Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter

BACKGROUND: \u3b1/\u3b2-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the initial step of TAG hydrolysis. Mutations in ABHD5 gene are associated with the onset of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive lipid storage disorder, characterized by non-bullous congenital ichthyosiform erythroderma (NCIE), hepatomegaly and liver steatosis. CASE PRESENTATION: We describe here a 5-years-old Brazilian child who presented with NCIE at birth and diffuse micro and macro-vesicular steatosis on liver biopsy since she was 2 years old. Molecular analysis of coding sequence and putative 5' regulatory region of ABHD5 gene was performed. A homozygous novel deletion, affecting the promoter region and the exon 1, was identified, confirming the suspected diagnosis of CDS for this patient. RT-PCR analysis showed that the genomic rearrangement completely abolished the ABHD5 gene expression in the patient, while only a partial loss of expression was detected in her parents. This is the first report describing the identification of a large deletion encompassing the promoter region of ABHD5 gene. The total loss of ABHD5 expression may explain the early onset of CDS and the severe liver involvement. After molecular diagnosis, the patient started a special diet, poor in fatty acids with medium chain triglycerides (MCT), and showed hepatic and dermatologic improvement in spite of severe molecular defect. CONCLUSIONS: This case report extends the spectrum of disease-causing ABHD5 mutations in CDS providing evidence for a novel pathogenic mechanism for this rare disorder. Moreover, our preliminary data show that early diagnosis and prompt treatment of neutral lipid accumulation might be useful for CD patients

Tratamento da síndrome da apnéia e hipopnéia obstrutiva do sono com aparelhos intrabucais Treatment of obstructive sleep apnea and hipoapnea syndrome with oral appliances

A síndrome da apnéia e hipopnéia obstrutiva do sono (SAHOS) é um distúrbio que atinge cerca de 4% da população adulta e que, além dos problemas sociais associados ao ronco e à sonolência diurna excessiva, é preocupante pelos quadros de hipertensão pulmonar e insuficiência cardíaca que pode desencadear. REVISÃO E DISCUSÃO: Através de uma revisão de literatura discutiu-se o uso de aparelhos intrabucais para o tratamento dessa patologia, destacando-se a eficácia e as limitações dessa terapia, os principais sintomas clínicos, os principais efeitos colaterais oclusais, o grau de colaboração e o índice de satisfação dos pacientes. CONCLUSÕES: Concluiu-se que a terapia com aparelhos intrabucais deve ser a de primeira escolha para o tratamento de SAHOS de média a moderada, sendo o desconforto dentário, articular e muscular, a hipersalivação e a xerostomia os sintomas clínicos mais freqüentes, com efeitos colaterais oclusais leves que normalmente não geram incômodos aos pacientes, com bom grau de colaboração e alto índice de satisfação.<br>Obstructive sleep apnea and hipoapnea syndrome (OSAHS) is a disorder that affects about 4% of the adult population, and besides the social problems associated to snoring and extreme day time sleepiness, it is preoccupying since it may cause pulmonary hypertension and cardiac failure. REVIEW AND DISCUSSION: Through a literature review, we discuss the use of oral appliances to treat this condition, in regards of therapy effectiveness and limitations, main clinical symptoms, major occlusal side effects, rate of improvement and patient satisfaction. CONCLUSIONS: We concluded that the use of oral appliances should be a first choice treatment for mild to moderate OSAHS, being dental, joint and muscular discomforts, hypersalivation and xerostomia, the most frequent clinical symptoms, with light occlusal side effects that normally do not bother the patients, with a good degree of improvement and high satisfaction index