Vascular Malformation and Common Keratinocytic Nevus of the Soft Type: Phacomatosis Pigmentovascularis Revisited

Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type.

Cardiologia Pré-Natal. Da Suspeita à Confirmação

The mortality rate is high and prognosis is worse among new-borns with prenatal diagnosis of heart malformation, mainly due to factors such as its association with other malformations, and a range of more severe diseases probably resulting from the predominance of the obstetric use of the four chamber view. In this study we retrospectively assessed the range of cardiopathies diagnosed by foetal echocardiography and their evolution, compared with previous years. From January 1994 to December 1995, 1173 foetal echocardiograms were performed at a gestation age of 24 weeks. Sixty-one foetuses (5.2%) had cardiac anomalies, structural in 56 and arrhythmia in 5. The risks and indications were maternal in 37%, foetal in 31%, familial in 17% and environmental in 15%. Three were false negatives (VSD:2; truncus arteriosus: 1). Five died in utero, and 18 were assessed after birth with a mean gestational age of 37 weeks and birth weight of 3 Kg, a caesarean section was performed in 9. All but one were born in central hospitals. Six children were operated on. Two children died, one after surgery. Compared with the four previous years of activity, indication due to foetal risk rose from 6 to 31%, the number of cases diagnosed with heart disease increased from 14 to 30 per year, and the mortality decreased from 59 to 11%. Despite this, we still observe that the vast majority of new-borns who are hospitalised due to a severe heart disease had no prenatal diagnosis, indicating the need to continue our educational policy in this field.

Tratamento Cirúrgico dos Defeitos do Septo Auriculo-Ventricular. Experiência Uni-Institucional

OBJECTIVES: Atrio-ventricular septal (AVSD) defects include a variable spectrum of congenital malformations with different forms of clinical presentation. We report the surgical results, from a single institution, with this type of congenital cardiac malformation. Patients with hypoplasia of one of the ventricles were excluded from this analysis. POPULATION: Between November of 1998 and June of 2005, 49 patients with AVSD were operated on by the same team and in the same department. The average age was 37.3 months (medium 6 months) and 31 patients were female. In 38 patients (78%) an inter-ventricular communication was present (AVSD-complete) and of these, 26 were of the type A of Rastelli, being 13 of type B or C. The age for defect correction of the complete form was of 5.5 months, palliative surgery was not carried out on any of the patients. Associated lesions included: Down's syndrome in 22 patients (45%), patent arterial duct in 17 patients (35%), severe AV regurgitation in 4 patients (8%), tetralogy of Fallot in two (4%) and sub-aortic stenosis in one patient (2%). Pre-operatively 10 patients presented severe congestive heart failure and two were mechanically ventilated. RESULTS: Complete biventricular correction was carried out in all patients. The average time on bypass (ECC) was 74.1+/-17.5 min. and time of aortic clamping was 52.0+/-12.9 min. The complete defects were corrected by the double patch technique, and in all patients the mitral cleft was closed, except in two with single papillary muscle. There was no intra-operative mortality, but hospital mortality was 8%(4 patients), due to pulmonary hypertension crises, in the first 15 post-operative days. The mean ventilation time was of 36.5+/-93 hours (medium 7 h) and the average ICU stay was of 4.3+/-4.8 days (medium 3 days). The minimum follow-up period is 1 month and the maximum is 84 months (medium 29.5 months), during which time 4 re-operations (8%) took place: two for residual VSD's and two for mitral regurgitation. There was no mortality at re-do surgery. At follow up there was residual mitral regurgitation, mild in 17 patients and moderate in two. Four other patients presented with minor residual defects. CONCLUSIONS: The complete correction of AVSD can be carried out with acceptable results, in a varied spectrum of anatomic forms and of clinical severity. Despite the age of correction, for the complete forms, predominantly below 12 months, pulmonary hypertension was the constant cause for post operative mortality. Earlier timing of surgery and stricter peri-operative control might still improve results.

Results of Surgery for Ebstein Anomaly: a Multicenter Study from the European Congenital Heart Surgeons Association

