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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.
Journal of pediatric endocrinology & metabolism: JPEM 01/2011; 24(5-6):381-3. · 0.88 Impact Factor
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The Turkish journal of pediatrics 54(1):92. · 0.44 Impact Factor
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ABSTRACT: Brain abscess is a focal, intracerebral infection that begins as a localized area of cerebritis and develops into a collection of pus surrounded by a well-vascularized capsule. Here, we report a case with multiple, large brain abscesses diagnosed coincidentally on postnatal day 11. This case is noteworthy because the organized abscesses were present as early as day 11 with no significant neurological signs or symptoms. Brain abscess in newborns is a very rare disease that may not exhibit the expected neurological signs and symptoms. Depending on the radiological organization, an abscess in a neonate in the first weeks may be the result of an intrauterine infection.
The Turkish journal of pediatrics 53(5):561-6. · 0.44 Impact Factor
