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SummaryThe X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28 leading to accumulation of very long chain fatty acids (VLCFA), progressive demyelination and adrenal insufficiency. An 8-year-old boy was referred to our paediatric endocrinology clinic due to fatigue and hyperpigmentation with onset at 2-years old. Blood tests revealed mineralocorticoid insufficiency. Serum adrenocorticotropic hormone and cortisol concentrations were compatible with adrenal insufficiency. Adrenal antibodies were negative. The elevated plasmatic concentration of VLCFA and the genotype analysis with sequencing of ABCD1 gene established the diagnosis of X-ALD. Brain MRI showed demyelination of white matter in the peritrigonal regions. Steroid replacement was started with good response. He initiated restriction of VLCFA by reducing the intake of fatty foods. The authors highlight the importance of suspecting of X-ALD in the aetiology of primary adrenal insufficiency as the first sign of the disease. BACKGROUND

RESUMOEste artigo objetiva-se: a) Relatar a partir da experiência da prática do cuidar os principais efeitos adversos aos quais estão sujeitos os recém-natos que são submetidos ao uso do cpap nasal; b) Sugerir, à luz da vulnerabilidade anátomo-fisiológica desta clientela, a forma pela qual o cpap (Continuous Positive Airway Pressure) nasal deve ser instalado pelos profissionais da equipe de enfermagem, a fim de evitar estes efeitos. Estudo descritivo observacional, desenvolvido em Junho e Julho/2008, utilizando a observação participante e o diário de campo. Os possíveis efeitos adversos ocorrem, como um evento em cascata iniciando pela isquemia da mucosa e finalizando em necrose e desvio de septo. Conclui-se que, tal como todo o artefato tecnológico, o cpap nasal também foi concebido para ser um coadjuvante ao tratamento, porém, ao ser utilizado sem as observações adequadas pode passar a ser um complicador no processo de restauração da saúde e da qualidade do cuidado de enfermagem oferecido ao recém-nato.

Autoimmune polyglandular syndrome type 2 (type 2 APS), or Schmidt's syndrome, is defined by the presence of Addison's disease in combination with type 1 diabetes and/or autoimmune thyroid disease. The estimated prevalence of this syndrome is 1.4-4.5 per 100,000 inhabitants and it is more frequent in middle-aged females, whilst it is quite rare in children. Type 2 APS, which shows a pattern of autosomal dominant inheritance with low penetrance, has been associated with HLA specific DR3/DQ2 and DR4/DQ8 haplotypes. However, it has been hypothesized that genetic variability in the AIRE gene, which causing type 1 APS, may play a role in more common organ-specific autoimmune conditions like type 1 diabetes, Hashimoto's disease and type 2 APS, among others. Here we present the case of an 8-year-old girl, with a past medical history of type 1 diabetes diagnosed at the age of 3. She was taken to the Emergency Department because she complained of abdominal pain, nausea and vomiting, and her blood analysis revealed a severe hyponatremia. She also had seizures as a consequence of the hyponatremia and frequent hypoglycemia. She was ultimately found to be suffering from autoimmune primary adrenal insufficiency. The combination of both mentioned conditions, type 1 diabetes and Addison's disease, in the absence of chronic mucocutaneous candidiasis, made a diagnosis of type 2 APS plausible in this girl. The genetic study showed two heterozygous variants: NM_000383.2:C.1411C>T (p. Arg471Cys) in exon 12 and IVS9+6G>A in intron 9 of the AIRE gene. The description of an uncommon case of type 2 APS with precocious presentation associated with an AIRE mutation in a very young girl could help to clarify the role of AIRE in the development of autoimmune diseases.

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SummaryBloody nipple discharge (BND) in infancy is an exceptionally rare finding. We report the cases of two children who are 9 and 29 months old. The first case presented with 1 month of bilateral intermittent blood-stained nipple discharge with no other symptoms. The second case presented with 15 days of intermittent right BND and a small palpable mass, without obvious signs of inflammation. The coagulation and hormonal tests were within the age-appropriate reference ranges. Ultrasound examination was normal. Cytological evaluation of nipple discharge showed no malignant cells. Both patients had spontaneous symptoms resolution. BND in paediatric age is usually benign and self-limited and often related to mammary duct ectasia. Unnecessary invasive procedures or treatments should be avoided. BACKGROUND

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