Neonatal primary hyperparathyroidism is a life threatening disorder that is associated with severe hypercalcaemia, hypotonia, bone demineralization, fractures and respiratory distress. Treatment consists of total parathyroidectomy and without this affected infants will usually die by the age of three months. We report a patient with neonatal primary hyperparathyroidism who survived without frac...

introduction: early differentiation of biliary atresia from neonatal hepatitis is of utmost importance, since on time surgery of biliary atresia significantly improves the outcome. hepatobiliary scintigraphy is an integral part of diagnosis work-up of these patients; however its specificity for diagnosis of biliary atresia is suboptimal. in this study we evaluated the value of ursodeoxycholic a...

Case presentation: A previously healthy 3-year-old girl was admitted with a history of loss developmental milestones since 18 months age. So far, only language delay had been noticed. It evolved from then on, frequent falls, incoordination, and truncal hypotonia. Throughout the next year, she lost ability to walk. During same began have episodes tonic seizures, partial control after introductio...

Zellweger syndrome is a lethal neurological disorder characterized by severe defects in peroxisomal protein import. The resulting defects in peroxisome metabolism and the accumulation of peroxisomal substrates are thought to cause the other Zellweger syndrome phenotypes, including neuronal migration defects, hypotonia, a developmental delay, and neonatal lethality. These phenotypes are also man...

OBJECTIVE 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. RESULTS Sixty-seven individuals (39 previously unreported) from 59 famili...

Primary hyperparathyroidism is a life-threatening rare disorder. It is seen as a result of neonatal primary hyperparathyroidism, familial hypocalciuric hypercalcemia, increased vitamin D levels and inactivation of calcium sensing receptor mutations. The clinical findings are hypotonia, bone demineralization, hypercalcemia and parathyroid hyperplasia. We present a six-month-old female patient, t...

Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. Patient concerns:We report a case of a newborn with infantile-onset Pompe disease diag...

Case presentation: 5-year-old girl, born from a consanguineous couple, is referred to our service due weakness and hypotonia. It was necessary hospitalization, after birth, respiratory insufficiency severe motor delay already evident in the first months of life. At 6 she did not have head control at 12 able sit without support. She developed problems with apneas hypercapnia, 3 years age, that t...