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الصفحة 1 من عند 16 النتائج

Anesthetic management of comprehensive dental restoration in a child with glutaric aciduria type 1 using volatile sevoflurane.

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Glutaric aciduria type 1 (GA1) is a rare, inherited mitochondrial disorder that results from deficiency of mitochondrial glutaryl-CoA dehydrogenase. Most patients develop neurological dysfunction early in life, which leads to severe disabilities. We present a 37-month-old girl with GA1 manifested as

Constantin Tsiminakis (1875-1942): Neurologist, Neuropathologist, Statesman.

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The article is a 75-year memorial tribute to the Greek neurologist, Constantin Tsiminakis (1875-1942). Coming from a family of physicians, Tsiminakis graduated from the University of Athens in 1897, and trained in Vienna under Nothnagel, Frankl-Hochwart, and Obersteiner. In 1905, he was appointed

Streptococcal exanthem in a blaschkolinear pattern: clinical evidence for genetic mosaicism in hypomelanosis of ito.

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Due to the presence of two different clones of cells in early embryogenesis, numerous congenital and acquired dermatoses have a linear distribution following the lines of Blaschko. Acquired inflammatory skin diseases are rarely observed in linear patterns. Our patient was born with macrocephaly,

Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.

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Glutaric aciduria type I (GA-I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a deficiency of glutaryl-CoA dehydrogenase. Glutaric, 3-OH-glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be

Infantile-onset arthritis and multisystem inflammatory disease: "a new syndrome".

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A case is presented with early-onset polyarthritis involving both large and small joints, prolonged fever, skin rash, hepatosplenomegaly, persistent cerebro-spinal fluid pleocytosis, brain atrophy, macrocephaly with ventricular dilatation, a persistently open fontanelle, lymphadenopathy,

Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss - Case report and literature review.

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Infant-onset bilateral sensorineural hearing loss is a key presenting symptom of the autoinflammatory cryopyrin-associated periodic syndrome. Other symptoms include periodic fever, cold-induced urticaria-like rash, chronic aseptic meningitis, polyarticular arthralgias, and renal AA amyloidosis.

[Olivo-ponto-cerebral hypoplasia--case report of a neurodegenerative disease manifesting at birth with a fatal outcome].

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We report on a boy with pontocerebellar hypoplasia Type II according to the classification of Barth. The clinical signs were noted at birth and consisted of muscular hypertonus, central hypopnoe requiring artificial ventilation, chorea, hyperthermia above 40 degrees C and myoclonic seizures

Neurofibromatosis type 1 diagnosed in a child based on multiple juvenile xanthogranulomas and juvenile myelomonocytic leukemia.

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An association between juvenile xanthogranuloma (JXG), neurofibromatosis type 1 (NF1), and juvenile myelomonocytic leukemia (JMML) has been described in the literature but has only been documented in approximately 20 cases. We diagnosed a patient with NF1 at 25 months of age, before any cutaneous

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.

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OBJECTIVE Megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare neurological deterioration disease. We aimed to clarify clinical and genetic features of Chinese MLC patients. METHODS Clinical information and peripheral venous blood of 20 patients and their families

Paroxysmal tonic upgaze of childhood with co-existent absence epilepsy.

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Paroxysmal tonic upgaze (PTU) is a childhood oculomotor syndrome of unclear etiology characterized by episodic tonic upward eye deviation with neck flexion. Neuroimaging findings are often normal and the electroencephalography during episodes is typically normal. We describe a 2-year-old boy who

Superimposed propionibacterium acnes subdural empyema in a patient with chronic subdural hematoma.

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The authors present a case of subdural empyema in a macrocephalic patient. A 23-year-old male was admitted due to headache and fever. One month ago, he had mild head injury by his coworkers. Physical examination showed a macrocephaly and laboratory findings suggested purulent meningitis.

Glutaric acidemia type 1.

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Glutaric acidemias comprise different disorders resulting in an increased urinary excretion of glutaric acid. Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the

A treatable neurometabolic disorder: glutaric aciduria type 1.

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Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and

Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy.

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The biochemical hallmark of glutaric aciduria type I (GA I) due to glutaryl-CoA dehydrogenase deficiency is the accumulation of glutaric acid, and to a lesser degree of 3-hydroxyglutaric and glutaconic acids. Abnormal metabolites vary from gross organic aciduria to only slightly or intermittently

Glutaric acidemia type 1: outcomes before and after expanded newborn screening.

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Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism. Patients may present with brain atrophy, macrocephaly, and acute dystonia secondary to striatal degeneration typically triggered by an infection, fever, and/or dehydration. This

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