retinitis pigmentosa/seizures

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Syndrome of myopathy, short stature, seizures, retinitis pigmentosa, and cleft lip.

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A five-year-old boy is presented with an undifferentiated myopathy, retinitis pigmentosa, incomplete cleft lip, short stature (less than third percentile), mild delay in development, and seizures. To date, no etiology or pathogenetic mechanism has been discovered to account for these, and no similar

[A case of spinocerebellar ataxia with retinitis pigmentosa, deafness, seizure and EEG abnormality (author's transl)].

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Familial tapetoretinal degeneration and epilepsy.

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Tapetoretinal degeneration is described in two siblings in association with generalized major motor seizures and intellectual impairment. Neither of these patients have the characteristic dysmorphic features or biochemical abnormalities seen in previously described cases, which are reviewed.

[A case of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) with a T-to-C point mutation at nt 8993 of mitochondrial DNA].

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We report a case of NARP with a T-to-C point mutation at nt 8993 of mitochondrial DNA. A 37-year old man with mild mental retardation, retinitis pigmentosa, and clonic-tonic seizure was admitted to our hospital. The neurological examination revealed scanning speech, dystonic neck turning to the left

Petaloid-pattern pigmentary retinopathy: a novel case report.

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We report the case of a 6-year-old girl with an unusual petaloid-pattern pigmentary retinopathy associated with nyctalopia and reduction of vision which had been invariably static over the past 5 years. We performed a comprehensive ophthalmic examination including fundoscopy, autofluorescent

Hashimoto's encephalopathy in association with retinitis pigmentosa - First reported case

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Hashimoto's Encephalopathy (HE), also known as steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT), is a proteiform disorder known for its wide spectrum of presentations from subtle neuropsychiatric manifestations, movement disorders, seizures, stroke-like episodes to

NARP syndrome and adult-onset generalised seizures.

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The neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a maternally inherited disorder attributable to a heteroplasmic mtDNA point mutation. Catastrophic epilepsy may accompany severe, early onset forms of NARP, but seizures seem to be rare in cases with adolescent and

Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency.

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An eight-week-old infant, the fourth child of consanguineous parents presented with intractable neonatal seizures. The mother had two previous miscarriages. The infant initially presented on day one with multifocal myoclonus, complex partial and generalised tonic-clonic seizures. On examination,

Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14.

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Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia,

Acanthocytosis and neurological disorders.

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Acanthocytosis occurs because of ultrastructural abnormalities of the erythrocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In

Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

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We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The

Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias.

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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

Presumed topiramate retinopathy: a case report.

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BACKGROUND We report a case of peripheral pigmentary retinopathy and visual field loss following topiramate use for uncontrolled seizures. Such side effects have not been well documented despite the increasing use of topiramate in the past 10 years. A thorough search of available English literature

Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation.

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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive syndrome that affects the tight junction proteins claudin-16 and claudin-19 in the thick ascending limb. In patients with claudin-19 mutations, additional symptoms such as visual impairment and other

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

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