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877 Possible Causes for Microcephaly, Progressive Loss of Vision

  • Neuronal Ceroid Lipofuscinosis

    A 7 years-old female patient with normal development until the age 12 months, developed Rett like clinical picture (psychomotor regression, microcephaly, stereotypic hands[] Most childhood forms of NCL are clinically characterized by progressive loss of vision as well as mental and motor deterioration, epileptic seizures, and premature death,[] Patients suffering from congenital NCL may present with microcephaly at birth. In general, the sequence of onset of symptoms may vary from patient to patient.[]

  • Cytomegalovirus Infection

    Typical ultrasound signs that should arouse suspicion of intrauterine CMV infection can be distinguished into CNS signs such as ventriculomegaly or microcephaly and extracerebral[] […] the central field Floaters The affected person usually notices vision loss on one side first, but it will progress to both sides.[] Possible signs and symptoms include: jaundice / hepatomegaly / splenomegaly microcephaly sensorineural deafness chorioretinitis petechiae mental retardation seizures The degree[]

  • Mucolipidosis

    The initial findings were microcephaly and metopic craniosynostosis. He had coarse facial features and dysostosis multiplex.[] vision loss.[] We described three unrelated Saudi children who presented with neonatal hyperparathyroidism, microcephaly, craniosynostosis, coarse facial features, cardiac involvement, and[]

  • Congenital Toxoplasmosis

    The main neuroimaging findings of congenital CMV infection included microcephaly, ventriculomegaly, and periventricular calcifications on US, as well as pachygyria revealed[] If the central structures of the retina are involved there will be a progressive loss of vision that can lead to blindness.[] Affected neonates are likely to feature microcephaly or macrocephaly accompanied by bulging fontanelles and abnormal ophthalmologic findings.[]

  • Retinitis Pigmentosa

    D102*)] in POC5, encoding the Proteome Of Centriole 5 protein, in a patient with RP, short stature, microcephaly and recurrent glomerulonephritis.[] A 35-year-old man presented with history of painless, progressive loss of vision in the left eye for the past 7 years.[] , see Autosomal recessive primary microcephaly TS , see Tourette syndrome TS , see Timothy syndrome TS , see Turner syndrome TSD , see Tay-Sachs disease TSEs , see Prion[]

  • Cockayne Syndrome

    Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration.[] The facies becomes characteristically wizened with progressive loss of fat; deep set eyes, thin nose, and vermillion of the lips are seen, with severe early dental caries.[] Cockayne syndrome (CS) is a rare disorder, characterised by small stature, microcephaly (having a small head) , developmental delay and premature pathological ageing.[]

  • Renpenning Syndrome

    In addition, we identified another family exhibiting microcephaly and MR ( fig. 1 B ).[] vision and hearing loss, spasticity, neurological deterioration associated with demyelination of the central nervous system and adrenal insufficiency ABCD1, Xq28 Aicardi[] […] central vision loss, night blindness, optic pale disc AR CNNM4 #217080 JOUBERT SYNDROME Pigmentary retinopathy, oculomotor apraxia or difficulty in smooth visual pursuits[]

  • Microcephaly

    Occasional cases develop normal intelligence and grow normally (apart from persistently small head circumference).[] Lacunae represent scleral depressions with the loss of overlying choroid and outer retina. Slow atrophic progression with loss of vision may occur over time.[] Microcephaly cannot be treated.[]

  • Mandibulofacial Dysostosis

    We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures.[] First three months: Ophthalmology examination to evaluate vision and perform examination of cornea. Continued monitoring of feeding progress occurs during this time.[] Abstract Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic[]

  • Macrocephaly

    Microcephaly was significantly associated with the presence of medical disorders.[] Seizures, loss of interest, and progressive paralysis begin after this together with loss of vision and hearing.[] Register Full-term newborns with congenital microcephaly and macrocephaly in Southwest Nigeria - 24 Hours access EUR 36.00 GBP 28.00 USD 45.00 Rental This article is also[]

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