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4,444 Possible Causes for Hydrocephalus, Non-Hemolytic Unconjugated Hyperbilirubinemia, Psychomotor Development Delayed

  • Alexander Disease

    We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age.[ncbi.nlm.nih.gov] The main characteristics of infantile and juvenile AxD include delayed psychomotor development or mental retardation, convulsions, macrocephaly, and predominant cerebral white[ncbi.nlm.nih.gov] The first MRI examination demonstrated obstructive hydrocephalus and cerebral white matter abnormalities (which were more prominent posteriorly).[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Crouzon Syndrome

    At birth, individuals with this disorder have craniosynostosis, ocular proptosis, midface hypoplasia, choanal atresia, hydrocephalus, and they experience the onset of acanthosis[ncbi.nlm.nih.gov] The small FM, especially its posterior part, is likely to play a key role in the physiopathology of hydrocephalus.[ncbi.nlm.nih.gov] A 53-year-old Japanese woman presented with mild mental retardation, short stature, hypertelorism, saddle nose, vertebral fusion, and hydrocephalus, implying an underlying[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Cerebellotrigeminal Dermal Dysplasia

    Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common.[ncbi.nlm.nih.gov] Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral[mendelian.co] […] hormone (GH) deficiency was ruled out in all patients, although one of them might have developed secondary GH deficiency due to partial hypopituitarism following severe hydrocephalus[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Early Infantile Epileptic Encephalopathy Type 6

    […] activated atom surface diffusion which takes into… Expand Chudley-McCullough syndrome is an autosomal recessive condition characterized by profound sensorineural deafness, hydrocephalus[semanticscholar.org] We report on a patient who developed, from 5 months of age, multiple seizure types, including myoclonic, associated with severe psychomotor delay, leading to the diagnosis[ncbi.nlm.nih.gov] , resulting from exacerbated hemolysis) Chronic, non-immune hemolytic anemia High mean corpuscular hemoglobin concentration (MCHC) Presence of spherocytes in the peripheral[centogene.com]

  • Acrocallosal Syndrome

    It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosal syndrome (ACS) or X-linked hydrocephalus[ncbi.nlm.nih.gov] The purpose of this report was to describe the case of a 7-year-old male child with acrocallosal syndrome who presented with a cleft lip and palate, hydrocephalus, a seizure[ncbi.nlm.nih.gov] An eight year old female with severe developmental delays, epilepsy, left postaxial polydactyly of the hand and abnormalities of brain development including hydrocephalus,[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Brandt Syndrome

    […] abnormalities, bowel atresia, hearing loss and major central nervous system abnormalities (dysplastic corpus callosum with a transected pituitary stalk, myelomeningocele with hydrocephalus[molecularautism.biomedcentral.com] Icterus intermittens juvenilis; Low-grade chronic hyperbilirubinemia; Familial non-hemolytic-non-obstructive jaundice; Constitutional liver dysfunction; Unconjugated benign[medlineplus.gov]

  • Congenital Disorder of Glycosylation Type 2D

    B4GALT1-CDG (CDG type IId) is a multisystem disease, characterized by dysmorphic features, hydrocephalus, hypotonia and blood clotting abnormalities (Hansske et al. 2002).[reactome.org] […] hypotonia, external strabismus, mild to moderate liver dysfunction, and delayed psychomotor development.[themedicalbiochemistrypage.org] Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus.[humpath.com]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Arnold Chiari Malformation

    Abstract Cortical biopsies of 13 patients with clinical diagnosis of congenital hydrocephalus, Arnold-Chiari malformation and hydrocephalus, and postmeningitis hydrocephalus[ncbi.nlm.nih.gov] Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development[ncbi.nlm.nih.gov] We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold-Chiari malformation and hydrocephalus and the first in a male.[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Leigh's Disease

    In children, the most common cause is hydrocephalus, which may be congenital or acquired (eg, third ventricle tumors).[healio.com] delay – a delayed development of intellect and motor ability Dystonia – uncontrollable muscle contractions causing repetitive twisting movements Epilepsy - The condition[lhsc.on.ca] Congen ita I Hydrocephalus Secondary to Intra-uterine Germinal Matr I n traven tr i c u I a I Haemorrhage Alan Hill Bohdan Rozdilsky Congenital hydrocephalus most commonly[docslide.net]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Communicating Hydrocephalus

    In the communicating hydrocephalus, there is a lack of reabsorption of CSF.[symptoma.com] […] in psychomotor development.[ncbi.nlm.nih.gov] We discuss communicating hydrocephalus in the current article, and the subsequent article deals with noncommunicating hydrocephalus. Copyright 2016 Elsevier Inc.[ncbi.nlm.nih.gov]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia

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