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lipodystrophy/seizures
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Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
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Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features. Muscle hypertrophy caused by lack of adipose tissue is present
Epilepsy in congenital lipodystrophy. Case report.
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A case of congenital lipodystrophy complicated by complex-partial epilepsy is reported in a nine-year-old girl. The peculiarity of this rare case is represented by partial complex epilepsy with diffuse electroencephalographic alterations represented by a continuous seizure-like pattern that
Membranous lipodystrophy of bone.
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A 23-year old man with a fracture of the right lateral malleolus was found to have osteolytic lesions of the lower end of both fibulas and of the right talus. He was mentally defective from birth, with convulsions from the age of 4 years and a limp since the age of 15. Biopsy tissue from the right
Lafora disease and congenital generalized lipodystrophy: a case report.
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We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood. Lafora disease was diagnosed based on skin biopsy results, which revealed pathognomonic Lafora bodies. The results of genetic analysis for
Nasu-Hakola's disease (membranous lipodystrophy).
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An autopsy case of Nasu-Hakola's disease (membranous lipodystrophy) is reported. A 43-year-old Japanese man, whose parents were not consanguineous, had been suffering from frequent long bone fractures since the age of 10. Neuropsychiatric symptoms, which were characterized by euphoria, disturbance
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.
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BACKGROUND
Genetic lipodystrophies are rare disorders characterized by partial or complete loss of adipose tissue and predisposition to insulin resistance and its complications such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, acanthosis nigricans, and polycystic ovarian
[Membranous lipodystrophy (Nasu-Hakola disease)].
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We present a case-report and review of the literature on membranous lipodystrophy. This is a rare disease characterized by progressive presenile dementia, multiple bone cysts with pathologic fractures, generalized cerebral seizures with abnormal EEG and bilateral calcifications of the basal ganglia.
Membranous lipodystrophy (Nasu disease): clinical and neuropathological study of a case.
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We report a sibling case of Nasu disease. A 35-year-old housewife, whose parents were consanguineous and whose sister died of the same disease, developed dementia, followed by bone fracture, incontinence and convulsions. She died at age 41. Pathologically, characteristic membranocystic changes of
Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy.
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We describe an Italian male patient, deceased at 29 years of age, affected with a syndrome characterized by childhood-onset seizures, mental disorders, motor dysfunction and bilateral palatal myoclonus. Skeletal X-ray examination showed diffuse osteopenia of the tubular bones, and cyst-like lesions
Natural course of neonatal progeroid syndrome.
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BACKGROUND
Several progeroid disorders presenting a specific "old-man" appearance since birth or childhood have been described. Here, five patients with a history of severe intrauterine and postnatal growth retardation and pseudohydrocephaloid cranium noted after birth that were suggestive of
Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice.
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Defects in the biosynthesis of phospholipids and neutral lipids are associated with cell membrane dysfunction, disrupted energy metabolism, and diseases including lipodystrophy. In these pathways, the 1-acylglycerol-3-phosphate O-acyltransferase (AGPAT) enzymes transfer a fatty acid to the sn-2
Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.
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Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, cardiomyopathy, progressive renal and hepatic dysfunction, and endocrinological features such as severe insulin resistance, type 2 diabetes, hyperlipidemia, and hypogonadism. Widespread fibrosis leads to
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
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We describe the second case of congenital disorder of glycosylation type IL (CDG-IL) caused by deficiency of the ALG9 a1,2 mannosyltransferase enzyme. The female infant's features included psychomotor retardation, seizures, hypotonia, diffuse brain atrophy with delayed myelination, failure to
Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.
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Seven patients with polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy (PLO-SL or membranous lipodystrophy) were examined clinically and with CT scanning. The degree of dementia was severe in five cases, marked in one case, and mild in one case. All patients suffered from
Impact of protease inhibitor substitution with efavirenz in HIV-infected children: results of the First Pediatric Switch Study.
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OBJECTIVE
Simplification of antiretroviral regimen in human immunodeficiency virus (HIV)-infected children has not yet been investigated. In general, children have a more difficult time maintaining viral suppression because of many factors, including frequent nonadherence and less availability of
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