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Gene associated with seizures, autism, and hepatomegaly in an Amish girl.

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A genetic defect causing autism and epilepsy involving the contactin associated protein-like 2 gene (CNTNAP2) has been discovered in a selected cohort of Amish children. These children were found to have focal seizures and autistic regression. Surgical biopsy of the anterior temporal lobe of two

Over-dose insulin and stable gastric pentadecapeptide BPC 157. Attenuated gastric ulcers, seizures, brain lesions, hepatomegaly, fatty liver, breakdown of liver glycogen, profound hypoglycemia and calcification in rats.

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We focused on over-dose insulin (250 IU/kg i.p.) induced gastric ulcers and then on other disturbances that were concomitantly induced in rats, seizures (eventually fatal), severely damaged neurons in cerebral cortex and hippocampus, hepatomegaly, fatty liver, increased AST, ALT and amylase serum

15-Month-old infant with failure to thrive, hepatomegaly, increased liver enzymes, hypoproteinemia, and seizures.

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Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).

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OBJECTIVE Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase, is characterized by genotypic and phenotypic heterogeneity. We recently characterized the glucocerebrosidase alleles of a patient with an unusual clinical presentation of type 3 Gaucher

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

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ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor,

Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency.

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An eight-week-old infant, the fourth child of consanguineous parents presented with intractable neonatal seizures. The mother had two previous miscarriages. The infant initially presented on day one with multifocal myoclonus, complex partial and generalised tonic-clonic seizures. On examination,

Histological observation of the brain of Tay-Sachs disease with seizure and chronic DPH intoxication--report of an autopsy case.

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The patients was a 3-year-old boy with psychomotor retardation and attacked by seizures since 8 months of age. On funduscopy, the maculla presented a cherry-red spot. Serum hexosaminidase A activities were as low as 8.2 percent. Both parents were carriers. The patient was diagnosed as classical

Subacute encephalopathy with epileptic seizures in alcoholism (SESA): case report.

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The case of a 66-year-old patient is reported in view of the rarity of his condition: a case of subacute encephalopathy with seizures in alcoholics (SESA syndrome), described first in 1981 by Niedermeyer, et al. Wernicke-type aphasia, epileptic seizures (generalized tonic-clonic) and PLEDs EEG

Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient.

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A regional population-based survey identified six patients with pyridoxine dependency. Four presented on the first day of life and the other two at 1 and 8 months of age. Apart from multiple seizure types, other presenting features included jitteriness; encephalopathy, at first thought to be

Zellweger syndrome: A cause of neonatal hypotonia and seizures.

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Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound

Clinical profile and predictors of Severe Dengue disease: A study from South India.

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Dengue is endemic and prevalent in tropical and sub-tropical countries including India and can cause significant mortality and morbidity. There are limited studies available on factors associated with severe dengue from India, to investigate the predictors of severe dengue in south

Symptomatic infant characteristics of congenital cytomegalovirus disease in Australia.

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BACKGROUND Human cytomegalovirus (CMV) is the most common cause of viral intrauterine infection. In utero transmission can occur during primary maternal infection, reactivation or reinfection of seropositive mothers. OBJECTIVE To describe the aetiology and clinical features of infants diagnosed with

Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria.

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Intracranial calcification and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome. This emerging entity has been registered in eight families so far. We report on

[Retrospective analysis of 39 child cases of paragonimiasis].

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Clinical data of 39 children with paragonimiasis treated in Chongqing Three Gorges Central Hospital during 2008-2010 were retrospectively analyzed. The cases aged from 3 to 10 years old, with 25 cases of polyserositis (64.1%), 14 cases of cerebral paragonimiasis (35.9%). Among the cases of

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

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Peroxisome biogenesis disorders (PBD) represent a spectrum of genetic disorders characterized by impaired peroxisome assembly. Zellweger syndrome (ZS) is the most severe form of PBD and is characterized by craniofacial abnormalities, severe hypotonia, neonatal seizures, ocular abnormalities,

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