optic nerve hypoplasia/επιληπτική κρίση

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Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia.

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This report describes gelastic seizures in patients with optic nerve hypoplasia and hypothalamic dysfunction without hypothalamic hamartoma. All participants (n = 4) from the optic nerve hypoplasia registry study at Children's Hospital Los Angeles presenting with gelastic seizures were included. The

Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency.

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A newborn male with mitochondrial complex I deficiency suffered from neonatal epileptic seizures, which later developed into infantile spasms. The infant was blind due to aplasia of the retinal vessels and hypoplasia of the optic nerve. There was congenital lactic acidosis, which persisted in later

Optic nerve hypoplasia associated with absent septum pellucidum and hypopituitarism.

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Five children had bilateral optic nerve hypoplasia, absent septum pellucidum, and hypopituitarism. Absence of the septum pellucidum was shown by computed axial tomography. All of the children were first-born. One of the children was definitely not mentally retarded and one at age 7 months was

Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia.

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OBJECTIVE It is essential to identify hypopituitarism in children with optic nerve hypoplasia (ONH) because they are at risk for developmental delay, seizures, or death. The purpose of this study is to determine the reliability of neurohypophyseal abnormalities on magnetic resonance imaging (MRI)

Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia.

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OBJECTIVE Optic nerve hypoplasia (ONH) is a heterogeneous disease with variable findings of pituitary insufficiency, CNS and neurodevelopmental abnormalities. We characterized the spectrum of endocrinopathy in a cohort of children with ONH and attempted to correlate the presence of different midline

Traumatic porencephalic cyst of the brain.

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BACKGROUND A porencephalic cyst is a cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. It is a rare condition probably caused by vascular occlusion resulting from an insult during fetal development or an injury occurring

[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

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

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Congenital clubfoot is a heterogeneous disorder that can result in functional disability, deformity, and pain if left untreated. Although the etiology is considered multifactorial in the majority of cases, a 17q23.1–q23.2 duplication has been reported in families with congenital clubfoot

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

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BACKGROUND Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. METHODS A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure

Nystagmus secondary to drug exposure in utero.

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OBJECTIVE To report the occurrence of nystagmus in children exposed to opiates and/or benzodiazepines during pregnancy, and to describe the associated ocular and systemic findings. METHODS Clinical examination and casenote review of 14 children with nystagmus whose mothers had misused opiates and/or

Wide cavum septum pellucidum: a marker of disturbed brain development.

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A wide cavum septum pellucidum defined as a separation of greater than 1 cm of the leaves occurs uncommonly. Nine children with wide cavum septum pellucidum were studied; 8 were abnormal. Observed abnormalities included cognitive impairment (8), seizures (4), hypoplasia of the corpus callosum (4),

Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.

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Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures,

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.

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Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical

Squalene Synthase Deficiency

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Squalene synthase deficiency (SQSD) is a rare inborn error of cholesterol biosynthesis with multisystem clinical manifestations similar to Smith-Lemli-Optiz syndrome. Key clinical features include facial dysmorphism, a generalized seizure disorder presenting in the neonatal period,

Septo-optic dysplasia/de Morsier's syndrome.

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Septo-optic dysplasia (SOD)/de Morsier's syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities. Hypopituitarism, hypothyroidism, hypogonadism, and adrenal insufficiency can lead to severe hypoglycemia, adrenal crisis, seizures, and

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