muscle hypotonia/hepatite

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A new nonsense mutation of the IGHMBP2 gene responsible for the first case of SMARD1 in a Sardinian patient with giant cell hepatitis.

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We describe the case of a Sardinian female child affected by SMARD1, a genetic composite heterozygote, in whom a new nonsense mutation (R788X) was found. A sister was affected by generalized muscular hypotonia and died from respiratory insufficiency at the age of 9 months, before a diagnostic

[Hepatitis-B reactivation during treatment with tumor necrosis factor-α blocker adalimumab in a patient with psoriasis arthritis].

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METHODS A 66-year-old man with acute fever, myalgia, arthralgia, restricted movement and neck stiffness was admitted to our emergency unit. Three weeks earlier treatment with adalimumab, a tumor necrosis factor(TNF)-alpha antagonist was started by the patient's dermatologist because of a psoriasis

Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis.

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A boy presented with lactic acidosis, hepatomegaly, hypoglycemia, generalised icterus, and muscle hypotonia in the first weeks of life. At the age of 2 months, neonatal giant cell hepatitis was diagnosed by light microscopy. Electron microscopy of the liver revealed an accumulation of abnormal

Congenital echovirus 21 infection causing fulminant hepatitis in a neonate.

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Enteroviral infection in pregnancy is common and there is growing evidence relating it to congenital anomalies and neonatal mortality. Neonatal disease may range from unapparent infection to overwhelming systemic illness. Passively acquired maternal serotype specific antibodies determine the

Isolation of cytomegalovirus from the amniotic fluid during the third trimester.

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A case is presented in which cytomegalovirus was isolated from the amniotic fluid at 36 weeks' gestation in a pregnancy complicated by cytomegalovirus hepatitis at 10 weeks of gestation. Abnormalities noted in the newborn infant included an undescended testis, right equinovarus, and hypotonia. All

Mosaic trisomy 14 with hepatic involvement.

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Mosaic trisomy 14 in liveborns is rare and may be accompanied by uniparental disomy in the euploid cell line. We report the case of a 6 month old male with growth failure, microcephaly, macroglossia, developmental delay, hypotonia, congenital heart disease, neonatal hepatitis, cryptorchidism,

Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.

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Zellweger syndrome (ZS) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. Herein, a 3-month-old female with ZS is presented who was referred because of

Detection of cytomegalovirus in infant cerebrospinal fluid by conventional PCR, nested PCR and PCR-Digene.

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The possibility of amplification of human cytomegalovirus (HCMV) DNA in cerebrospinal fluid (CSF) for the diagnosis of HCMV central nervous system (CNS) infection in infants was studied. Single-step PCR, nested PCR and PCR-Digene were used to assay CSF specimens from 37 patients. Criteria for

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.

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Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric

Infantile diffuse cerebral degeneration with hepatic cirrhosis.

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Four children had progressive degeneration of the cerebral cortex, with hepatic cirrhosis. They and four previously described ones, are representative of a distinct form of hepatocerebral degeneration. Onset of the neurological disorder is between ages 1 and 3 years, at times with mild developmental

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

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The aim of this study was to illustrate the difficulties in establishing a diagnosis of mitochondrial respiratory chain (MRC) disorders based on clinical grounds in combination with intermediate activities of the MRC enzyme complexes. We reviewed retrospectively all medical and laboratory records of

[Liver pathologies due to peroxisome disorders].

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Peroxisomes or microbodies are peculiar subcellular organelles with an important role in the metabolism of a variety of different organic compounds. Particularly they are an important site of bile acids synthesis. Some hepatic diseases, mainly cholestatic, can to be reconnected at disorders of bile

Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome.

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Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder characterized by multiple congenital anomalies and various degrees of cognitive deficits. This condition results from a deficiency of 7-dehydrocholesterol reductase, a critical step in cholesterol biosynthesis. Children with

Hypotonic-hyporesponsive episodes reported to the Vaccine Adverse Event Reporting System (VAERS), 1996-1998.

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BACKGROUND A hypotonic-hyporesponsive episode (HHE) is the sudden onset of hypotonia, hyporesponsiveness, and pallor or cyanosis that occurs within 48 hours after childhood immunizations. This syndrome has been primarily associated with pertussis-containing vaccines administered to children <2 years

A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.

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Deoxyguanosine kinase (DGUOK) catalyzes the first step of the mitochondrial deoxypurine salvage pathway, the phosphorylation of purine deoxyribonucleosides. Mutations in the DGUOK gene have been linked to inherited mtDNA depletion syndromes, neonatal liver failure, nystagmus, and hypotonia.

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