OBJECTIVE: Since most centers' experience with Ebstein anomaly is limited, we sought to analyze the collective experience of participating institutions of the European Congenital Heart Surgeons Association with surgery for this rare malformation. METHODS: The records of all 150 patients (median age 6.4 years) who underwent surgery for Ebstein anomaly in the 13 participating Association centers between January 1992 and January 2005 were reviewed retrospectively. Patients with congenitally corrected transposition were excluded. RESULTS: Most patients (81%) had Ebstein disease type B or C and significant functional impairment (61% in New York Heart Association class III or IV) and 16% had prior operations. Surgical procedures (n = 179) included valve replacement (n = 60, 33.5%), valve repair (n = 49, 27.3%), 1(1/2) ventricle repair (n = 46, 25.6%), palliative shunt (n = 13, 7.26%), and other complex procedures (n = 11, 6.14%). There were 20 hospital deaths (operative mortality 13.3%) after valve replacement in 5 patients, valve repair in 3, 1(1/2) ventricle repair in 7, palliative procedures in 3, and miscellaneous procedures in 2. Younger age and palliative procedures were univariate risk factors for operative death, but only age was an independent predictor on multivariable analysis. CONCLUSIONS: Most patients coming to surgery presented in childhood and were significantly symptomatic. More than half underwent valve replacement or repair, but a considerable proportion had severe disease necessitating 1(1/2) ventricle repair or palliative procedures. Operative mortality did not differ significantly among repair, replacement, and 1(1/2) ventricle repair but was associated with palliative procedures for severe disease early in life, young age being the only independent predictor of operative death.

Epilepsy and Cerebral Palsy: Characteristics and Trends in Children Born in 1976 - 1998

Background: Although epilepsy is common in children with cerebral palsy (CP), no data exists on prevalence rates of CP and epilepsy. Aims: To describe epilepsy in children with CP, and to examine the association between epilepsy and neonatal characteristics, associated impairments and CP subtypes. Methods: Data on 9654 children with CP born between 1976 and 1998 and registered in 17 European registers belonging to the SCPE network (Surveillance of Cerebral Palsy in Europe)were analyzed. Results: A total of 3424 (35%) children had a history of epilepsy. Among them, seventy-two percent were on medication at time of registration. Epilepsy was more frequent in children with a dyskinetic or bilateral spastic type and with other associated impairments. The prevalence of CP with epilepsy was 0.69 (99% CI, 0.66e0.72) per 1000 live births and followed a quadratic trend with an increase from 1976 to 1983 and a decrease afterwards. Neonatal characteristics independently associated with epilepsy were the presence of a brain malformation or a syndrome, a term or moderately preterm birth compared with a very premature birth, and signs of perinatal distress including neonatal seizures, neonatal ventilation and admission to a neonatal care unit. Conclusions: The prevalence of CP with epilepsy followed a quadratic trend in 1976e1998 and mirrored that of the prevalence of CP during this period. The observed relationship between epilepsy and associated impairments was expected; however it requires longitudinal studies to be better understood.

Cat-Scratch Disease With Bone Involvemnet

Background: Bartonella henselae infection typically presents as a self-limiting regional lymphadenopathy. Bone involvement is a very rare form of the disease. Aims: To describe bone infection associated to cat-scratch disease (CSD) in a portuguese pediatric hospital. Methods: Clinical records of children admitted at the hospital with the diagnosis of CSD associated bone infection, during 2010, were reviewed. Diagnosis was confirmed by serology using indirect fluorescence assay and nucleic acid amplification from lymph node biopsy. Results: Two boys, 2 and 7 years old, were identified. One had prolonged fever and neck pain. MRI suggested D6-D9 osteomyelitis. Cultures were negative and Mycobacterium tuberculosis and Brucella infection were excluded. He was treated with gentamicin and cotrimoxazol, with clinical, but no significant image, improvement. The second child presented subacute sternoclavicular swelling and mildly enlarged axillary lymph nodes. Image studies revealed an osteolytic lesion of the clavicle and hypoechogenic splenic lesions. Histopathology of lymph node showed granulomatous adenitis and excluded malignancy. Therapy with azythromicin and rifampicin was successful. Both had contact with cats. Primary and secondary immunodeficiency was excluded. Conclusion: The optimal therapy for atypical Bartonella henselae infection is unknown and the role of antibiotics uncertain. Several combinations of antibiotics have been proposed for bone disease treatment, but recommendations are lacking. The different outcome in the presented cases could be related with the distinct therapeutic regimens used. Although atypical infection has classically been associated with immunodeficiency, this has not been the rule in bone disease and the need for extensive evaluation must be reviewed.

Neurogenic Thoracic Outlet Syndrome Associated with Cervical Rib

A true neurogenic thoracic outlet syndrome (TOS) associated with a cervical rib is considered extremely rare. The authors present their experience with 5 cases of true neurogenic TOS associated with a cervical rib. All patients were female and had a cervical rib confirmed radiographically pre-operatively. Average age was 34,8 years. Although all patients had been treated with several combinations of diverse drugs and a rehabilitation program before referral to surgery, all described their pain as intense and debilitating before surgical treatment. All patients had pre-operative electromyographic abnormalities. Patients were operated on via a supraclavicular approach and the cervical rib was resected. No intra-operative or postoperative complications were noted. Two years postoperatively, all patients mentioned improvement. However, only 2 were symptomless, and on no medication. In one patient there was significant improvement, and in the remaining 2 patients some residual pain persisted that had to be dealt with pharmacologically. All patients were able to resume their daily life activities. Recovery was poorer in the 2 patients that had been referred to surgery after a longer period of time since the beginning of symptoms.

