Gianotti-Crosti syndrome. HBsAG-negative papular acrodermatitis, an infantile papulovesicular acrolocalized syndrome

We report three cases of the Gianotti-Crosti syndrome (papulovesicular-acro-located syndrome of childhood), a self-limited common disease of childhood, which may be caused by various viral infections. The hepatitis B virus, however, is excluded by definition as a causal agent. The syndrome is characterized by itching papulo-vesicular skin lesions measuring 1-5 mm in diameter and localized to the limbs and face. The clinical and terminological differences between the HBsAG negative Gianotti-Crosti syndrome and the HBsAG positive Gianotti disease are emphasized.     

Disease, syndrome, sequence

A brief review is given of the historical and modern use of the terms "disease," "syndrome," and "symptom complex." In the old use, notably the Greek school of empirics, phenotype and disease were thought to be almost synonymous; then Thomas Sydenham added etiology and pathogenesis as defining criteria. Today the terms "disease," "syndrome," and "symptom complex" are used to signal varying degrees of medical knowledge and thus direct medical activity. In accordance with modern trends, a "disease" is understood as an etiologically und pathogenetically defined entity, a "syndrome" as an etiologically defined entity of unknown pathogenesis, and a "sequence" as an etiologically heterogeneous but pathogenetically defined disorder. None of these terms should be used for "symptom complexes," i.e., for causally undefined or heterogeneous phenotypes.     

Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist

Abstract Three unusual dental anomalies are presented which should be of interest to the pediatric radiologist: otodental syndrome – an autosomal dominant syndrome of bizarre, greatly enlarged teeth with bulbous crowns (globodontia) that spares the incisors, in combination with sensorineural hearing loss; oculo-facio-cardio-dental syndrome – an X-linked dominant syndrome that is lethal in males, characterized by congenital cataracts, unusual facies, atrial septal defect (ASD), ventricular septal defect (VSD), and canine teeth that cease to grow only when they cut off their own blood supply by growing through the orbit and lower border of mandible; and lobodontia – a dominant disorder characterized by teeth whose crowns resemble those of a wolf. Received/accepted: 6 May 1998     

Pathogenesis, treatment, and therapeutic trials in hemolytic uremic syndrome

Diarrhea-associated hemolytic uremic syndrome is one of the most common causes of acute renal failure in childhood. Nearly all cases are the result of an antecedent infection by Shiga toxin--producing strains of Escherichia coli, especially the O157:H7 serotype. Most cases occur after ingestion of contaminated meat; however, new food sources such as leaf lettuce, alfalfa sprouts, and goat's milk have been identified, and diarrhea-associated hemolytic uremic syndrome can occur after exposure to contaminated water in recreational swimming sites. Diarrhea-associated hemolytic uremic syndrome is a systemic disease with activation of a variety of inflammatory cytokines. Kidney injury may result from direct effects of the Shiga toxin on renal tubular epithelial cells as well as endothelial cells. Early diagnosis of diarrhea-associated hemolytic uremic syndrome may be expedited by the introduction of new techniques to rapidly detect toxin and microorganism in stool samples. Optimal therapy of diarrhea-associated hemolytic uremic syndrome includes intensive management of the renal failure and serious extrarenal complications that may occur during the course of disease. The role of antibiotics in prevention and amelioration of diarrhea-associated hemolytic uremic syndrome remains controversial. Experimental therapies that are undergoing evaluation in clinical trials include SYNSORB Pk (SYNSORB Biotech, Inc., Calgary, Alberta, Canada), a drug designed to bind Shiga toxin in the lumen of gastrointestinal tract. Immunization strategies are also being developed and tested. It is hoped that with continued progress in this field the incidence of diarrhea-associated hemolytic uremic syndrome in children will be substantially reduced in the coming years.     

Guillain-Barré syndrome and chickenpox, a case

The authors report one case of Guillain-Barré syndrome which occurred on the 8th day of chicken-pox eruption in a 2.5 year-old non-immunodepressed child and which completely receded. The Guillain-Barré syndrome is an exceptional neurological complication of chicken pox. The course of the polyradiculonevritic syndrome is not influenced by the infection and its prognosis is usually good.     

Short rib-polydactyly syndrome type I,Saldino-Noonan

A case of the Saldino-Noonan type of short rib-polydactyly syndrome is reported. Although multiple internal malformations have been described in this syndrome, no significant visceral abnormalities were detected in this case except for the hypoplastic lungs. A similar case was reported by Spranger et al. in 1974.     

