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ichthyosis/epileptische aanval
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Bladzijde 1 van 53 resultaten
Xeroderma pigmentosum with versive seizures.
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A boy with group A xeroderma pigmentosum and a series of progressive neurologic complications developed versive seizures at 8 years of age. Electroencephalography at 6 years of age revealed no epileptic changes or focal abnormalities. He was seizure-free until versive seizures developed;
Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?
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A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The
[Seizures-ichthyosis-mental retardation].
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[Germ cell aplasia associated with symptomatic convulsions following early childhood brain damage and ichthyosis simplex].
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IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.
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Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures,
Convulsive episodes in patients with group A xeroderma pigmentosum.
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OBJECTIVE
To clarify the incidence of convulsive episodes in patients with group A xeroderma pigmentosum (XPA).
METHODS
By investigating the history of convulsive episodes of our 33 XPA patients through either their medical charts or direct interviews with their caretakers.
RESULTS
Five patients had
Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis.
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BACKGROUND
Sjogren-Larsson syndrome (SLS) is characterized by the triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. The hallmark of SLS is ichthyosis. We report a case and review the major differential diagnosis of SLS.
METHODS
A 21-year-old woman presented with
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy.
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Acute intermittent porphyria (AIP) and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an
IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.
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Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures,
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.
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Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis
A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.
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Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based
Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome.
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We describe an 18-month-old male infant suffering from the ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome and further delineate the clinical phenotype. Severe retardation of growth and psychomotor development, chill-like seizures, bronchial asthma, urticaria, a proneness to skin
Neurological manifestations in xeroderma pigmentosum.
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Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case,
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
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The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 males so far. We report on a man with congenital ichthyosis and alopecia with apparently normal development in early infancy. Photophobia and generalized myoclonicastatic
Holocarboxylase synthetase deficiency presenting as ichthyosis.
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Holocarboxylase synthetase deficiency is a rare autosomal recessive disorder of biotin metabolism. Clinical manifestations usually present within the first few days of life and include severe acidosis, feeding difficulties, breathing abnormalities, vomiting, seizures, progressive loss of
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