Abstract lntroduction: Osteogenesis imperfecta (OI) is a rare genetic disease characterized mainly by bane fragility and can have a series of systemic manifestations. lts management involves a multidisciplinary approach. The authors intend to describe the characteristics of an adult population with 01 and evaluate the treatment used. Material and Methods: An observational and retrospective study based on data obtained from the clínical files of patients, aged older than 18 years, with clínical diagnosis of osteogenesis imperfecta, followed at outpatient clinic of Metabolic Hereditary Oiseases at Hospital Centre. Data were recorded from the medical history reported by the patients, physical examination, radiological, laboratory and bane densitometry data as well as used treatment. Results: Twenty patients were included aged between 19 and 61 years old, 75.0% of them were classified type I 01, 15. 0% type III and 10, 0% type IV. The mean number of fractures were 15. 45 ± 15. 39 and this number was higher in type III and IV patients. Regarding bane mineral density, 50. 0% of patients under 50 years old and 100. 0% of patients older than 50 years presented osteoporosis criteria, as well as 66. 6% and 50.0% of type III and IV patients, respectively. About 90.0% of patients reported being treated with bisphosphonates at some point in their tives. Conclusion: OI is a disease with great clínical variability. There is no cure, but vitamin O, calcium supplementation and bisphosphonate treatment seek to reduce the incidence of fractures.

Resumo Introdução: A osteogénese imperfeita (OI) é uma doença genética rara caraterizada principalmente pela fragilidade óssea, podendo ter uma série de manifestações sistémicas. A sua gestão implica uma abordagem multidisciplinar. Os autores pretendem descrever as caraterísticas de uma população adulta com OI e avaliar o tratamento usado. Material e Métodos: Estudo observacional e retrospetivo com base nos dados obtidos através da consulta de processos clínicos de doentes com idade superior a 18 anos com diagnóstico clínico de OI, seguidos na consulta de Doenças Hereditárias do Metabolismo no Centro Hospitalar. Foram registados dados da história médica reportada pelos doentes, do exame físico realizado pelo médico assistente, os resultados laboratoriais, radiográficos e de densitometrias ósseas, bem como as terapêuticas utilizadas. Resultados: Foram incluídos 20 doentes com idades entre os 19 e os 61 anos, 75,0% dos doentes tinham OI tipo I, 15,0% do tipo III e 10,0% do tipo IV. O número médio de fraturas foi de 15,45 ± 15,39, tendo sido superior nos doentes do tipo Ili e do tipo IV. Relativamente à densidade mineral óssea, 50,0% dos doentes com menos de 50 anos e 100,0% dos doentes mais de 50 anos do tipo I apresentaram critérios de osteoporose, bem como 66,6% e 50,0% dos doentes do tipo Ili e IV, respetivamente. Cerca de 90,0% dos doentes foram medicados com bifosfonatos em algum momento da sua vida. Conclusão: A OI apresenta grande variabilidade clínica. Não há tratamento curativo, mas a suplementação de cálcio, vitamina D e tratamento com bifosfonatos procuram reduzir a incidência de fraturas.

ABSTRACT Introduction: Ammonia is a resultant molecule from the protein metabolism that can be neurotoxic when present in high concentrations, causing brain edema and encephalopathy. Extracorporeal blood purification technique (EBPT) can play a role in reducing both ammonia and urea blood levels. However, there are no specific guidelines for its use in hyperammonemia, due to its low incidence and scarce literature on this subject, particularly in adults. Case report: The authors describe a case of a 22‑year‑old previously healthy woman. She presented with polyuria, polydipsia, anorexia, vomiting and significant (>10%) weight loss over a month. Laboratory data revealed hypoglycemia and a high anion gap metabolic acidosis with severe acidemia with normal lactate, serum creatinine of 1.12 mg/dl and 260 (reference value 26‑74)umol/l of ammonia. Urine analysis showed ketone bodies. She evolved with progressive encephalopathy and neurological deterioration. The hypothesis of hyperammonemic encephalopathy secondary to a hereditary metabolic disease was suspected. Medical supportive therapy was initiated. An EBPT for ammonia removal and acid‑base correction was initiated using continuous venovenous hemodiafiltration (CVVHDF) with a drastic neurologic improvement. A fatty acid beta‑oxidation deficit was discovered. The patient was discharged with no neurological changes, with a strict diet free of fat, animal protein and high‑protein vegetables, plus supplementation with benzoate, carnitine, riboflavin, maltodextrine and essential amino acids. Discussion and conclusion: In adults, hyperammonemia related to metabolic disorders is rare, and in the presence of encephalopathy, ECDT should be considered. Ammonia is easily dialysable either by intermittent or continuous techniques. CVVHDF provides a continuous clearance with less rebound effect.

Abstract In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrospective study, the impact of Phe/NP titration post-LT in 58 patients (19.6 + 8.2 years) with PKU during 4 study periods (SPs) was examined. In SP1 (2010-2013), patients were diet treated only; in SP2 (2014), the Phe/NP titration was followed by the LT in SP3 (2015). In SP4 (2016), patients received diet treatment only (n ¼ 49) or BH4 þdiet (n ¼ 9). The median percentage blood Phe within the target range was higher in SP1 versus SP4 (64 [28-85] vs 45 [0-66]; P < .001). Our results suggest that transient Phe/NP titration, associated with a deliberate increase in NP, may adversely affect metabolic control. Controlled studies are necessary to examine the longer term impact of temporary increased NP with BH4 LT in non-BH4-responsive patients.

A xantomatose plana difusa normolipêmica (XPDN) é uma dermatose adquirida rara, muitas vezes associada a doenças sistêmicas, nomeadamente neoplasias hematológicas(sobretudo o mieloma múltiplo) ou a processos linfoproliferativos. A XPDN pode preceder o aparecimento dessas doenças em vários anos, sendo por isso recomendada uma vigilância clínica e laboratorial periódica, mesmo para os doentes que aparentemente não apresentam uma doença associada. Descrevemos um caso associado à gamopatia monoclonal. Este caso demonstra a importância das manifestações cutâneas como primeira manifestação de doenças hematológicas importantes e por isso os clínicos devem estar familiarizados com esta entidade

Diffuse plane normolipemic xanthomatosis (DPNX) is a rare, non-inherited disease that is often associated with systemic diseases, mainly malignant hematological (especially multiple myeloma) or lymph proliferative disorders. The DPNX can precede the appearance of such conditions by several years, so careful follow-up and periodic laboratory examinations are recommended even for patients that seemed to have no underlying disease. We describe a case associated with monoclonal gammopathy. This case shows that dermatological lesions can be the first manifestation of important hematological diseases and so physicians should be familiarized with this entity