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Peroxisomes are organelles responsible for multiple metabolic pathways including the biosynthesis of plasmalogens and the oxidation of branched-chain as well as very-long-chain fatty acids (VLCFAs). Peroxisomal disorders (PDs) are heterogeneous groups of diseases and affect many organs with varying
Neonatal seizures are critical conditions because they are usually related to significant illnesses that require a specific therapy. Antepartum and peripartum seizures are very rare, and represent signs of prenatal-onset neurologic dysfunction. A review of the literature revealed that the main
Neonatal hypotonia, seizures beginning at 5 days, and severe retardation were noted in a girl with normal karyotype and biochemical evidence of impaired adrenal function. Postmortem examination at 14 months revealed malformative and destructive lesions of central gray and white matter, atrophy of
Peroxisomal diseases are rare (1:50,000), genetically determined disorders (autosomal recessive), systemic, multiorgan illnesses with prominent involvement of the nervous system, caused either by the failure to form or to maintain the peroxisome, or by a defect in the function of a single or
We present the case of an 8‑year-old female child with suspected peroxisomal disorder requiring general anesthesia for adenotomy, paracentesis and brainstem-evoked response audiometry. Peroxisomes are small intracellular organelles that catalyse key metabolic reactions. Peroxisomal disorders are a
A newborn baby girl developed seizures right after birth. On the fourth day, the baby was examined using diffusion sequence magnetic resonance imaging (MRI) and diagnosed to have neonatal adrenoleukodystrophy. Laboratory findings confirmed the diagnosis. This is the first case of neonatal
An infant with neonatal adrenoleukodystrophy experienced extreme hypotonia and virtually continuous convulsions at four months of age and died. Light and electron microscopic examination revealed evidence of myopathy and the presence of mitochondrial inclusions. Concentrations of very long-chain
OBJECTIVE
To clarify the electroclinical manifestation of epileptic seizures and the evolution of epilepsy in patients with peroxisomal diseases.
METHODS
Retrospective review of the medical records and EEGs of 14 patients with peroxisomal diseases: seven with Zellweger syndrome (ZS), two with
The authors present and discuss the care of a nine-month-old with neonatal adrenoleukodystrophy who required general anaesthesia for gastrointestinal endoscopy. Neonatal adrenoleukodystrophy is an inherited disorder of peroxisomal enzymes. Anaesthetic care may be affected by the presence of
Clinical, biochemical and morphological findings in a 16-month-old infant girl with pseudo-neonatal adrenoleukodystrophy are reported. The parents were first cousins and the baby was born at term, small for gestational age. The neonatal period was characterized by convulsions resistant to treatment,
In this paper, we describe a baby male born to healthy non-consanguineous parents presenting at birth with hypotonia and seizures. Additional salient clinical features included the development of glaucoma, the absence of significant facial dysmorphism and the absence of liver enlargement or renal
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
Neonatal adrenoleukodystrophy constitutes a distinct genetic disorder of autosomal recessive inheritance, and is distinguishable from the cerebro-hepato-renal syndrome of Zellweger and X-linked juvenile adrenoleukodystrophy, although all three conditions store very long chain fatty acids. Abnormal
BACKGROUND
Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot
A male infant with typical clinical and biochemical findings of Zellweger syndrome, but in whom hepatic peroxisomes were detected by electron microscopy, had profound hypotonia, hepatomegaly, typical facial appearance including large fontanelle and frontal bossing, convulsions, panaminoaciduria, and