hypopigmentation/癲癇性発作

Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder often associated with mental retardation and epilepsy. We report on four new HI patients presenting with heterogeneous seizure manifestations and we review the literature concerning epileptic seizures in HI. At one extreme, there are

Incontinentia pigmentii acromians (IPA) is a bizarre, irregularly shaped leukoderma of the trunk and extremities, characterized by marble cake-like whorls or streaks of hypopigmentation whose distribution can be unilateral or bilateral. Mode of inheritance is most consistent with an autosomal

A male infant with trisomy 21 simultaneously showed clinical features of hypomelanosis of Ito and hemimegalencephaly, with related intractable epileptic seizures. The epileptic seizures were refractory to conventional antiepileptic drugs and persisted until the patient underwent functional

We studied 34 Spanish children with hypomelanosis of Ito. This disease has an incidence of 1 per 1000 new patients consulting a paediatric neurological service, or 1 per 8000-10,000 unselected patients in a children's hospital. About 94% of our patients show noncutaneous abnormalities. Mental

Moyamoya disease is a cerebrovascular disease characterized by stenosis and occlusion of the arteries of the circle of Willis, with abnormal telangiectatic collateral circulation at the base of the brain. An association between moyamoya disease and neurofibromatosis 1, a neurocutanoeus disorder, is

Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis characterized by multiple café au lait spots and hypopigmented ash-leaf macules intermingled with blotchy hyperpigmentation (1,2). Herein, we describe a Turkish FPHH patient with café-noir spots. A 16-year-old male

Hypomelanosis of Ito, initially referred to as incontinentia pigmenti achromians, is a rare neurocutaneous disorder. Hypopigmented lesions following the lines of Blaschko are usually the presenting feature. Multiple organ systems can be involved including brain, musculoskeletal, cardiovascular,

We studied a boy with macrocephaly, hypotonia, pigmentary retinopathy, unilateral whorled hypopigmented skin lesions, and seizures. Skin biopsy confirmed the clinical diagnosis of hypomelanosis of Ito. Postmortem examination at age 22 months revealed a severe neuronal migrational defect that altered

Waardenburg syndrome was diagnosed in a nine-month-old female infant with dystopia canthorum, broad nasal bridge, overdeveloped eyebrows, cutaneous hypopigmentation, and deafness. Seizures occurred, which makes this case unusual. CAT scan demonstrated wide subarachnoid spaces without ventricular

Hypomelanosis of Ito is a neurocutaneous syndrome characterized by hypopigmented lesions occurring in streaks and whorls located on the trunk, head or extremities. The associated neurological manifestations include mental retardation, seizures, language disabilities and motor system dysfunction.

Four-year-old boy presented with hypopigmented skin lesions since birth and seizure of recent onset. He had psychomotor retardation and hemi hypertrophy of left half of body. Computerised tomography scan findings were suggestive of hemimegalencephaly. On clinical grounds, a diagnosis of

Hypomelanosis of Ito is an uncommonly reported neurocutaneous syndrome with a peculiar pattern of swirling hypopigmentation. The skin markings in the lightly pigmented individual are not easily visualized in regular light but can be readily seen with the use of Wood's light. We describe a

A girl with hypomelanosis of Ito was studied both clinically and at postmortem examination. She manifested severe epilepsy early after birth. Magnetic resonance imaging demonstrated left-sided hemimegalencephaly. The seizures were secondarily generalized or unilateral initially, followed by

BACKGROUND Hypomelanosis of Ito was originally described as a purely cutaneous disease. Extracutaneous manifestations were described later, forming a neurocutaneous syndrome including skeletal, muscular, ocular and central nervous system symptoms.Hypomelanosis of Ito is characterized by a