Bronze baby syndrome,biliary hypoplasia,incomplete Beckwith-Wiedemann syndrome and partial trisomy 11

A premature infant with duplication of material from chromosome 11 and some features of the Beckwith-Wiedemann syndrome developed the bronze baby syndrome when exposed to phototherapy. He subsequently developed hepatocellular dysfunction and died aged 5 weeks. Post mortem examination revealed striking hypoplasia of intralobular bile ducts but little inflammatory change or necrosis in the liver.     

Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema

A 4 1/2-year-old boy with macrocephaly, pseudopapilledema, lipoangiomatosis, macropenia, and spotted pigmentations of the glans is reported. Lipoid masses were found in the subcutaneous tissue, tonsils, and probably the left lung. Some of these findings are consistent with features already reported by Riley and Smith, later by Bannayan, and recently by Ruvalcaba et al. We propose to unify the features of this syndrome and name it macrocephaly, hamartomas, and papilledema syndrome. The inheritance in our described case seems to be autosomal dominant.     

49, XXXXY syndrome: an Italian child

The 49, XXXXY syndrome is a rare sex chromosome polysomy, first described by Fraccaro and colleagues in 1960. The approximate incidence of this disorder is 1 in 85,000 male births. To date, >100 cases had been published in the literature. Patients with 49, XXXXY syndrome show some peculiar clinical features, such as mental retardation, facial dysmorphism, ambiguous genitalia, and multiple skeletal and cardiac defects. We report a new case of 49, XXXXY syndrome; the first Italian case to our knowledge.     

Rectal self-mutilation, rectal bleeding and Prader-Willi syndrome]

Prader-Willi syndrome is a genetic disorder characterized by infantile hypotonia, obesity, hypogonadism and mental retardation. Individuals with Prader-Willi syndrome manifest a severe skin picking behavior, including rectal picking. CASE REPORT: We report the case of a girl (12 years old) with this syndrome in whom rectal picking resulted in rectal bleeding and solitary rectal ulcer. CONCLUSION: Caregivers of children with Prader-Willi syndrome should be aware of a potential rectal picking behavior, which results in significant bleeding. Early recognition of such a behavior helps to avoid misdiagnosis.     

Scimitar syndrome: incidence,treatment, and prognosis

This study is based on a database of 16 years; we sought to define the incidence and outcome of scimitar syndrome. Of 8,771 patients, 5 (0.057%) with scimitar syndrome were identified and constituted the study population. Follow-up ranged from 1 to 16 years (median: 10 years). Diagnosis was assured by computed tomography in four patients and by cardiac catheterization in one. Two patients presented with respiratory distress soon after birth and required early pneumonectomy in one case and coil embolization of the abnormal feeding arteries to the right lower lung followed by surgical rerouting of the abnormal pulmonary vein and repair of the atrial septal defect in the other case. The former was supported by ventilator therapy for 3 years after pneumonectomy, but was finally weaned from the ventilator. Among the other three, two had repeated pneumonia that resolved after rerouting of the abnormal right pulmonary vein and cardiac repair. The asymptomatic child did not receive any intervention. In spite of the abnormal orientation of the airways, none of the four patients with detailed computed tomography imaging showed any significant compression of the airways. All five patients were doing well as of the last follow-up. In conclusion, scimitar syndrome is a very rare disease in this Asian country and the varied symptoms, such as tachypnea and repeated infection, could be improved after interventions.     

HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis

HDR syndrome is a newly recognized very rare syndrome defined by the combination of hypoparathyroidism, renal dysplasia and sensorineural deafness. Haplo-insufficiency of the GATA3 gene is the underlying mechanism of the HDR syndrome. Here we report a 16 year-old girl with HDR syndrome who presented with generalized psoriasis, which is an unusual presentation. Skin lesions rapidly disappeared after replacement therapy with calcium. It is suggested that generalized psoriasis might have been induced by hypocalcemia due to hypoparathyroidism associated with HDR syndrome.     

Genetic heterogeneity of the ichthyosis,hypogonadism, mental retardation,and epilepsy syndrome

Major diagnostic criteria for the Rud syndrome are ichthyosis, hypogonadism, mental retardation, and epilepsy. Two unrelated patients are presented and compared with 28 reported cases. Genetical heterogeneity of the Rud syndrome is suggested by differences in clinical features, histological and endocrinological findings, steroid sulfatase activity, and modes of inheritance.     

