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.     

Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature

The authors report two cases of the rare concurrence of intestinal aganglionosis and Waardenburg syndrome in Japanese infants. The patients were a 1-month-old girl and a 3-month-old boy at diagnosis, and both of them had either short segment or ultra-short segment aganglionosis. A review of 48 cases in the literature showed that the extent of the aganglionic segment is quite variable, from nearly total to ultra-short. The clinical features of aganglionosis in Waardenburg syndrome would appear to bear similarity in sex ratio and the extent of aganglionosis with those of Hirschsprungs disease associated with Ondines curse, another type of neurocristopathy.     

Spinal intramedullary ependymal cyst. Report of two cases and review of the literature

Two pediatric patients (4 and 5 years of age) with spinal intramedullary ependymal cysts located at the cervical and dorsal cord are reported here. One patient was admitted with subtle signs, while the other had disabling spastic quadriparesis. In both patients, MRI depicted a well-demarcated, localized, nonenhancing intramedullary lesion isointense with CSF on T(1)- and T(2)-weighted images. Total excision of the covering membrane of the cyst was not possible in either case. The child with spastic quadriparesis had a remarkable recovery, while the subtle signs of the other patient regained normalcy at the follow-up of 4 and 5 months, respectively.     

脑性盐耗综合征与抗利尿激素异常分泌综合征的鉴别

脑性盐耗综合征和抗利尿激素异常分泌综合征在颅脑疾病相关的低钠血症中均占用一定比例.两种疾病临床表现极为相似,且易混淆,而治疗原则却大不相同.因此,正确鉴别两种疾病,对于临床患者的治疗及预后意义重大.该文从发病机制、诊断及治疗等方面对两种疾病进行鉴别.     

Hypergammaglobulinemic purpura in childhood. Report of two cases and review of the literature

Hypergammaglobulinemic purpura is a rare syndrome characterized by long-standing recurrent purpura of the lower limbs, polyclonal hypergammaglobulinemia, increased erythrocyte sedimentation rate and high titer rheumatoid factor positivity. The syndrome can occur isolated or in association with a systemic disease. Few cases have been described in childhood. We report two cases together with a review of the paediatric literature.     

Parainfluenza type 3 meningitis. Report of two cases and review of the literature

The authors present two immunocompetent children with parainfluenza type 3 meningitis. In each case, the outcome was favorable without detectable complications. The authors reviewed the literature, showing that central nervous system (CNS) involvement by parainfluenza viruses has rarely been described but may present with a variety of neurologic syndromes. Pediatricians and laboratory personnel should recognize that these viruses, commonly known to produce respiratory syndromes, can also be a cause of CNS infections. If additional studies confirm these observations, clinicians and virology laboratories may consider whether early hemadsorption testing to detect myxoviruses is warranted.     

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.     

Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature

Basal cell nevus syndrome (BCNS; Gorlin syndrome) is an autosomal dominant disorder, characterized by a predisposition to neoplasms and developmental abnormalities. BCNS is caused by mutations in the human homolog of the Drosophila patched gene-1, PTCH1 , which is mapped on chromosome 9q22.3. Nonsense, frameshift, in-frame deletions, splice-site, and missense mutations have been found in the syndrome. Haploinsufficiency of PTCH1 , which is caused by interstitial deletion of 9q22.3, is also responsible for the syndrome. To date, 19 cases with interstitial deletion of long arm of chromosome 9 involving the region of q22 have been reported. We describe two unrelated patients with some typical features of BCNS associated with deletion of 9q21.33-q31.1 and determined the boundary of the deletion by fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) clones. The results showed that the size of deletions is between 15.33 and 16.04 Mb in patient 1 and between 18.08 and 18.54 Mb in patient 2. Although the size and breakpoints were different from those of previously reported cases, the clinical features are common to patients with 9q22 deletion associated with BCNS. Delineation of the 9q22 deletions and further consideration of the genes responsible for the characteristic manifestations may provide insight into this newly recognized deletion syndrome.     

不同类型巴特综合征3例报告及文献复习

巴特综合征(Bartter syndrome,BS)是1962 年由Bartter等首先报道的一种少见的肾小管疾病。其主要临床特征为肾电解质丢失、低钾性碱中毒,伴高肾素、高醛固酮血症。不同类型BS具有不同的发病机理、临床表现和实验室特征。现将我院自 1998年来收治的3例BS结合文献总结如下。     

儿童变应性肉芽肿性血管炎2例报告并文献复习

目的 提高对变应性肉芽肿性血管炎(CSS)的认识和早期诊断与治疗水平,减少误诊、漏诊.方法 分析2例CSS患儿的临床资料(病史特点、实验室检查、组织病理检查及治疗情况).结果 2例CSS患儿均有外周血嗜酸粒细胞(EOS)增多,有哮喘病史、皮肤损害、肺浸润、副鼻窦炎,有消化道、心血管、肾脏等多脏器受累表现,骨髓像EOS比例增高,激素疗效佳.结论 CSS临床表现复杂多样,诊断困难,应引起临床医师的重视.当难治性哮喘伴皮疹、EOS增多时需考虑CSS的可能,必要时应做多系统、多部位活检.     

Tuberculous meningitis complicated with hydrocephalus and cerebral salt wasting syndrome in a three-year-old boy

Cerebral salt wasting syndrome (CSWS) is a syndrome of hyponatremia and natriuresis described in patients with intracranial diseases. We describe a 3-year-old boy with tuberculous meningitis complicated by hydrocephalus and CSWS and emphasize the different clinical presentation and management of patients with CSWS and the syndrome of inappropriate secretion of antidiuretic hormone.     

Mycoplasma pneumoniae infections and Stevens-Johnson syndrome. Report of eight cases and review of the literature

On the basis of a literature review and eight cases of our own, we analyzed 37 cases of Mycoplasma pneumoniae (MP) infection and Stevens-Johnson syndrome (SJS). Our clinical and laboratory findings do not differ from those reported in the literature for MP infection with no exanthem or for SJS of various etiologies. Eighty percent of the children presented with symptoms of upper respiratory tract infection (URTI) (cough, fever, sore throat, malaise, headache), with a mean of 10 days (range 1 to 30) before skin rash broke out. Skin manifestations occurred in 94.2% of the patients after 3 to 21 days (mean 10.3 days) of fever. The exanthem, composed predominantly of maculopapular and vesicular, was distributed chiefly on the trunk and extremities and lasted less than 14 days in 87.8% of the patients. Stomatitis was observed in 91.6% of the patients and conjunctivitis in 50%. No consistent pattern seems to emerge by which one could predict the existence of MP infection causing SJS. The complications of SJS associated with MP seem less frequent (2.7%) and much less severe than in cases where SJS arises from other reported causes. Because coincidence cannot be excluded from the assessments of the degree and rate of improvement for the few patients treated with corticosteroid, from the low frequency of complications, and from the mortality rate of zero in this series of patients, the use of corticosteroids for SJS associated with MP infection is questionable.