منابع مشابه
Sheehan's syndrome presenting with type III hyperlipoproteinaemia.
A patient is described in whom the presenting feature of hypopituitarism was the development of palmar xanthomata associated with type III hyperlipoproteinaemia. Treatment of her secondary hypothyroidism with thyroxine caused resolution of the xanthomata and hyperlipidaemia, but the underlying compositional abnormality of the lipoproteins could still be observed.
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A brother and sister with mental retardation, malformations of the cerebellar vermis, characteristic 'metronome' eye movements, lingual hamartomas, and postaxial polydactyly are described. The clinical overlap with the OFD group of syndromes, in particular OFD III and OFD VI, and Joubert's syndrome is discussed. If OFD III syndrome is to be recognised as a distinct entity, these two cases repre...
متن کاملPoint mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Classical lissencephaly (smooth brain) or generalized agyria-pachygyria is a severe brain malformation which results from an arrest of neuronal migration at 9-13 weeks gestation. It has been observed in several malformation syndromes including Miller-Dieker syndrome (MDS) and isolated lissencephaly sequence (ILS). A gene containing beta-transducin like repeats, now known as LIS1, was previously...
متن کاملMucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies.
Mucopolysaccharosis III (MPS III) is a lysosomal storage disorder and belongs to the group of mucopolysaccharidoses. MPS III is caused by a deficiency of one of the four enzymes catalyzing the degradation of the glycosaminoglycan heparan sulfate. MPS III is clinically characterized by progressive dementia with distinct behavioral disturbances and relatively mild somatic disease. This review wil...
متن کاملPolyglandular Autoimmune Syndrome Type III with Primary Hypoparathyroidism
Polyglandular autoimmune syndrome is defined as multiple endocrine gland insufficiencies accompanied by autoimmune diseases of the endocrine and nonendocrine system. After Schmidt introduced a case of nontuberculosis adrenal gland dysfunction with thyroiditis in 1926, Neufeld defined polyglandular autoimmune syndrome by I, II, and III subtypes in 1980 by their presentation of occurrence age, he...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1996
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-10-5-8