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diverticulum/crise épileptique
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[A case of Menkes' kinky hair disease with a renal calculus and diverticula of the bladder].
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Menkes' kinky hair disease is a poor prognostic congenital disease with X-linked recessive inheritance. This disease is clinically characterized by seizures, friable hair, growth failure, mental retardation and others. Recently it has been known that this disease is also characterized by multiple
Congenital ventricular aneurysm and diverticulum in children.
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Clinical profiles were analysed of 18 children with congenital ventricular aneurysm (CVA) and diverticulum (CVD) (nine with CVA and nine with CVD). Of 18 children, only six had any symptoms, consisting of chest discomfort, palpitation, or convulsion. Heart murmurs were heard in nine of the 18
[Lateral ventricle diverticulum as a variant of hydrocephalus evolution].
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A clinical case of a 12 year-old girl with hydrocephalus complicated by rare condition, lateral ventricular diverticulum, is reported. Progression of the diverticulum was followed up according to MRI. The diverticulum of the lateral ventricular wall has emerged in the interval of 1 year (14 months
[Case report : respiratory care for anesthesia in a patient with Menkes syndrome and micrognathia].
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Menkes disease is a rare sex-linked disorder of copper metabolism, characterized with several multiple organ dysfunctions. It is frequently associated with seizure disorders, mental retardation, and urologic abnormalities. It may also have some serious respiratory complications, such as upper airway
Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.
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To delineate further the clinical spectrum of Menkes disease, an X-linked recessive disorder of copper transport, we studied 4 related males, ranging in age from 4-38 years, with a unique phenotype that combines manifestations of classical and mild Menkes disease and occipital horn syndrome (OHS).
[Trichopoliodystrophy or Menkes disease].
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Trichopoliodystrophy (also known as Menkes' kinky or steely hair disease), a recessive sex-linked syndrome, is characterized by severely retarded mental and physical development, convulsions, a particular phenotype and abnormalities of the hair, bones and arteries. Very low levels of copper and
Urological Problems in Patients with Menkes Disease.
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Menkes disease: A rare disorder.
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Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened
Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder.
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Non-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis,
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case.
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Occipital horn syndrome (OHS, Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes' disease. Unlike Menkes' disease, most patients with OHS have mild submentality. We report a case of OHS with
[Menkes' kinky hair disease: report of 2 cases].
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Menkes' kinky hair disease (trichopoliodystrophy) is a rare inherited X-linked recessive disease with an incidence of about 1:35,000, and is rare reported previously in Taiwan. We present 2 cases with typical features including sparse, coarse and stubby, kinky hair, depigmented skin, pudgy face,
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