Spondylothoracic dysplasia with diaphragmatic defect: a case report with literature review.

Spondylothoracic dysplasia (Jarcho-Levin syndrome) is a syndrome of unknown etiology. We describe a new case with diaphragmatic eventration. Literature review for cases of Jarcho-Levin syndrome with diaphragmatic defects, which were six cases, revealed that renal affection increased when diaphragmatic defects associate the syndrome with pulmonary hypoplasia. Thus, the subgroup of spondylothoracic dysplasia with diaphragmatic defect is a more severe subgroup of the syndrome rather than the other forms of this syndrome. Relating the described anomalies in this case and that of the literature cases to the known embryological basis may point to a pivotal developmental link between lung, kidney and diaphragm, possibly the posterior mesenchyme.     

37例儿童IgA肾病临床与病理分析

为了探讨IgA肾病的临床与病理改变的关系,对37例IgA肾病进行临床分型并与肾小球、肾小管间质改变及免疫病理特点的关系进行比较。结果：临床分型中单纯血尿（血尿）18例占49%,肾百闻不如一见 综合征（肾病）14例占38%,血尿和蛋白尿3例占8%,肾炎综合征（肾炎）2例占5％,肾小球病理损害以Ⅲ级为主占厮４％,临床各型与肾小球病理损害无相关性。肾小管间质改变２４例,血尿组７例占３９％,其中Ｉ级为４３％,Ⅱ级为５７％,肾病组均有改变,其中Ⅱ级１１例占７８％,Ⅲ级３例占２２％,血尿和蛋白尿组2例占66%,肾炎组1例占50%,免疫病理改变为IgA16例,IgAG6例,IgAM10例,IgAGM5例,血尿组以单纯IgA沉积为主占66%,肾病组则以IgAM型为主占50%,提示IgA肾病临床以单纯血尿为主,其次为肾病综合征;肾小球病理损害程度与临床分型无相关性,但肾病组肾小管间质均有改变且程度也较血尿组为重。免疫病理血尿组以单纯IgA为主,而肾病组以IaAM为主。     

Neonatal Sweet syndrome: a potential marker of serious systemic illness

Sweet syndrome is an inflammatory disease characterized by fever and painful erythematous plaques with a dermal neutrophilic infiltrate. It is most common in adults, where it is often parainflammatory or paraneoplastic, but is rare in children. We describe 3 cases of neonatal Sweet syndrome, including 1 patient who had myelodysplastic syndrome and immunodeficiency, the first report of a premalignancy underlying infantile Sweet syndrome. We reviewed the literature on patients presenting with neutrophilic dermatosis in the first 6 months of life. Of 20 cases, 6 had a probable viral etiology, 4 primary immunodeficiencies, 3 neonatal lupus syndrome, 1 gastrointestinal involvement, 1 HIV, and 5 probable genetic cases. Three of these had chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, caused by mutations in the PSMB8 gene. Most children who presented within the first 6 weeks of life had either a serious underlying condition, such as primary immunodeficiency, or a genetic Sweet syndrome, with 2 fatalities among this latter group. The outcome of postinfective cases was good. Extracutaneous involvement was unusual, whereas postinflammatory scarring and cutis laxa occurred in a minority of patients. In conclusion, Sweet syndrome in the neonatal period often heralds a serious underlying disorder and requires thorough investigation.     

Idiopathic hypothalamic syndrome: retrospective study and literature review]

Hypothalamic obesity is usually induced by tumoral or genetic alterations such as craniopharyngioma or Prader-Willi syndrome, respectively. However, few cases have been reported without recognized etiology, this syndrome is also called idiopathic hypothalamic syndrome. OBJECTIVES: To improve definition and frequency of complications associated with this syndrome. POPULATION AND METHODS: A retrospective cohort study was performed in French endocrine paediatric departments and was associated with a literature review. RESULTS: We report five cases of idiopathic hypothalamic syndrome. This syndrome is correlated with a high mortality (one of our five cases, 25% in the literature) by neurovegetative dysfunction (breathing or thermal alteration). Obesity began before six years old because of compulsive eating and resulted in social behaviour disorders. Abnormal endocrine secretions were characterized by early hyperprolactinemia, permanent but later somatotrope deficiency and 80% of thyreotrope deficiency. Puberty abnormalities included hypogonadotropic hypogonadism as well as precocious (one of our cases, three cases including literature) or normal puberty. Neurogenic hypernatremia and water and electrolytic disorders were also responsible of acute neurological alterations. CONCLUSION: This largest study ever reported of idiopathic hypothalamic syndrome emphasizes the need of a multidisciplinary coordination to provide the best care of these patients.     

