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10 Possible Causes for Agenesis of Corpus Callosum, Central Sharp-and-Slow-Waves, Failure to Thrive

  • Wolf-Hirschhorn Syndrome

    Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas[ncbi.nlm.nih.gov] […] of the corpus callosum, bilateral renal hypoplasia, and two atrial septal defects.[ncbi.nlm.nih.gov] Clinical manifestations of WHS include intrauterine growth restriction, failure to thrive in the neonatal period that is present simultaneously with hypotonia, typical "Greek[ncbi.nlm.nih.gov]

  • Miller Dieker Syndrome

    Poor feeding leads to a failure to thrive and increases the risk of pneumonia because the infants can accidentally inhale baby formula into their lungs.[checkorphan.org] The proband was determined at birth owing to the presence of multiple congenital anomalies, including low birth weight, microcephaly, agenesis of the corpus callosum, lissencephaly[ncbi.nlm.nih.gov] Failure to thrive, feeding difficulties, seizures and decreased spontaneous activity are often seen. Death usually occurs in infancy and childhood.[en.wikipedia.org]

  • Early Infantile Epileptic Encephalopathy Type 3

    Inter-ictally, clusters of sharp-slow wave focal discharges maximum around the left Rolandic regions (left). They became continuous during natural sleep (right).[slideshare.net] Clinical onset may be at birth with deafness and blindness, severe hypotonia and failure to thrive [38]. A retinopathic "leopard spot" is a pathognomonic sign.[graphyonline.com] Distinguishing features include agenesis of the corpus callosum in patient 1, and weight loss exceeding 10%, associated with metabolic acidosis, in patient 2.[ncbi.nlm.nih.gov]

  • Pachygyria-Mental Retardation-Seizures

    In addition, bilaterally independent sharp and slow wave complexes were recorded from fronto- central regions (2 patients) and from temporal regions with predominance over[docslide.com.br] Other symptoms may include: difficulty feeding failure to thrive intellectual impairment malformed fingers, toes, or hands muscle spasms psychomotor impairment seizures trouble[healthline.com] […] of corpus callosum is evident.[universeradiology.com]

  • Early Infantile Epileptic Encephalopathy Type 2

    Inter-ictally, clusters of sharp-slow wave focal discharges maximum around the left Rolandic regions (left). They became continuous during natural sleep (right).[slideshare.net] […] to thrive Mood swings Abnormality of lower lip Infantile encephalopathy Short attention span Hemifacial hypoplasia Language impairment Lumbar kyphoscoliosis Thoracolumbar[mendelian.co] […] of the corpus callosum in a family affected with X-linked mental retardation 26 ; however, both our patients with an expansion of 11 alanine residues in the first polyalanine[ncbi.nlm.nih.gov]

  • Benign Adult Familial Myoclonic Epilepsy

    The EEG in BRE has distinctive, high-amplitude, diphasic spikes or sharp waves with a prominent slow wave, in the midtemporal (T3, T4) and central (C3, C4) regions (Fig. 5[euroformhealthcare.biz] […] to thrive.[amedeo.com] Agenesis of the corpus callosum Dorothy Jones-Davis, Yolanda Lau, Elliott Sherr / Jones Davies 48. Polymicrogyria and schizencephaly Renzo Guerrini, Carman Barba 49.[shorvon.eu]

  • Pitt-Hopkins Syndrome

    Focal spikes slow/slow-and-sharp-wave activity can be seen in central and occipital areas.[ncbi.nlm.nih.gov] Other signals picked up as first signs by parents were failure to thrive, gastrointestinal problems (such as reflux, feeding problems, vomiting, constipation), and other symptoms[ojrd.biomedcentral.com] The most common findings include white matter abnormalities such as hypoplasia/agenesis of the corpus callosum and white matter hyperintensity in the temporal poles, as well[ncbi.nlm.nih.gov]

  • Northern Epilepsy

    Although called centrotemporal spikes , these are mainly high amplitude sharp and slow wave complexes localised in the C3/C4 (high central) in 30 % of patients and C5/C6 ([omicsonline.org] […] to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter A #175100 Familial adenomatous polyposis 1 (FAP1) M #614937 Familial Cortical Myoclonus[biochemgenetics.ca] […] of the Corpus Callosum with Peripheral Neuropathy (Andermann Syndrome) Alport Syndrome, Autosomal Recessive Antley-Bixler syndrome Argininosuccinic aciduria Arthrogryposis[genpathdiagnostics.com]

  • Rolandic Epilepsy - Speech Dyspraxia Syndrome

    Although called centrotemporal spikes, these are mainly high amplitude sharp and slow wave complexes localised in the C3/C4 (central) or C5/C6 (midway between central and[pediatricneurology.wordpress.com] […] to thrive.[mendelian.co] Although called centrotemporal spikes, these are mainly high amplitude sharp and slow wave complexes localised in the C3/C4 (high central) in 30 % of patients and C5/C6 (low[omicsonline.org]

  • Early Infantile Epileptic Encephalopathy Type 28

    Inter-ictally, clusters of sharp-slow wave focal discharges maximum around the left Rolandic regions (left). They became continuous during natural sleep (right).[slideshare.net] […] basal ganglia Developmental stagnation Nausea Generalized seizures Neurodegeneration Neuronal loss in central nervous system Gliosis Abnormality of the eye Vomiting Milia Failure[mendelian.co] […] of corpus callosum, arachnoid cyst, hemiatrophy, delayed myelination and posterior falcine bleed in one case each.[indianpediatrics.net]

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