Zellweger's syndrome (cerebro-hepato-renal syndrome)--its clinical picture, morphology and biochemical diagnosis

The cerebro-hepato-renal (Zellweger) syndrome is characterised by dysmorphic features, severe muscular hypotonia, hepatic dysfunction and early death in infancy. Recently it has been shown that the disease is an inborn error of metabolism with an unusual variety of metabolic disturbances affecting pipecolic acid, bile acids, plasmalogens and very long chain fatty acids. Ultrastructural and biochemical findings confirming the diagnosis are illustrated. The syndrome is inherited as an autosomal recessive trait, prenatal diagnosis has become possible.     

De Barsy syndrome—an autosomal recessive,progeroid syndrome

We report two families with seven siblings with de Barsy syndrome. Characteristic features include severe mental retardation, hypermobility with athetoid movements, grimacing, muscular hypotonia, laxity of small joints and brisk deep tendon reflexes, progeroid aspect with cutis laxa, atrophy of skin with hyperpigmentation, isolated depigmentations, reduction of subcutaneous fatty tissue, translucent vein pattern, short stature, frontal bossing in the young child, large prominent ears with dysplastic helices and corneal coulding or cataracts. The syndrome probably has autosomal recessive inheritance.Dedicated to Prof. H.-R. Wiedemann on the occasion of his 70th birthday     

Mental retardation, macrostomia and hyperpnoea syndrome

Abstract A syndrome with the triad of abnormalities of mental retardation, wide mouth and intermittent overbreathing is described, which has all the features of the syndrome previously described by Pitt and Hopkins.¹ Pitt and Hopkins published two cases that bear close resemblance to each other, each having an abnormal respiratory rhythm. Both had an unusually wide mouth and palate, thick fleshy lips, broad-beaked nose, finger clubbing and abnormal electroencephalograms. This paper discusses a client living in a hostel for intellectually handicapped people who has all these features.     

Treatment with metyrapone of Cushing's syndrome revealing McCune-Albright syndrome]

Cushing's syndrome reveals McCune-Albright syndrome in a minority of patients. Bilateral adrenalectomy is performed on the majority of cases. CASE REPORT: We present a case of McCune-Albright syndrome revealed by a Cushing's syndrome treated by metyrapone. Results were good, after a 4-year follow up. CONCLUSION: Treatment with metyrapone could be recommended, for some patients, in McCune-Albright syndrome with Cushing's syndrome before chirurgical treatment.     

Retinitis pigmentosa, terminal renal insufficiency and Caroli syndrome: new associations with Opitz trigonocephaly syndrome

We report on a new patient with Opitz trigonocephaly syndrome. In addition to the findings typical of this mental retardation syndrome, the present patient has retinitis pigmentosa, Caroli's syndrome and renal failure, which is undergoing hemodialysis. This association is never observed before in patients with Opitz trigonocephaly syndrome. This case demonstrate, that with increased survival of patients with mental retardation syndromes, the phenotypes possible are modified.     

Aortic dilation, dissection, and rupture in patients with Turner syndrome

We report two patients with Turner syndrome who had aortic dissection and rupture, one with prior repair of coarctation. We also note the high incidence (8.8%) of unrecognized aortic root dilation in a group of 57 patients with Turner syndrome whom we prospectively evaluated by echocardiography. Our analysis and review of previously reported cases suggests that multiple risk factors may exist for aortic dissection, including coarctation, bicuspid aortic valve, and systemic hypertension, but that these need not be present. Aortic root dilation may be an additional finding that suggests the patient with Turner syndrome is also at risk. When it is present, magnetic resonance imaging visualizes the entire aorta and allows quantification of the site and degree of dilation. In patients with dissection, the aorta often exhibits pathologic evidence of cystic medial necrosis similar to the finding in patients with Marfan syndrome. Therapeutic methods to decrease risk, such as those directed toward prevention of bacterial endocarditis, blood pressure control, and perhaps prophylactic beta blockade or surgical reconstruction, may need to be considered. Patients with Turner syndrome, their families, and the physicians who care for them should be aware of the significance of unexplained chest pain, dyspnea, or hypotension as potential manifestations of aortic dissection or rupture.     

Fetal alcohol syndrome: diagnosis, epidemiology, and developmental outcomes

In Australia the issue of fetal alcohol syndrome (FAS) has not been the subject of policy development or of extensive research. There is a lack of knowledge, both in the general community and by health professionals, of the nature of the risks associated with heavy alcohol consumption during pregnancy and the factors that increase this risk. This paper reviews the literature surrounding FAS with the aim of providing the reader an understanding of the diagnostic features and epidemiology of FAS and of the developmental sequelae associated with this syndrome.