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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[ncbi.nlm.nih.gov] 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,[ncbi.nlm.nih.gov] 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.[symptoma.com]

  • 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[ncbi.nlm.nih.gov] […] the central field Floaters The affected person usually notices vision loss on one side first, but it will progress to both sides.[ada.com] Possible signs and symptoms include: jaundice / hepatomegaly / splenomegaly microcephaly sensorineural deafness chorioretinitis petechiae mental retardation seizures The degree[radiopaedia.org]

  • Mucolipidosis

    The initial findings were microcephaly and metopic craniosynostosis. He had coarse facial features and dysostosis multiplex.[ncbi.nlm.nih.gov] vision loss.[my46.org] We described three unrelated Saudi children who presented with neonatal hyperparathyroidism, microcephaly, craniosynostosis, coarse facial features, cardiac involvement, and[ncbi.nlm.nih.gov]

  • Congenital Toxoplasmosis

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

  • Retinitis Pigmentosa

    D102*)] in POC5, encoding the Proteome Of Centriole 5 protein, in a patient with RP, short stature, microcephaly and recurrent glomerulonephritis.[ncbi.nlm.nih.gov] A 35-year-old man presented with history of painless, progressive loss of vision in the left eye for the past 7 years.[ncbi.nlm.nih.gov] , 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[herenciageneticayenfermedad.blogspot.com]

  • Cockayne Syndrome

    Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration.[ncbi.nlm.nih.gov] 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.[ncbi.nlm.nih.gov] Cockayne syndrome (CS) is a rare disorder, characterised by small stature, microcephaly (having a small head) , developmental delay and premature pathological ageing.[amyandfriends.org]

  • Renpenning Syndrome

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

  • Microcephaly

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

  • Mandibulofacial Dysostosis

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

  • Macrocephaly

    Microcephaly was significantly associated with the presence of medical disorders.[link.springer.com] Seizures, loss of interest, and progressive paralysis begin after this together with loss of vision and hearing.[disorders.eyes.arizona.edu] 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[academic.oup.com]

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