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blepharitis/crise epiléptica
O link é salvo na área de transferência
3 resultados
[Neuromeningeal hypodermyiasis complicated by hydrocephaly. Value of nuclear magnetic resonance imaging].
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A 9-year old country boy developed blepharitis with inflammation of the face and, 1 month later, eosinophilic meningitis with paralysis of 3 limbs and of an abducent nerve. Nuclear magnetic resonance imaging of the central nervous system disclosed a lesional signal beneath the floor of the 4th
Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference!
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A 2-month-old male infant, born of second degree consanguineous parentage, presented with seizures not responding to phenytoin and phenobarbitone. His perinatal period had been uneventful and there was no family history of seizures. On examination, he had failure to thrive, perioral and perianal
Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
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NGLY1-related disorder is a newly described autosomal recessive condition characterized by neurological, hepatic, ophthalmological findings and associated with dysmorphic features, constipation and scoliosis. It is caused by mutations in NGLY1, which encodes an enzyme, N-glycanase 1, involved in
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