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adrenoleukodystrophy/نوبة

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الصفحة 1 من عند 58 النتائج

Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literature.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
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 seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
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

X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
X-linked adrenoleukodystrophy (ALD) leads to demyelination of the nervous system, adrenal insufficiency and accumulation of long-chain fatty acids. Most young patients with X-linked ALD develop seizures and progressive neurologic deficits, and die within the first two decades of life. We present the

[Anesthetic management of a patient with adrenoleukodystrophy].

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
Adrenoleukodystrophy (ALD) is a genetic disorder with demyelination of the central nervous system and adrenal insufficiency. A 24-year-old man with ALD was scheduled for dental treatment under general anesthesia. He was diagnosted as having ALD at the age of 5. Past medical history included

Rare Spontaneous Attenuation of Childhood Inflammatory Cerebral Adrenoleukodystrophy

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
X-linked adrenoleukodystrophy (ALD) is a neurodegenerative peroxisomal disorder with variable clinical phenotypes. Childhood cerebral ALD (CCALD) is at the most severe end of the disease spectrum. In CCALD, the clinical manifestations include increasing deficits in behavior, vision, hearing,

[Clinical characteristics of X-linked adrenoleukodystrophy].

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
OBJECTIVE X-linked adrenoleukodystrophy (ALD) is a genetically determined disorder that involves the nervous system white matter, axons, adrenal cortex and testes. The typical clinical manifestations are progressive psychomotor regression, vision and/or auditory impairment and adrenal insufficiency.

A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
X-linked adrenoleukodystrophy(X-ALD) is a rare X-linked recessive metabolic disorder. The mutations in the ATP Binding Cassette Subfamily D Member 1 (ABCD1) gene account for the underlying molecular mechanism. Herein, we present two siblings with X-ALD due to a missense, presumably

[X-linked adrenoleukodystrophy--2 case reports].

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
Cases of a ten-year-old boy with childhood cerebral adrenoleukodystrophy (ALD) and a 22-year-old youngster with adrenomyeloneuropathy (AMN) are reported. ALD is an inherited, X-linked perixisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). Neurological symptoms

[Frontal type adrenoleukodystrophy: the progress of the white matter lesion--a neuroradiological and pathological study].

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
We studied the correlation between neuroradiological findings and pathological observations of white matter lesions in a patient with frontal type adrenoleukodystrophy. A 41-year-old man developed schizophrenic symptoms and generalized convulsions at the age of 40. Examination revealed baldness,

New form of adrenoleukodystrophy.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
Male and female siblings demonstrated similar facial features and had seizures from birth. Neurologic development, which was delayed, began to deteriorate at 1 year. Sudden death occurred at 2 8/12 and 2 3/12 years of age associated with respiratory infections. Tanning of the skin was noted 2 months

[Clinical picture of transitional forms between multiple and diffuse sclerosis].

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
A female patient is described in whom the disease clinical picture, as regards the localization of the multiple lesions in the nervous system (optic nerves, pyramid and cerebellar paths), the undulatory course of the process, and the characteristic manifestations (epileptic seizures, intellect

Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
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

Anaesthetic management of an adult patient with X-linked adrenoleukodystrophy.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
OBJECTIVE Adrenoleukodystrophy (ALD) is a rare genetic disorder. Findings include various central nervous system problems in addition to adrenal insufficiency. We present a case of an adult man with X-linked ALD undergoing surgery. METHODS A 40-yr-old man with X-linked ALD presented with an

Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysis.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
Adult onset cerebral X-ALD (AOCALD) is a rare disease, but should be considered an important differential diagnosis in adults presenting with leukencephalopathy. We here report the case of a 40-year-old man with a history of progressive cognitive decline who presented with a first-time seizure.

Therapeutic plasma exchange in treatment of adrenoleukodystrophy.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
Adrenoleukodystrophy (ALD) is an X-linked disorder of metabolism of very long-chain fatty acids (VLCFA) with a frequency of up to 1:20,000 in males. VLCFA C 24:0 and C 26:0 accumulate in the cholesterol ester and ganglioside fraction in plasma and red cells. Symptoms of ALD are ataxia, loss of
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