diverticulum/seizures

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11 tulemused

[A case of Menkes' kinky hair disease with a renal calculus and diverticula of the bladder].

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Logi sisse

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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Logi sisse

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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Logi sisse

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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Logi sisse

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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Logi sisse

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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Logi sisse

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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Logi sisse

Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue abnormalities, and characteristic "kinky" hair. In

Menkes disease: A rare disorder.

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Logi sisse

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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Logi sisse

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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Logi sisse

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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Logi sisse

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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