RESUMO
We present the first mnemonic in Spanish, "PPIENSENLo," for alarm criteria in secondary headaches in children in order to facilitate their identification, diagnosis, and treatment. A search was performed across different electronic databases for a mnemonics that applied to clinical alarm criteria in secondary headaches in children. None were found in English or Spanish. This tool is perhaps useful both for clinical and teaching purposes.
Assuntos
Transtornos da Cefaleia Secundários/diagnóstico , Avaliação de Sintomas , Adolescente , Criança , Pré-Escolar , Educação Médica , Humanos , Lactente , Idioma , Educação de Pacientes como AssuntoRESUMO
BACKGROUND: Wieacker-Wolff syndrome is an ultra-rare disease with X-linked inheritance characterized by arthrogryposis, intellectual disability, microcephaly, and distal limb muscle atrophy. Ophthalmic abnormalities such as ptosis, strabismus, and oculomotor apraxia have been reported in half of the patients. Wieacker-Wolff syndrome female-restricted (WRWFFR) is an even rarer disease recently used for females with a more severe phenotype. MATERIALS AND METHODS: Clinical geneticist and ophthalmic examination, neuroimaging, and exome sequencing. RESULTS: A 4 years-old girl with developmental and language delay, microcephaly, camptodactyly, digital pads, and arthrogryposis was identified by the clinical geneticist. Ophthalmic examination revealed deep-set eyes, high hyperopic astigmatism in both eyes, and reduced retinal nerve fiber layer thickness measured by optical coherence tomography. Exome sequencing identified a novel, probably pathogenic variant in the ZC4H2 gene NM_018684.3:c.145A>T p. (Lys49*) in heterozygosis. DISCUSSION: WRWFFR is an ultra-rare disease with X-linked inheritance by variants in the ZC4H2 gene. This case reports a girl with a novel nonsense variant in the ZC4H2 gene and a severe phenotype; previous reports have identified WRWFFR in females with large deletions and nonsense mutations which could explain the manifestations in the current case report. A complete ophthalmic examination should be considered in patients with WRWFFR to detect the possibly associated optic nerve involvement and other previously described manifestations such as ptosis and strabismus.
Assuntos
Artrogripose , Deficiência Intelectual , Microcefalia , Estrabismo , Humanos , Feminino , Pré-Escolar , Artrogripose/genética , Microcefalia/genética , Doenças Raras , Deficiência Intelectual/genética , Nervo Óptico , Proteínas Nucleares , Peptídeos e Proteínas de Sinalização IntracelularRESUMO
Chaetomium sp. is a mold, member of the phylum Ascomycota. Clinical disease in humans is rare, particularly in children, for which only five cases have been reported. We report a 7-months-old female patient with a diagnosis of visceral heterotaxy syndrome who was admitted to a private center in Mexico. After two episodes of focal myoclonic seizure, a brain magnetic resonance imaging (MRI) revealed a right porencephalic cyst and a right frontal abscess with ventriculitis. Seventy-two hours after temporal abscesses drainage procedure, the culture showed a rapidly growing pale white fungal colony. Sequencing of internal transcribed spacer (ITS) and D1/D2 led to the identification of Chaetomium strumarium. Although Chaetomium sp. is a rare fungal infection in humans, clinicians should consider it as a plausible etiologic agent that can form brain abscess.
Assuntos
Feoifomicose Cerebral/diagnóstico por imagem , Chaetomium/patogenicidade , Síndrome de Heterotaxia/complicações , Micoses/diagnóstico por imagem , Antifúngicos/uso terapêutico , Encéfalo/diagnóstico por imagem , Chaetomium/genética , Feminino , Síndrome de Heterotaxia/microbiologia , Humanos , Lactente , Imageamento por Ressonância Magnética , México , Micoses/tratamento farmacológicoRESUMO
Neonatal encephalopathy (NE) is the most common etiology of acute neonatal seizures - about half of neonates treated with therapeutic hypothermia for NE have EEG-confirmed seizures. These seizures are best identified with continuous EEG monitoring, as clinical diagnosis leads to under-diagnosis of subclinical seizures and over-treatment of events that are not seizures. High seizure burden, especially status epilepticus, is thought to augment brain injury. Treatment, therefore, is aimed at minimizing seizure burden. Phenobarbital remains the mainstay of treatment, as it is more effective than levetiracetam and easier to administer than fosphenytoin. Emerging evidence suggests that, for many neonates, it is safe to discontinue the phenobarbital after acute seizures resolve and prior to hospital discharge.