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- European lipodystrophy registry: background and structurePublication . von Schnurbein, Julia; Adams, Claire; Akinci, Baris; Ceccarini, Giovanni; D’Apice, Maria Rosaria; Gambineri, Alessandra; Hennekam, Raoul C. M.; Jeru, Isabelle; Lattanzi, Giovanna; Miehle, Konstanze; Nagel, Gabriele; Novelli, Giuseppe; Santini, Ferruccio; Santos Silva, Ermelinda; Savage, David B.; Sbraccia, Paolo; Schaaf, Jannik; Sorkina, Ekaterina; Tanteles, George; Vantyghem, Marie-Christine; Vatier, Camille; Vigouroux, Corinne; Vorona, Elena; Araújo-Vilar, David; Wabitsch, MartinBackground: Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is difficult and international co-operation mandatory. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients with lipodystrophy. Results: The registry was build using the information technology Open Source Registry System for Rare Diseases in the EU (OSSE), an open-source software and toolbox. Lipodystrophy specific data forms were developed based on current knowledge of typical signs and symptoms of lipodystrophy. The platform complies with the new General Data Protection Regulation (EU) 2016/679 by ensuring patient pseudonymization, informational separation of powers, secure data storage and security of communication, user authentication, person specific access to data, and recording of access granted to any data. Inclusion criteria are all patients with any form of lipodystrophy (with the exception of HIV-associated lipodystrophy). So far 246 patients from nine centres (Amsterdam, Bologna, Izmir, Leipzig, Münster, Moscow, Pisa, Santiago de Compostela, Ulm) have been recruited. With the help from the six centres on the brink of recruitment (Cambridge, Lille, Nicosia, Paris, Porto, Rome) this number is expected to double within the next one or 2 years. Conclusions: A European registry for all patients with lipodystrophy will provide a platform for improved research in the area of lipodystrophy. All physicians from Europe and neighbouring countries caring for patients with lipodystrophy are invited to participate in the ECLip Registry.
- Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene PleiotropyPublication . Borges, Teresa; Fortuna, Ana; Faria, Maria Do Sameiro; Oliveira, Maria João; Freitas, Joana; Santos Silva, Ermelinda; Quelhas, D; Figueiredo, Catarina Matos; Soares, Ana RitaCo-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (PMM2), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Although PMM2 has been associated with congenital disorder of glycosylation, patients do not present with this phenotype and have normal carbohydrate-deficient transferring testing. The authors present a rare case where specific PMM2 study was performed as a result of clinical suspicions. The patient was a 6-year-old female followed at our clinic due to congenital hyperinsulinism since she was 1 month old. She also presented with bilateral polycystic kidneys, detected in prenatal set, and simple hepatic cysts, for which she was treated with diazoxide and captopril. Initial metabolic and genetic studies were normal. PMM2 gene sequence study revealed the promotor variant c.-167G>T in compound heterozygosity with the previously described pathogenic variant c.422G>A (p.Arg141His), confirming the diagnosis of HIPKD. This is a notable case as it highlights the importance of keeping this diagnostic hypothesis in mind and serves as a reminder to perform proper clinical and genetic investigation. A correct, and early, diagnosis will avoid unnecessary additional investigations and will allow appropriate genetic counselling for this autosomal recessive disorder.
- Iatrogenic superior mesenteric artery syndromePublication . Silva, G.; Moreira-Silva, He.; Tavares, Ma.We have carefully read the article "Superior mesenteric artery syndrome: an uncommon cause of intestinal obstruction" by José Barquín-Yagüez et al. and we would like to report one case with the same diagnosis but with another etiology.
- Dysphagia lusoria: uncommon cause of dysphagia in childrenPublication . Moreira Silva, H.; Silva, G.; Lima, R.Dysphagia lusoria (lusus naturae, latin for "freak of nature") describes dysphagia because of vascular compression of the esophagus. Symptoms, when present, occur at the two extremes of life. Owing to the more flexible and compressible nature of the trachea, children usually present with respiratory symptoms, in contrast to adults, who more often present with dysphagia. Here, we report the case of a six-year-old child presenting with a history of progressive dysphagia without respiratory symptoms. A barium esophagogram showed a diagonal impression in the proximal esophagus, while at esophagogastroduodenoscopy there was an extrinsic pulsatile bulging area suggesting an extrinsic compression by an aberrant vessel. Angio-CT (computed tomography) scan confirmed the presence of an aberrant right subclavian artery.
- Childhood Fructoholism and Fructoholic Liver DiseasePublication . Ribeiro, A.; Igual-Perez, M.; Santos Silva, Ermelinda; Sokal, E.Nonalcoholic fatty liver disease (NAFLD) is an emerging entity, becoming the most prevalent pediatric chronic liver disease. Its broad spectrum of histological findings, comorbidities, and complications, including cirrhosis and liver failure, can occur in childhood, emphasizing the severity of pediatric NAFLD. Current lifestyle and diet modifications have been linked to the increasing prevalence of NAFLD, including the rise of fructose consumption, a monosaccharide present in foods that contain added sugar, such as sugar-sweetened beverages. Excessive fructose consumption is believed to cause addiction like alcohol and other drugs. As such, the new term "fructoholism" refers to the consumption of a substance (fructose) that can cause psychological and physical damage and become a major public health concern, highlighting the seriousness of the excessive consumption of fructose in the pediatric age. Hepatic fructose metabolization leads to hepatic steatosis and progression to fibrosis through mechanisms comparable to alcoholic liver disease, hence the term "fructoholic liver disease." Conclusion: The importance of implementing reliable global strategies, such as education campaigns to promote healthy diet, increasing taxes on foods that contain added sugars, subsidies to promote accessibility to fruit and vegetables, and strict food industry regulation to reduce sugar intake in children and adolescents, cannot be overemphasized.