Difficulties in diagnosis of frontal syndrome in epileptic children: clinical, diagnostic, physiopathological aspects. Apropos of 6 cases]

The authors report 6 cases of acute frontal syndrome following severe seizures of frontal origin. The study of the 6 cases shows the place of disorders in affectivity, behavior, judgement and motor activity; such features changing over time. The relationship between the frontal syndrome and epilepsy is suggested by the fact that the frontal syndrome appears after an increased frequency of frontal seizures, with prolonged discharges of generalized or frontal spikes. The frontal syndrome disappears slowly with the epileptic discharges, and no frontal lesion is found on CT-Scan. Such cases suggest that the frontal syndrome is functional, linked to the localization of the epileptic discharges; it may be regarded as a post-critic deficit, and must be differentiated from a post-critic delirium or a psychotic state.     

Hypertrophic cardiomyopathy in Noonan syndrome

Noonan syndrome, a well-known multiple congenital anomalies syndrome, is frequently accompanied by cardiovascular diseases including hypertrophic cardiomyopathy (HCM). The incidence of HCM in Noonan syndrome is approximately 20–30% and one-third of cases reveal ventricular outflow obstruction. HCM in Noonan syndrome is occasionally associated with a congenital heart defect, whereas classic HCM seldom accompanies cardiac malformations. Asymmetric septal hypertrophy and symmetric septal hypertrophy (concentric hypertrophy) can be observed both in HCM with Noonan syndrome and in classic HCM. but apical hypertrophy has not been reported in Noonan syndrome yet, although it appears in classic HCM. Congestive heart failure is the major cause of death in patients with HCM in Noonan syndrome, but cases of sudden death have also been reported. The histopathologic findings of ventricular myocardial tissue in HCM with Noonan syndrome are similar to those in classic HCM.     

Cerebral abnormalities in the oral-facial-digital syndrome

This is a report of three cases of the oral-facial-digital (OFD) syndrome with accompanying severe cerebral abnormalities. Among 150 reported cases of this syndrome, 16 had accompanying documented cerebral anomalies including porencephalic cysts, agenesis of the corpus callosum, and cortical hypoplasia. Although mental retardation is a prominent feature of this syndrome, neuroradiologic workup is infrequent. In view of the frequency of associated cerebral abnormalities (13%) of OFD syndrome, neuroradiologic evaluation is valuable as a guide to prognosis and therapy for these children.     

Recessive type of Freeman-Sheldon syndrome - report of two affected siblings

OBJECTIVE: To share knowledge and information about the peculiarities of the Freeman-Sheldon syndrome, especially concerning the high risk of recurrence of its recessive type in siblings, and to stress the importance of genetic counseling for families after the birth of an affected child. DESCRIPTION: The authors describe and comment two pediatric cases of the Freeman-Sheldon syndrome in siblings born to healthy parents. These two cases present significant peculiarities that contradict the findings of the medical literature, obtained through bibliographic research about the subject. The cases described here corroborate the existence of a recessive type of the Freeman-Sheldon syndrome. In spite of the fact that some authors suggest a high frequency of severe neurological impairment in this type of syndrome, the two cases we analyzed did not show any apparent manifestation of such sequelae. COMMENTS: The Freeman-Sheldon syndrome is heterogeneous not only in its clinical presentation but also in its genetic transmission. It is very important to be informed about the existence of more than one form of hereditary transmission of this syndrome, since genetic counseling should take into consideration all possibilities. In these cases, the use of empiric risks of recurrence would be justified.     

A catch in the Reye

Twenty-six cases of Reye syndrome from The Children's Hospital, Camperdown, Australia, occurring between 1973 and 1982 were reviewed. Of these, 20 cases met the US Public Health Service Centers for Disease Control criteria for the diagnosis of Reye syndrome. Aspirin or salicylate ingestion had occurred in only one of the 20 cases (5%), and paracetamol (acetaminophen) had been administered in only six of the cases (30%). Pathologic confirmation of the diagnosis of Reye syndrome was accomplished in 90% of the cases. The incidence of Reye syndrome in New South Wales, Australia, is estimated from this study to be approximately nine cases per 1 million children compared with recent US data of ten to 20 cases per 1 million children and three to seven cases per 1 million children in Great Britain. The mortality for these Reye syndrome cases in Australia was 45% as compared with a 32% case-fatality rate in the United States. In Australia, the pediatric usage of aspirin has been extremely low for the past 25 years (less than 1% of total dosage units sold), with paracetamol (acetaminophen) dominating the pediatric analgesic and antipyretic market. Reye syndrome may be disappearing from Australia despite a total lack of association with salicylates or aspirin ingestion, since there were no cases found at The Children's Hospital in 1983, 1984, or 1985.     

