amblyopia/crise epiléptica

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Photo-induced convulsion after using the translid binocular interactor.

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A 12-year-old boy with small-angle secondary exotropia and minimal amblyopia experienced photo-induced epilepsy after using the Translid Binocular Interactor, a device designed to treat several of the motor and sensory abnormalities of the eyes alternately with a bright flash at 10 cps. Whether or

[Ocular manifestations of arachnoid cysts in children: report of two cases].

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Arachnoid cysts are congenital benign intracranial collections of cerebrospinal fluid. Most arachnoid cysts are small and asymptomatic. They are usually located in the temporal fossa. Classically described complications result from compression of adjacent structures and include neurologic

Clinical diversity of hereditary Duane's retraction syndrome.

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OBJECTIVE To define the spectrum of ophthalmic manifestations of Duane's retraction syndrome (DRS) in a large family. METHODS Cross-sectional study of 110 among 114 living relatives in an extended family. METHODS History and ophthalmic examination obtained on all participants. METHODS Ocular

[Role of Ommaya reservoir in the management of neonates with post-hemorrhagic hydrocephalus].

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OBJECTIVE Intra-ventricular hemorrhage (IVH) is one of the most serious complications of preterm infants. Significant numbers of the surviving infants with severe IVH go on to develop post-hemorrhagic hydrocephalus (PHH). The management of PHH remains a very challenging problem for both

[Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome].

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Objective: To investigate the clinical features, laboratory characteristics and genetic diagnosis of Kabuki syndrome (KS). Methods: Between September 2014 and September 2016, seven children with clinically diagnosed KS from the neurology department, Beijing Children Hospital, Capital Medical

[Congenital retinocephalic facial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome].

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The congenital retinocephalic facial vascular malformation syndrome is characterized by unilateral, nonhereditary retinal and cerebral arteriovenous malformations (AVMs) and is occasionally associated with orbital vascular changes. Typical signs are facial and oral mucosal vascular changes, rarely

Prader-Willi syndrome: clinical and molecular cytogenetic investigations.

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Prader-Willi syndrome is characterized by hypotonia and feeding difficulties in the neonatal period, with the childhood development of hyperphagia leading to obesity, developmental delay, hypogonadism, short stature and small hands and feet. Correct diagnosis of Prader-Willi syndrome is important

Ocular defects in photosensitive epilepsy.

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Patients with photosensitive epilepsy are susceptible to seizures due to photoparoxysmal response (PPR). This response adversely precipitates factors that modify the functional status of the visual system. Such factors may or may not be evident superficially, but may lead to ocular defects due to

[Complications in the evolution of haemangiomas and vascular malformations].

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The differentiation of haemangiomas and vascular malformations is histological, clinical and prognostic. Although the majority of haemangiomas evolve towards spontaneous resolution, as many as 10% of cases can develop complications with ulceration, pain and haemorrhaging. Besides, the localisation

Complex limbal choristomas in linear nevus sebaceous syndrome.

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OBJECTIVE This study aimed to describe the clinical and histopathologic findings in four patients with complex limbal choristomas associated with linear nevus sebaceous syndrome (LNSS), a rare disorder including nevus sebaceous, seizures, and mental retardation, and often accompanied by ocular

Macrocephaly with hamartomas: Bannayan-Zonana syndrome.

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Familial macrocephaly with mesodermal hamartomas is described as a distinct syndrome in nine individuals from four families. Constant manifestations include symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth deceleration. Speech and motor

[Neurologic sequelae of chronic alcoholism].

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Chronic alcohol abuse causes several distinct diseases of the central and peripheral nervous system. Widely known are the alcohol withdrawal syndrome, alcohol-induced epileptic seizures, alcoholic polyneuropathy and myopathy, and Wernicke's encephalopathy. Beside these complications, less common

Expanding the phenotypic spectrum of MBOAT7-related intellectual disability.

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MBOAT7 gene pathogenic variants are a newly discovered and rare cause for intellectual disability, autism spectrum disorder (ASD), seizures, truncal hypotonia, appendicular hypertonia, and below average head sizes (ranging from -1 to -3 standard deviations). There have been only 16 individuals

Unusual complications of heroin abuse: transverse myelitis, rhabdomyolysis, compartment syndrome, and ARF.

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BACKGROUND Heroin overdose can cause various rare neurological complications like spongiform leukoencephalopathy, seizures, stroke, toxic amblyopia, transverse myelopathy, mononeuropathy, plexopathy, acute inflammatory demyelinating polyradiculoneuropathy, rhabdomyolysis, compartment syndrome,

Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.

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BACKGROUND Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterised by the development of multiple nervous system tumours, ocular abnormalities, and skin tumours. Although classically considered a disease of adults, initial signs and/or symptoms may be evident in childhood and

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