- A case of Protracted Diarrhea in a Newborn: a Diagnostic ChallengePublication . Mendes, C.; Figueiredo, C.; Mansilha, H.; Proença, E.; Oliveira, D.; Lima, R.; Carvalho, C.Congenital diarrhea comprises a broad range of pathologies and often requires a thorough workup and immediate treatment. Although rare, microvillous inclusion disease (MVID) should be included in differential diagnosis of this presentation in the neonate. We report the case of a 36-week newborn who developed signs of severe dehydration and lethargy, requiring fluid resuscitation and total parenteral nutrition. MVID was diagnosed by recognition of profuse secretory diarrhea after an exhaustive etiological investigation, confirmed by DNA analysis.
- Liver Transplantation Prevents Progressive Neurological Impairment in ArgininemiaPublication . Santos-Silva, E.; Cardoso, M.; Vilarinho, L.; Medina, M.; Barbot, C.; Martins, E.Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. The onset of the disease is usually in childhood, and clinical manifestations include progressive spastic paraparesis and mental retardation. Liver involvement is less frequent and usually not as severe as observed in other UCDs. For this reason, and because usually there is a major neurological disease at diagnosis, patients with argininemia are rarely considered as candidates for OLT despite its capacity to replace the deficient enzyme by an active one. We report on long-term follow-up of two patients with argininemia. Patient 1 was diagnosed by the age of 20 months and despite appropriate conventional treatment progressed to spastic paraparesis with marked limp. OLT was performed at 10 years of age with normalization of plasmatic arginine levels and guanidino compounds. Ten years post-OLT, under free diet, there is no progression of neurological lesions. The second patient (previously reported by our group) was diagnosed at 2 months of age, during a neonatal cholestasis workup study. OLT was performed at the age of 7 years, due to liver cirrhosis with portal hypertension, in the absence of neurological lesions and an almost-normal brain MRI. After OLT, under free diet, there was normalization of plasmatic arginine levels and guanidino compounds. Twelve years post-OLT, she presents a normal neurological examination. We conclude that OLT prevents progressive neurological impairment in argininemia and should be considered when appropriate conventional treatment fails.
- Clinical trial of lamivudine in children with chronic hepatitis B.Publication . Jonas, M.M.; Mizerski, J.; Badia, I.B.; Areias, J.A.; Schwarz, K.B.; Little, N.R.; Greensmith, M.J.; Gardner, S.D.; Bell, M.S.; Sokal, E.M.; International Pediatric Lamivudine Investigator Group.N Engl J Med. 2002 May 30;346(22):1706-13. Clinical trial of lamivudine in children with chronic hepatitis B. Jonas MM, Mizerski J, Badia IB, Areias JA, Schwarz KB, Little NR, Greensmith MJ, Gardner SD, Bell MS, Sokal EM; International Pediatric Lamivudine Investigator Group. of Gastroenterology, Children's Hospital, Boston, MA 02115, USA. Erratum in: N Engl J Med 2002 Sep 19;347(12):955. Kelley, Deirdre [corrected to Kelly, Deirdre]. Comment in: J Hepatol. 2003 May;38(5):698-9. N Engl J Med. 2002 May 30;346(22):1682-3. Abstract BACKGROUND: Lamivudine therapy is effective for chronic hepatitis B infection in adults. We evaluated the efficacy and tolerability of lamivudine as a treatment for chronic infection with hepatitis B virus (HBV) in children. METHODS: Children with chronic hepatitis B were randomly assigned in a 2:1 ratio to receive either oral lamivudine (3 mg per kilogram of body weight; maximum, 100 mg) or placebo once daily for 52 weeks. The primary end point was virologic response (defined by the absence of serum hepatitis B e antigen and serum HBV DNA) at week 52 of treatment. RESULTS: Of the 403 children screened, 191 were randomly assigned to receive lamivudine and 97 to receive placebo. The rate of virologic response at week 52 was higher among children who received lamivudine than among those who received placebo (23 percent vs. 13 percent, P=0.04). Lamivudine therapy was well tolerated and was also associated with higher rates of seroconversion from hepatitis B e antigen to hepatitis B e antibody, normalization of alanine aminotransferase levels, and suppression of HBV DNA. CONCLUSIONS: In children with chronic hepatitis B, 52 weeks of treatment with lamivudine was associated with a significantly higher rate of virologic response than was placebo. PMID: 12037150 [PubMed - indexed for MEDLINE]
- Clinical quiz.Publication . PRIOR, A.C.; SELORES, M.; PINA, R.; DIAS, J.A.; COSTA, F.M.; VALE, L.; GOMES, L.J Pediatr Gastroenterol Nutr. 2005 Oct;41(4):483-4, 484. Clinical quiz. Prior AC, Selores M, Pina R, Dias JA, Costa FM, Vale L, Gomes L. Department of Pediatrics, Hospital Geral de Santo António, Portugal. PMID: 16205521 [PubMed - indexed for MEDLINE