Development of acute lymphoblastic leukemia following treatment for acute myeloid leukemia in children with Down syndrome: A case report and retrospective review of Children's Oncology Group acute myeloid leukemia trials

Children with Down syndrome have a 150‐fold increased risk of developing acute myeloid leukemia (AML) and 20‐fold increased risk of developing acute lymphoblastic leukemia (ALL). Although the risk of developing AML and ALL is significantly increased in children with Down syndrome, the development of both malignancies in the same patient is very rare. We describe a patient with Down syndrome who developed ALL 6 years after being diagnosed with AML. We performed a literature review and Children's Oncology Group query and discovered eight published cases and five cases of ALL following AML in pediatric patients with Down syndrome, as well as six cases of ALL following AML in non‐Down syndrome patients. There was a similar cumulative incidence of ALL after treatment for AML in the Down syndrome and non‐Down syndrome populations. Overall survival in patients with Down syndrome who developed ALL after treatment for AML was comparable to overall survival for patients with Down syndrome with de novo ALL with an average follow‐up of 7 years after ALL diagnosis. Clinical data collected were used to discuss whether this phenomenon represents a secondary leukemia, second primary cancer, or mixed‐lineage leukemia.     

McCune-Albright综合征

McCune-Albright综合征是一种少见的G蛋白病,临床以性早熟、多发性骨纤维异常增殖症及皮肤斑片状色素沉着为最常见的症状,病因是在胚胎形成过程中的鸟嘌呤核苷酸结合蛋白(G蛋白)α亚基(Gsα)基因的突变,导致刺激cAMP产生可激活许多内分泌激素的受体。治疗主要是对症治疗,尚无有效根治方法。该文报道3例该病病例,并复习了相关文献。这3例病例均出现多发性骨纤维异常增殖症、性早熟及咖啡色色素斑典型的三联征而确诊。     

The radiological diagnosis of the fetal-face (= Robinow) syndrome (mesomelic dwarfism and small genitalia). Report of 3 cases.

Report of 3 cases with Robinow syndrome. Analysis of the X-ray findings, including the formerly reported cases. On radiological grounds, the diagnosis of the Robinow syndrome is possible by the combined observation of mesomelic shortening of the extremities, hemivertebra formation and fusion anomalies of spine and of the ribs. The "splitting" of terminal (bifid) phalanges and toes is a facultative, but highly diagnostic radiological sign. In 2 cases, the pattern profiles were of considerable similarity. The practical importance of the correct diagnosis in this syndrome is emphasized.     

Aflatoxin B1; its role in the etiology of Reye's syndrome.

Seven cases of Reye's syndrome in which aflatoxin B1 was isolated from the blood or liver or both are presented. In two cases aflatoxin B1 was found in the blood during the acute phase of the disease; a finding not previously reported. In six cases aflatoxin B1 was recovered from autopsy specimens of liver. A number of case reports linking aflatoxin B1 to Reye's syndrome have appeared in the literature but until now only one case had been reported from the United States. Aflatoxin B1 and its possible role in the etiology of Reye's syndrome is discussed. It is concluded that Reye's syndrome is the result of multiple interrelated factors.     

Reyes’s syndrome in Delhi

Reye’s syndrome was diagnosed in about 15% of cases of encephalopathy syndrome admitted in hospital. Hypoglycemia, considered a hallmark of the disease, was an uncommon observation particularly in patients beyond one year of age (8.5%). Transaminases were more useful than hypoglycemia for suspecting this syndrome (raised in 80% of cases). Progression of the disease was very rapid. The existing management is very unsatisfactory. 11 out of 12 cases died. A high order of suspicion in a patient who presents with vomiting, hepatomegaly and sensorial obtundation is proposed for early diagnosis.     

Joubert's syndrome

We report a new case of pathologically documented Joubert syndrome. A review of 35 published cases showed that this syndrome, first described by Joubert and Eisenring in 1969, is well individualized and exhibits consistent features, including attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor retardation, and ataxia. Anatomic anomalies include vermian agenesis with cystic dilatation of the fourth ventricle. Inheritance of this condition is autosomal and recessive. Onset is in the neonatal period and prognosis is severe. Significant anatomic resemblances with the Dandy-Walker syndrome exist, although genetic and clinical features are different. The origin of this syndrome is unknown, but a study of peroxisomes is required since three cases of Joubert syndrome with pipecolic acidemia have been reported and resemblances exist between some recognized peroxisomal diseases and Joubert syndrome.     

Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research

In this review, our work on CHARGE syndrome will be used to exemplify the role of rare cases in birth defects research. The analysis of 29 cases with mutations of CHD7, the causative gene for CHARGE syndrome, clarified the relative importance of the cardinal features, including facial nerve palsy and facial asymmetry. Concurrently, in situ hybridization using chick embryos studies were performed to delineate the expression pattern of Chd7. The Chd7-positive regions in the chick embryos and the anatomical defects commonly seen in patients with CHARGE syndrome were well correlated: expression in the optic placode corresponded with defects such as coloboma, neural tube with mental retardation, and otic placode with ear abnormalities. The correlation between expression in the branchial arches and nasal placode with the clinical symptoms of CHARGE syndrome, however, became apparent when we encountered two unique CHARGE syndrome patients: one with a DiGeorge syndrome phenotype and the other with a Kallman syndrome phenotype. A unifying hypothesis that could explain both the DiGeorge syndrome phenotype and the Kallman syndrome phenotype in patients with CHARGE syndrome may be that the mutation in CHD7 is likely to exert its effect in the common branch of the two pathways of neural crest cells. As exemplified in CHARGE syndrome research, rare cases play a critical role in deciphering the mechanisms of human development. Close collaboration among animal researchers, epidemiologists and clinicians hopefully will enhance and maximize the scientific value of rare cases.     

Fraser-Cryptophthalmos syndrome

Fraser or Cryptophthalmos syndrome is a variable syndrome to the extent that cryptophthalmos might not be present in all cases. However, the main features are a “hidden eye”, other craniofacial abnormalities, renal abnormalities, syndactyly and abnormal genitalia. It may be classified as isolated cryptophthalmos or cryptophthalmos sequence and cryptophthalmos syndrome. The cryptophthalmos syndrome has an autosomal recessive mode of inheritance. Isolated cryptophthalmos has been reported as an autosomal dominant trait. Prenatal diagnosis is possible using ultrasonography and fetoscopy. We report three cases of cryptophthalmos. One with renal agenesis had cryptophthalmos syndrome and the other two had isolated cryptophthalmos or cryptophthalmos sequence.     

Oligomeganephronia Associated with 4p Deletion Type Chromosomal Anomaly

Oligomeganephronia is a rare congenital renal hypoplasia that is characterized histologically by a reduction in the number of reniculi with compensatory hypertrophy of the glomeruli and proximal renal tubules. Oligomeganephronia has generally been regarded as a congenital but not genetic disease. Kusuyama et al. first suggested that oligomeganephronia might be associated with a chromosomal anomaly, namely 4p monosomy syndrome. Their assumption originated from the fact that external anomalies of their cases of oligomeganephronia are very much like those described in 4p monosomy syndrome. We have experienced two autopsy cases of oligomeganephronia associated with multiple congenital anomalies that are seen in 4p deletion syndrome. Chromosome studies performed in both cases revealed 4p deletion and 4p ring, respectively. There were remarkable similarities between these cases. We suggest that there are two types of oligomeganephronia; one is a solitary sporadic type with no associated anomaly, and the other is a syndromic type that is a part of a complex anomaly of 4p deletion syndrome and possibly other related chromosomal deletion syndromes.     

Bilateral Ulnar Agenesis: Case Report and Review of the Literature

Bilateral ulnar agenesis is a rare abnormality. A total of 36 cases are analyzed: 35 of these are documented in the literature and 1 stillborn male is presented in this study. Most patients had one of the three conditions: Al-Awadi/Raas-Rothschild syndrome, syndrome of ulnar aplasia with split hand/split foot deformity, or the Brachmann—de Lange syndrome. Fifty percent of all cases with bilateral ulnar agenesis were associated with lower limb defects and these cases, for the most part, also belonged to the aforementioned syndromes. Nonskeletal, internal organ malformations were identified in 34% of all patients. Nine patients presented with isolated bilateral ulnar agenesis. The Al-Awadi/Raas-Rothschild syndrome and the split hand/split foot deformity are heritable disorders. There was no evidence for genetic etiology in most of the other cases. Bilateral ulnar agenesis in our fetus was part of the Brachmann—de Lange syndrome with associated cardiac defect, diaphragmatic hernia, and umbilical artery agenesis.     

Mayer-Rokitansky-Kuster-Hauser syndrome: associated pathologies]

MRKH syndrome (Mullerian structures agenesis in woman) is often associated with other anomalies: kidney and bone anomalies, deafness, ovarian tumors. Functional ovarian anomalies have not been previously reported. CASE REPORTS: Five new cases of MRKH syndrome are reported. They were associated with deafness in two cases, with kidney anomaly in three cases, vertebral anomalies in one case, and four suffered from obesity and ovarian dysfunction (ovarian polycystics syndrome, advanced puberty, androgenic excess). All of them had ovarian ectopy, which was responsible for false ultrasonographic diagnosis. CONCLUSION: An MRKH syndrome diagnosis implicates a search for other anomalies. Ovarian functional trouble should not let MRKH syndrome remain unrecognized.