Skeletal complications in mucopolysaccharidosis VI patients: Case reports.

Mucopolysaccharidosis (MPS) VI is an inheritable lysosomal storage disorder that is often associated with severe orthopedic problems such as hip dysplasia, spinal deformities, and deformities in the skull, knees and hands. We describe the progression and management of three MPS VI cases with focus on their orthopedic problems.

Foreign bodies in the airway: a quarter of a century's experience.

Introduction: Foreign body (FB) aspiration in children is a common and potentially dangerous situation that can be associated to significant morbidity.

Aims: To characterise the FB aspiration in children cases at the Hospital Pediátrico de Coimbra over a twenty five year period.

Study Design: This study was based on the retrospective analysis of all clinical files of children who were diagnosed with foreign body aspiration January 1982 to December 2006.

Transposition of the great arteries.

Transposition of the great arteries (TGA), also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance and ventriculoarterial (VA) discordance. The incidence is estimated at 1 in 3,500-5,000 live births, with a male-to-female ratio 1.5 to 3.

Alternaria infectoria brain abscess in a child with chronic granulomatous disease.

In the present report, we describe the first case of a phaeohyphomycotic brain abscess in a 5-year-old boy with chronic granulomatous disease (CGD) admitted to hospital with seizures. A computed tomography (CT) scan revealed a cerebral abscess and the microbiology study showed a dark, melanin-pigmented fungus, exhibiting only sterile hyphae. This fungus was identified by the amplification and sequencing of the 5.

Innocent heart murmurs.

Innocent heart murmur is a frequent auscultatory finding in children. The diagnosis is essentially clinical, without need for further investigation. However, excluding heart disease can be a difficult task.

Neutropenia in antibody-deficient patients under IVIG replacement therapy.

Patients with antibody deficiencies are more prone to develop acute neutropenic episodes even during immunoglobulin replacement. The aims of this study were to evaluate the presence of acute neutropenia in 42 patients with primary antibody immunodeficiencies, currently receiving intravenous immunoglobulin (IVIG), and to describe the clinical and laboratory findings during neutropenic episodes. Of all patients, 10 (23.

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy type 1C, and congenital muscular dystrophy type 1D are overlapping clinical entities belonging to a subgroup of the congenital muscular dystrophies (CMD), collectively designated dystroglycanopathies, in which the common underlying defect is hypoglycosylation of alfa-dystroglycan. Currently, six different genes are known to be implicated in these diseases: POMT1, POMT2, POMGNT1, FCMD, FKRP, and LARGE. We report the molecular characterization of a patient presenting clinical features of CMD and reduced immunostaining for alfa-dystroglycan in muscle.

Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions.

The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332,808 school-aged children in the mainland and 10,910 in the Azores islands. Referred children were directly assessed using the Diagnostic and Statistical Manual of Mental Disorders (4th edn), the Autism Diagnostic Interview-Revised, and the Childhood Autism Rating Scale.

Epidemiology of rotavirus in Portugal: G9 as a major cause of diarrhoea in non-hospitalised children.

Background: Rotavirus is a major cause of gastroenteritis in children worldwide, but there is no data available on the incidence of rotavirus gastroenteritis or on the strains circulating in Portugal.

Methods: We determined prospectively the incidence of rotavirus infection in non-hospitalised children and the genotypes circulating during one winter season in the central region of Portugal.

Results: Rotavirus was found in 45% of the samples tested.

Outcome of three cases of untreated maternal glutaric aciduria type I.

We report, for the first time, the outcome of three children born to two women with untreated glutaric aciduria type I (GA I). Isolated hypocarnitinemia in neonatal screening in one baby allowed the identification of the disease in his mother, who was undiagnosed so far and had had a previous daughter. The other baby was born to an already diagnosed mother who was not treated; newborn screening in the child reflected the metabolic state of the mother.

An explanation for another familial case of Rett syndrome: maternal germline mosaicism.

Rett syndrome (RTT; OMIM#312750) is a severe neurodevelopmental disorder that affects mainly girls. It has an estimated incidence of 1:10,000-15,000 females. Mutations in the X-linked gene methyl CpG-binding protein 2 (MECP2) have been found in most patients.

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterised by chorea, cognitive impairment, dementia and personality changes, caused by the expansion of a CAG repeat in the HD gene. Often, patients with a similar clinical presentation do not carry expansions of the CAG repeat in this gene [Huntington disease-like (HDL) patients]. We report the genetic analysis of 107 Portuguese patients with an HDL phenotype.

Renal amyloidosis: an uncommon complication of juvenile idiopathic arthritis.

A 9-year-old girl presented with systemic-onset juvenile idiopathic arthritis, diagnosed at 3.5 of age and which was difficult to control despite several therapeutic trials. Five years after diagnosis of juvenile idiopathic arthritis, nephrotic proteinuria was noticed.

Five years of teleconsultation: experience of the Cardiology Department of Coimbra Pediatric Hospital.

Background: Telemedicine is an excellent tool to expand specialized medical care, providing better access for patients and lowering costs for their families. The objective of this work was to evaluate the reliability of teleconsultation in pediatric cardiology, with similar results to traditional consultation. It can be a useful tool to upgrade technical skills among the staff involved and to improve the quality of life of patients and families.

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement.

The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and ventricular septal defect. Amniotic fluid cytogenetics using GTG banding showed a 46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ hybridization (FISH) delineated the relevant breakpoints.

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

A minority of cases of autism has been associated with several different organic conditions, including bioenergetic metabolism deficiency. In a population-based study, we screened associated medical conditions in a group of 120 children with autism (current age range 11y 5mo to 14y 4mo, mean age 12y 11mo [SD 9.6mo], male:female ratio 2.

[Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis].

Inherited errors of purine and pyrimidine metabolism are a group of disorders with a broad spectrum of clinical manifestations. They may involve nervous, renal, haematological and immunological systems, presenting at any age. The incidence and prevalence of these disorders are unknown.

Herpes simplex virus esophagitis in immunocompetent children.

Objectives: To review clinical, laboratory, endoscopic and histologic features, treatment and outcome of immunocompetent children with Herpes simplex virus esophagitis.

Methods: Retrospective analysis of the medical records of six children (five males) referred to our unit between 1997-2001.

Results: The median age at presentation was 4 years.

Congenital left-sided Bochdalek diaphragmatic hernia. Thoracoscopic repair--case report.

The authors report the case of a 12-year-old girl who presented with a left-sided diaphragmatic hernia that was diagnosed after a pulmonary infection. CT scan confirmed a posterolateral diaphragmatic Bochdalek defect. The child underwent a thoracoscopic repair of the defect in 1997.

Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism.

Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome with moderate to severe mental retardation and no previously identified brain abnormalities. We describe the seventh case and note dysgenesis of the corpus callosum in this patient.

Schimke immuno-osseous dysplasia: case report and review of 25 patients.

Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all.

Robinow syndrome in monozygotic twins with normal stature.

Robinow syndrome was found in two monozygotic twins. We describe the clinical and radiographic manifestations in these patients, both with normal stature and one with omphalocele, with a follow-up of 13 years. Families with Robinow syndrome of both autosomal dominant and recessive inheritance have been reported.