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A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene
-
Arzu Akdag
,
Serife Suna Oğuz
Veröffentlicht/Copyright:
8. Juni 2011
Abstract
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. We describe a preterm neonate with Gaucher disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis in portal and splenic veins possibly due to homozygosity for C677T mutation in MTHFR gene. To the best of our knowledge, this is the first case homozygous for the GBA R463H mutation resulting in Gaucher disease with a concomitant homozygous MTHFR C677T mutation.
Published Online: 2011-06-08
Published in Print: 2011-06-01
©2011 by Walter de Gruyter Berlin Boston
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Artikel in diesem Heft
- Publisher's Note
- Publisher's Note
- Editorial
- The damage caused by incomplete and uncontrolled medical information
- Images in Pediatric Endocrinology
- Dorsolumbar kyphosis: diagnostic value of hook shaped vertebra
- Original Contributions
- Are adolescent weight-related problems and general well-being essentially an issue of age, gender or rather a pubertal timing issue?
- Comparison of methimazole and propylthiouracil in the management of children and adolescents with Graves’ disease: efficacy and adverse reactions during initial treatment and long-term outcome
- The effect of glucocorticoid replacement therapy on bone mineral density in children with congenital adrenal hyperplasia
- Treatment of symptomatic osteoporosis in children: a comparison of two pamidronate dosage regimens
- Stanozolol regulates proliferation of growth plate chondrocytes via activation of ERα in GnRHa-treated adolescent rats
- A case of McCune-Albright syndrome associated with pituitary GH adenoma: therapeutic process and autopsy
- The role of metabolic syndrome components and adipokines in insulin resistance in prepubertal children
- A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones
- Causes and patterns of referral to a tertiary, multidisciplinary program for the treatment of childhood obesity
- Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome
- Plasma leptin and adiponectin concentrations in healthy, non-obese children
- Puberty and pubertal growth dynamics in children with idiopathic short stature
- Endocrine complications following pediatric bone marrow transplantation
- Rare hypertension as a result of 17α-hydroxylase deficiency
- Girls with early puberty attain a near-final height similar to their target height
- Persistent hyperthyrotropinemia in congenital hypothyroidism: successful combination treatment with levothyroxine and liothyronine
- Benign transient hyperphosphatasemia in infants and children: a prospective cohort
- The relation between 25-hydroxyvitamin D with peak bone mineral density and body composition in healthy young adults
- Childhood obesity: evidence of an association between plasminogen activator inhibitor-1 levels and visceral adiposity
- Glargine basal-bolus insulin regimen versus insulin pump therapy: comparison of glycemic control
- Patient Report Letters
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- A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene
- Hyperthyroidism presenting with hyperglycemia in an adolescent female
- Short Communications
- A single base-pair deletion in the WFS1 gene causes Wolfram syndrome
- Growth suppression caused by corticosteroid eye drops
- Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations
- Letter to the Editor
- Meetings
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