Key Clinical MessageMethylmalonic aciduria children must follow an adequate diet with low protein intake and should be regularly monitored to prevent complications. Although skin lesions like acrodermatitis enteropathica are rare in this disease, their appearance should be correlated with possible low plasma isoleucine level and it can be a sign of decompensation.

This case expands the clinical phenotype of CHS and highlights inflammatory demyelinating neuropathy as a manifestation of the disease. Muscle Nerve 55: 756-760, 2017.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired life-threatening disorder that is extremely rare in the pediatric age. Patients with PNH may present a wide range of clinical manifestations. In most cases, the severity is associated with the size of the PNH clones; yet, some patients can be asymptomatic with a large clone. Thrombosis occurs less frequently as a presenting symptom, but it is considered the leading cause of mortality. In this article, we describe a case of PNH in a pediatric patient, complicated with venous thrombosis and with portal hypertension, associated with gastroesophageal varices at the time of diagnosis.

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Background: Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across populations. Methods: We performed a retrospective cross-sectional study of CF patients from the island of São Miguel (Azores, Portugal) through a clinical, genealogical, genetic and epidemiological investigation. The clinical course of patients was analyzed as a whole and according to their genotype. Results: We identified 14 CF patients within a 23-year period, corresponding to a cumulative incidence of 1:3012 births, being three of them born from consanguineous unions. Genetic analysis revealed three CFTR genotypes: p.[Ser4Ter];[Gln1100Pro] was present in one patient with a less severe phenotype (1/14); c.[120del23];p.[Phe508del], a very rare one (2/14); and p.[Phe508del];[Phe508del] in the remaining patients (11/14). Clinically, respiratory infections (8/ 14) and growth failure (6/14) were the most common initial manifestations. All patients presented pancreatic dysfunction, with 21.4 and 100% of them showing endocrine and exocrine insufficiency, respectively. As expected, patients with severe phenotype were homozygous for p.Phe508del and had the lowest value of body mass index. Conclusions: The present study demonstrated that São Miguel Island has an increased incidence of CF when compared to recent Portuguese data (1:7500 live births). It also allowed a comprehensive overview of CF in São Miguel, improving medical practice along with genetic counselling and creating opportunities for genotype-targeted therapies.