RESUMO
Charcot-Marie-Tooth disease 1A (CMT1A) is the most common autosomal dominant demyelinating sensorimotor polyneuropathy. A few patients with Charcot-Marie-Tooth disease were reported in the literature to have epilepsy. We report on an African-American boy with CMT1A, with duplication of peripheral myelin protein 22 gene, who also developed intractable generalized tonic-clonic seizures and audiovisual hallucinations.
Assuntos
Doença de Charcot-Marie-Tooth/epidemiologia , Epilepsia Tônico-Clônica/epidemiologia , Alucinações/epidemiologia , Negro ou Afro-Americano , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/genética , Criança , Comorbidade , Duplicação Gênica , Humanos , Masculino , Proteínas da Mielina/genéticaRESUMO
Ataxia and oculomotor apraxia are seen in ataxia-telangiectasia, type 1 ataxia with oculomotor apraxia, and type 2 ataxia with oculomotor apraxia; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation. We report two American children, a sister and a brother, with type 1 ataxia with oculomotor apraxia and aprataxin gene mutations and briefly review type 1 ataxia with oculomotor apraxia.
Assuntos
Apraxias/genética , Ataxia/genética , Proteínas de Ligação a DNA/genética , Mutação/genética , Proteínas Nucleares/genética , Transtornos da Motilidade Ocular/genética , Apraxias/complicações , Ataxia/complicações , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Transtornos da Motilidade Ocular/complicações , Estados UnidosRESUMO
Seizures are rarely reported in association with deletion or duplication syndromes of the short arm of chromosome 5, or with chromosome 5 rings. We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain. Peripheral blood cytogenetic analysis indicates a mosaic karyotype with de novo deletion of varying amounts of 5p and pericentric inversion of the same chromosome 5. The deleted segment on 5p includes the region implicated in the catlike cry as well as sequences implicated in development of facial dysmorphism and mental retardation. This is the first case with Cri du chat syndrome associated with nonketotic hyperglycinemia, infantile spasms, hypsarrhythmia, and heterotopia.
Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 5/genética , Síndrome de Cri-du-Chat/patologia , Espasmos Infantis/patologia , Anormalidades Múltiplas/patologia , Encefalopatias/patologia , Coristoma/patologia , Bandeamento Cromossômico , Feminino , Humanos , Hiperglicinemia não Cetótica/patologia , Hibridização in Situ Fluorescente , Lactente , CariotipagemRESUMO
Most symptomatic patients with biotinidase deficiency have both neurologic and cutaneous symptoms and typical organic aciduria. We encountered a previously healthy girl with complete biotinidase deficiency presenting initially at age 17 months with episodic ataxia that became severe progressive ataxia in 2 months, but without skin rash or typical organic aciduria, which resolved completely with biotin treatment. Additionally, moderate sensorineural deafness also improved to the normal range. Even without typical cutaneous findings or organic aciduria, biotinidase deficiency should be considered among the differential diagnosis in any child presenting with either episodic or progressive ataxia or sensorineural deafness as prompt diagnosis and treatment with biotin may induce an excellent recovery.
