepticus following a lung infection. The EEG showed a persistence of hypsarrhythmia. Sodium valproate and hydrocortisone therapy was effective with good seizure control but her psychomotor development was severely impaired. After a follow-up of 7 years, the patient presents growth retardation, microcephaly, severe psychomotor development delay, generalized hypotonia and tetraparesis. Knowledge of West syndrome in Down syndrome allows the early detection and prompt management of this neurological complication in order to optimize psychomotor development and improve the quality of life of these children.     

Erythrocyte macrocytosis in infants and children with Down syndrome.

Erythrocyte mean corpuscular volume and mean corpuscular hemoglobin levels were higher in children with Down syndrome than in normal control subjects. Reference values for mean corpuscular volume and mean corpuscular hemoglobin level derived from normal populations may be inappropriate for children with Down syndrome. These findings may have important implications for the diagnosis of iron deficiency in these children.     

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目的加强对Crouzon综合征的认识。方法对2007年1月至2010年10月在中国人民解放军总院儿科和首都医科大学附属北京儿童医院临床诊断Crouzon综合征的6例患儿临床资料进行总结并回顾相关文献。结果 Crouzon综合征有典型的颅面特征,主要表现为短头、眼眶浅、眼球突出、鹰钩鼻、上颌骨发育不良和下颌相对前突等颅面畸形。手足外观正常。常伴视力障碍、听力异常、鼻塞及上下呼吸道阻塞等。结论 Crouzon综合征是一种常染色体显性遗传病,发病机制不明,目前主要倾向FGFR突变介导的颅缝早闭,致使面中部发育不良,尚无特殊治疗,部分可对症进行手术修复,对其病理机制应进一步探讨,早期进行产前诊断。     

Sensory evoked potentials in infants with Down syndrome

Aim: To investigate the sensory functions of the peripheral to central pathways in infants with Down syndrome (DS) by sensory evoked potentials. Methods: Fifty-five infants, 30 DS infants and 25 controls, were examined by multimodal evoked potentials, including brainstem auditory evoked potentials (BAEP), visual evoked potentials (VEP) and short-latency somatosensory evoked potentials (SSEP). Results: No obvious difference was found in the peak latencies between the two groups for BAEP. Nine children with DS showed abnormal BAEP; six had hearing loss and three had prolonged wave I latencies. For VEP, the peak latencies of P₂ and N₂ were significantly longer and the amplitudes were smaller in the DS group than in the control group. Of the 30 infants with DS, five had significantly prolonged P₂ latencies and two had lower amplitudes. In SSEP, the mean latencies of N₂₀ and the interpeak latencies of N₁₃-N₂₀ of the infants with DS showed apparent prolongation compared to the controls. Seven of 30 (23.3%) DS patients had prolonged N₂₀ latencies.

Conclusion: Our results indicate that various sensory deficits occur in patients with DS during the first year of life.     

早产儿急性阑尾炎4例临床分析及文献复习

目的探讨早产儿急性阑尾炎的临床特点及诊治体会,以提高对该病的早期识别和救治率。方法回顾性分析并总结解放军总医院第七医学中心八一儿童医院新生儿重症监护病房收治的4例早产儿急性阑尾炎的临床资料,包括临床表现、早期诊断、术中诊断等。同时在万方、中国知网、维普、PubMed等数据库中组合检索相关文献并分析。结果①病例资料:本文4例早期均以"腹胀"为首发症状,炎性指标明显升高,予以急诊手术,均术中诊断急性阑尾炎,其中2例为单纯急性阑尾炎,余2例为新生儿坏死性小肠结肠炎(neonatal necrotizing enterocolitis,NEC)合并阑尾炎。术后予积极抗感染、补液等治疗,4例均痊愈出院。②文献复习:经过阅读与筛选,中文文献数据库检索出早产儿急性阑尾炎文献8篇,Pub Med检索出10篇。国内外近30年早产儿急性阑尾炎相关文献报道较少,文献多以病例报道、误诊分析等为主。其中国内8篇文献,共报道早产儿急性阑尾炎35例,男27例,女7例,1例文献未描述性别;症状以腹胀、吐奶为主;32例穿孔,1例未穿孔,1例为早产儿阑尾炎合并肠套叠,另1例为合并腹股沟嵌顿疝;死亡1例(2.9%),其余均积极手术治疗后治愈出院。国外文献共10篇,早产儿急性阑尾炎共11例,男9例,女2例;穿孔5例,败血症2例,血便1例,腹股沟嵌顿疝3例,无死亡病例。11例中,早期均未诊断急性阑尾炎,均为术后诊断。结论早产儿急性阑尾炎无特异性临床表现,误诊率高,术前诊断较难,需结合腹部查体、X线片、B超及剖腹探查术明确。临床怀疑本病时应早手术探查,降低病死率。     

