Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known ...disease genes had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to the identification of 69 recessive genes not previously associated with disease, of which 33 are here described (SPDL1, TUBA3E, INO80, NID1, TSEN15, DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6, TBCK, FAM177A1, KIAA1109, MTSS1L, XIRP1, KCTD3, CHAF1B, ARV1, ISCA2, PTRH2, GEMIN4, MYOCD, PDPR, DPH1, NUP107, TMEM92, EPB41L4A, and FAM120AOS). We also encountered instances in which the phenotype departed significantly from the established clinical presentation of a known disease gene. Overall, a likely causal mutation was identified in >73% of our cases. This study contributes to the global effort toward a full compendium of disease genes affecting brain function.
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•Multiplex consanguineous families are rich sources for novel gene discovery•Prescreening these families for known disease genes accelerates gene discovery•33 novel candidate genes are reported in this study
Using whole-exome sequencing on prescreened multiplex consanguineous families, Alazami et al. describe the identification of 33 novel candidate genes for various neurogenetic conditions. Such families are rich sources for novel gene discovery.
The temporal relationship between convulsive seizures and the administration of β-lactams has long been recognized. A specific form of seizures, nonconvulsive status epilepticus, is less common and ...is often manifested by alterations in mental status without associated seizures. It is most commonly encountered in uremic patients and poses a diagnostic challenge because of its nonspecific clinical manifestations. In this report, we describe a child with chronic renal failure who developed nonconvulsive status epilepticus on two separate occasions after administration of a third-generation cephalosporin. Awareness of this potentially treatable condition is crucial to ensure appropriate and prompt medical therapy. To our knowledge, this is the first report of cephalosporin-induced nonconvulsive status epilepticus in a child with chronic renal failure.
Apneic episodes, quite common in newborns, are considered rare after age 1 month, when gastroesophageal reflux, cardiac arrhythmias, idiopathic central apnea, and seizures become included in ...differential diagnosis. Determining the cause of apnea is important as treatment differs significantly and can be harmful; Caffeine given for presumed idiopathic central apnea is reported to have precipitated seizures in 2 patients with apneic seizures. Two cases of partial seizures presenting as apnea in infants were studied. Interictal EEG was normal in 1 and showed focal spikes in the other. Video EEG monitoring (16 channel) showed focal ictal discharge originating from temporal areas clearly preceding onset of apnea in both patients. Because therapeutic options are sometimes diametrically opposite and interictal EEGs are particularly unreliable for diagnosis, we recommend video-EEG monitoring if there is any doubt about the diagnosis before starting treatment in patients with apneic episodes.
Hemisomatic spasms in children al-Shahwan, S A; Singh, B; Riela, A R ...
Neurology,
07/1994, Volume:
44, Issue:
7
Journal Article
Peer reviewed
We report two children with hemisomatic spasms caused by neoplastic lesions in the region of the ipsilateral cerebellopontine angle. In this condition, seizure misdiagnoses are frequent and EEGs are ...normal, even ictally. MRI should be performed early to prevent delay of appropriate treatment.
Infants and young children cannot describe symptoms of cardiogenic syncope accurately. If the attention in such cases is focused on the seizure activity that may follow, the patient will be treated ...inappropriately with anticonvulsants. We report such a presentation in 4 infants and young children (ages 6 to 48 months) with idiopathic long QT syndrome. All patients presented with recurrent seizures. All patients had a corrected QT interval (QTc) ≥ 0·4 s and none had deafness. The diagnosis was suspected by careful history-taking which revealed episodes of loss of consciousness before convulsions in all patients. All patients were treated successfully with propranolol and remained free of symptoms during the follow-up period of 1—2 years. Screening the other family members revealed a prolonged QTc in 9 out of 16, and a history of 3 sudden and unexplained deaths in two families.
We present a female neonate in her second week of life with borderline microcephaly, microphthalmia and progressive ascending sensory and motor deficit leading to complete paralysis with respiratory ...failure and death at 27 days of age. Neurological imaging revealed, in addition to cerebral atrophy, marked hydrocephalus, ependymal basal ganglia calcification, leptomeningeal enhancement, and patchy myelitis throughout the entire spinal cord. CSF cytological examination revealed the presence of a mononuclear pleocytosis with
Toxoplasma gondii trophozoites free in the CSF and within the cytoplasm of some macrophages, and a 100-fold raised protein content. To our knowledge, this is the first reported case of clinical acute spinal cord involvement in congenital toxoplasma infection, proven by the presence of toxoplasma trophozoite in the CSF.
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