Transient neonatal renal failure and massive polyuria in MEGDEL syndrome
نویسندگان
چکیده
BACKGROUND MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1. OBJECTIVES To report transient neonatal renal findings in MEGDEL syndrome. RESULTS This 7 year-old girl was the first child of consanguineous Turkish parents. She exhibited an acute neonatal deterioration with severe lactic acidosis and liver failure. Initial evaluation revealed massive polyuria and renal failure with 3-methylglutaconic aciduria. Symptoms and biological findings progressively improved with symptomatic treatment but lactic acidosis and high lactate to pyruvate ratio along with 3-methylglutaconic aciduria persisted. At 8 months of age, a subacute neurological degradation occurred with severe hypotonia, dystonia with extrapyramidal movements and failure to thrive. Brain MRI revealed basal ganglia lesions suggestive of Leigh syndrome. At 3 years of age, sensorineural deafness was documented. MEGDEL syndrome was further confirmed by the identification of an already reported homozygous mutation in SERAC1. CONCLUSION Transient neonatal polyuria and renal failure have not been reported to date in SERAC1 defective patients. Such neonatal kidney findings expand the clinical spectrum of MEGDEL syndrome.
منابع مشابه
دیابت بیمزه پس از زایمان واژینال: گزارش موردی
Background: A variety of endocrine disorders can complicate pregnancy. Diabetes insipidus although uncommon, may have devastating effect on pregnancy outcome, if unrecognized and untreated. The etiology of diabetes insipidus is often unknown, many cases are likely autoimmune, with lymphocytic infiltration of the posterior pituitary gland. Massive polyuria, caused by failure of the renal tubular...
متن کاملDeficiency of antidiuretic hormone: a rare cause of massive polyuria after kidney transplantation.
A 15-year-old boy, who was diagnosed with Alport syndrome and end-stage renal disease, received a renal transplant from a living-related donor. On postoperative day 1, his daily urine output was 10,000 mL despite normal graft function. His laboratory findings including urine, serum osmolality, and antidiuretic hormone levels showed signs similar to central diabetes insipidus, so he was administ...
متن کاملگزارش یک مورد نارسایی حاد کلیه به دنبال مصرف کاپتوپریل در یک کودک مبتلا به سندرم بارتر
Bartter syndrome presenting in neonatal or early infancy is characterized by salt loosing tubulopathy, hypokalemia, and metabolic alkalosis. Failure to thrive is one of the most common findings in neonatal bartter syndrome. Angiotensin converting enzyme inhibitors are one of the therapeutic options for improving growth in these patients.We describe a case of neonatal bartter syndrome with mild ...
متن کاملCongenital Nephrotic Syndrome: A Cases Report
Congenital nephrotic syndrome (CNS) can be caused by neonatal infections and renal diseases that usually occur in early infancy. The most common CNS is the Finnish type, which is an autosomal recessively inherited disease characterized by intrauterine onset of massive proteinuria. In this study, we presented a preterm neonate confirmed as the first case of CNS in Iran by genetic study, who was ...
متن کاملA Case of Bardet-Biedl Syndrome
Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...
متن کامل