Patterns of cardiac care in infants with Down syndrome

To determine if the pattern of cardiac care is affected by the presence of Down syndrome (DS) we analyzed the records of infants enrolled in the Baltimore-Washington Infant Study, a regional case-control study of congenital cardiovascular malformations. The age at cardiac diagnosis, the timing of cardiac surgery, and the one-year outcome were compared in 160 infants with DS and 540 infants with the same cardiac diagnoses but without chromosomal or other extracardiac anomalies (Isolated cardiovascular malformation [ICM] group). Cardiac referral and diagnosis were accomplished by 13 weeks of age in 78% of infants with DS and 67% of those with ICMs. However, by 26 weeks of age, the proportion of infants in both groups was comparable. Cardiac surgery was performed before 1 year of age in 99 of 160 infants with DS and in 141 of 540 infants with ICMs. The surgical outcome was similar in the two groups. We conclude that for defects of comparable severity, the pattern of cardiac care in the Baltimore-Washington, DC, area for infants with DS is timely and comparable to care for infants with ICMs.     

Cholelithiasis in Down's syndrome.

Cholelithiasis is considered uncommon in infancy, childhood, and adolescence. We performed a prospective, controlled study showing that children with Down's syndrome have a significantly higher prevalence of cholelithiasis (4.7%) compared with controls (0.2%). Clinicians should be aware of the risk of gallstones in children with Down's syndrome.     

Preleukemic syndrome in children. Report of four cases and review of literature

Childhood preleukemia, known as a rare condition, was evaluated in four of the authors' cases and in 24 cases from the literature. The required condition was evolution into overt acute leukemia. The children were 5 months to 15 years of age, and the preleukemia period ranged from 2 to 42 months. The symptoms and physical signs were nonspecific. Different kinds of cytopenia were found in the peripheral blood. Twelve children developed ALL and 16 developed AML. The analysis revealed that in childhood there exist two different types of preleukemia: pre-ALL and pre-AML. The age and sex distribution were different, as were the hematological changes. The marrow was usually hypoplastic in pre-ALL but hyperplastic in pre-AML. True hypoplasia in any of the three cell lines was more common in pre-ALL, whereas ineffective thrombopoiesis and normal or increased myelopoiesis were specific for pre-AML. Ineffective erythropoiesis was characteristic of both types. A typical chromosomal change in marrow, seen in pre-AML only, was a missing group C chromosome. The childhood pre-AML resembled adult preleukemia (also pre-AML) in many aspects, whereas the childhood pre-ALL seemed to be a different entity. It might be assumed that all preleukemic conditions do not evolve to overt malignancy. The incidence and true prognosis therefore remain unknown.     

The Hajdu-Cheney syndrome. Report of two cases and review of the literature.

The Hajdu-Cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.     

HACEK endocarditis in infants and children: two cases and a literature review

We report 2 cases of Haemophilus parainfluenzae endocarditis and review 34 cases of HACEK endocarditis from the literature. HACEK organisms are the most common cause of Gram-negative endocarditis in children. They have a propensity to form friable vegetations (especially H. parainfluenzae) that break off and cause symptomatic emboli. HACEK endocarditis (from a review of the 36 published cases) may involve previously normal hearts (33%), may be complicated by embolization (31%) and may require vegetectomy or other surgery (31%). Mortality with HACEK endocarditis was 14%. HACEK organisms may be resistant to penicillins but are susceptible to third generation cephalosporins.     

Nesidioblastosis in infants: report of two cases and review of the literature

In the last 2 years, two newborns were found to have persistent hypoglycaemia due to nesidioblastosis. Both required more than 15 mg/kg/min IV glucose and had inappropriately high plasma insulin levels. Near-total pancreatectomy (NTP) with splenic conservation was curative in both, with negligible morbidity and no mortality. Prompt diagnosis and stringent control of plasma glucose with hourly monitoring in an intensive care unit, use of a central venous line, and oral diazoxide prevented subsequent neurological handicaps. A high index of suspicion for this rare disorder should be kept in mind in a chubby infant who is jittery, apathetic, and has seizures with hypoglycaemia. Medical management is required to confirm the nonketotic, hyperinsulinaemic hypoglycaemia, whereas NTP provides a long-term cure. Offprint requests to: M. Roohatgi     

Down syndrome. Clinical review of ocular features

A total of 187 medical records of Down syndrome individuals over a 10-year period were reviewed retrospectively for strabismus, myopia, hyperopia, astigmatism, nystagmus, cataract, glaucoma, and other significant eye findings. This study showed that a higher proportion of these individuals than reported in previous studies had strabismus (57%). Refractive errors of myopia (22.5%), hyperopia (20.9%) and astigmatism (22%) were common. The primary care physician needs to be aware of the specific eye problems of Down syndrome individuals so that he or she may initiate or refer the patient for appropriate ophthalmologic care, because most of the eye findings in Down syndrome are treatable. Significant visual loss, a usually avoidable event in Down syndrome, should occur rarely.