Case for Diagnosis

A 27 year-old-man, with no known personal or familial history of disease, mentioned a 10-year history of asymptomatic groups of telangiectasias, with a Blaschko lines distribution on the right lateral aspect of the neck and asymptomatic. He denied any episodes of disease or drug intake that could be associated with the disease. Blood work had no changes, namely of liver enzymes or infectious serologies. The clinical diagnosis of Idiopathic Acquired Unilateral Nevoid Telangiectasia was made, an uncommon, benign vascular malformation. The patient declined doing a cutaneous biopsy or treatment with a cosmetic intent.

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs.

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis

We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. primary ciliary dyskinesia–associated aqueductal stenosis should be considered as a possible cause for fetal or neonatal hydrocephalus if heterotaxy, heart malformations, and/or a probable genetic etiology are present.

Health-Related Quality of Life Impact of a Triple Combination of Olmesartan Medoxomil, Amlodipine Besylate and Hydrochlorotiazide in Subjects with Hypertension

BACKGROUND: A post-hoc analysis was performed on the data from a 54 weeks phase III study (ClinicalTrials.gov identifier: NCT00923091) to measure changes in the health-related quality of life (HRQoL) of 2,690 patients aged ≥18 with moderate-to-severe hypertension who received one of six doses of olmesartan/amlodipine/hydrochlorothiazide (OLM/AML/HCTZ), using the MINICHAL and EQ-5D instruments. METHODS: Descriptive statistics were used to assess blood pressure and HRQoL scores over the study period. Analysis of covariance (ANCOVA) was used to identify those factors that could possibly have influenced HRQoL. Linear regression was used to assess the relationship between changes in blood pressure and HRQoL scores. RESULTS: Patients' baseline MINICHAL mood and somatic domains scores were 5.5 and 2.6. Over the study period HRQoL improved as both MINICHAL scores decreased by 31-33%. Patients' baseline EQ-5D index and VAS scores were 0.9 and 73.4 respectively, increasing by 6% and 12% over the study period. Patients' QALY gain over the 54 weeks study period was estimated to be 0.029 QALYs. The ANCOVA showed that changes in patients' HRQoL was likely to have been influenced by patients' achievement of blood pressure control, the amount of concomitant medication and patients' last used dosage strength of antihypertensive. Linear regression showed that blood pressure improvement may have been associated with improved HRQoL. CONCLUSIONS: This study showed that OLM/AML/HCTZ reduced blood pressure and significantly increased blood pressure control whilst improving patients' HRQoL. Achieving blood pressure control, amount of concomitant medication and dosage strength of antihypertensive impacted on patients' HRQoL.

Sequestro Pulmonar Intralobar com Malformação Cardíaca Associada

O sequestro pulmonar intralobar geralmente não está associado a outras anomalias congénitas. Apresenta-se o caso clínico de um recém-nascido com diagnóstico pré-natal de anomalia pulmonar com desvio do mediastino,a quem foi diagnosticada uma coartação da aorta ao quinto dia de vida. A tomografia computorizada torácica revelou uma massa sólida na região basal posterior do lobo inferior esquerdo, sugerindo poder corresponder a um sequestro pulmonar intralobar. Foi submetido a cirurgia de correção da coartação da aorta e de ressecção do segmento correspondente de sequestro pulmonar.O exame anatomopatológico confirmou o diagnóstico de sequestro pulmonar intralobar. À data da redação deste trabalho, a criança tinha quatro anos de idade e estava clinicamente bem. O caso ilustra a associação de sequestro pulmonar intralobar a uma malformação cardíaca.

Congenital Complete Atrioventricular Block. Case Report and Review of the Literature

Introduction: Congenital complete atrioventricular block (AVB) without cardiac malformation is a rare and potentially fatal condition. In most cases it is associated with maternal systemic lupus erythematosus through transplacental passage of antibodies anti-SSA/Ro and/or anti-SSB/La. Antenatal fluorinated-steroids have been successful in reversing first and second degree congenital AVB but inconsistent in third degree block. Case Report:The authors report a case of fetal bradycardia diagnosed at 24 weeks of gestation. The fetal echocardiogram revealed a second/third degree AVB without structural heart disease. Maternal anti-SSA/Ro antibodies were detected. There was no blockage improvement with maternal oral fluorinated-steroids. An elective cesarean section was performed at term with the delivery of a healthy girl that required an epicardical pacemaker on the 8th day of life. Conclusion: In this case, treatment with maternal fluorinated corticosteroids was not effective in preventing progression of the heart block.