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43 Possible Causes for Anemia, Onset of Symptoms in First or Second Decade of Life, Psychomotor Retardation

  • Hallervorden-Spatz Syndrome

    There is an early onset classic form with symptoms of extrapyramidal disease beginning in the first decade of life and rapid progression to loss of ambulation in about 15[] Deficiency of CP causes moderate anemia with iron accumulation in liver, pancreas and basal ganglia. What causes the disease and how common is it?[] Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. Blood . 2002;100:22462248. Grisoli M, Piperno A, Chiapparini L, et al.[]

  • Congenital Muscular Dystrophy

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[] A CELLULE FALCIFORMI ANEMIA CONGENITA DISERITROPOIETICA ANEMIA DI FANCONI ANEMIA SIDEROBLASTICA ANGELMAN SINDROME DI ANGIOEDEMA DI QUINCK ANGIOMA ANOMALIA MITRALICA CONGENITA[] We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels.[]

  • Lymphopenic Agammaglobulinemia - Short-Limbed Dwarfism Syndrome

    Although a first manifestation in infancy and childhood is possible, symptoms typically become evident between the second and third decades of life.[] IMMUNODEFICIENCY WITH THYMOMA  Adults  Benign thymic tumour  Impaired cell mediated immunity  Agammaglobulinemia  Aplastic anemia 25.[] Syndrome; ANES OMIM:104130 Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality OMIM:203655 Alopecia Universalis Congenita; ALUNC OMIM:608509 Alopecia Universalis[]

  • Pseudo-Zellweger Syndrome

    Similarly, the single patient with sterol carrier protein X (SCPX, now named SCP2) deficiency first experienced neurologic symptoms in the second decade of life ( Ferdinandusse[] Fibrosis D D-Bifunctional Protein Deficiency Darier Disease Deafness, Autosomal Recessive Dentinogenesis Imperfecta Denys-Drash Syndrom Desmin Storage Myopathy Diamond-Blackfan Anemia[] Migrational abnormalities are the most likely causes of the severe seizures and psychomotor retardation associated with many types of peroxisomal disorders.[]

  • Autosomal Dominant Spastic Paraplegia Type 42

    onset, usually within the first or second decades of life.[] […] anomalies and short stature PIK3R1 autosomal dominant Short-Rib Thoracic Dysplasia 9 conorenal syndrome, Mainzer-Saldino Syndrome, SRTD9 IFT140 autosomal recessive Sickle Cell Anemia[] CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin[]

  • Kearns-Sayre Syndrome

    Signs and symptoms [ edit ] Individuals with KSS present initially in a similar way to those with typical CPEO. Onset is in the first and second decades of life.[] PMPS is a disorder of childhood characterized by refractory anemia, vacuolization of bone marrow cells, and exocrine pancreas dysfunction.[] View Article PubMed Google Scholar Ramaekers VT, Hausler M, Opladen T, Heimann G, Blau N: Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated[]

  • Myoadenylate Deaminase Deficiency

    Childhood onset weakness, contractures, and early cardiac involvement. Symptoms usually develop in the first or second decade of life.[] E70-E88 Metabolic disorders Type 1 Excludes androgen insensitivity syndrome ( E34.5- ) congenital adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias[] We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood[]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    Age of onset is in the second and third decades of life and rarely in the first. Recovery is usually complete and begins weeks to months after the onset of symptoms.[] […] sensory neuropathy type 6 Severe early-onset axonal neuropathy due to MFN2 deficiency Posterior polar cataract Charcot-Marie-Tooth disease type 4G Non-spherocytic hemolytic anemia[] retardation Oculoauriculofrontonasal syndrome Arts syndrome Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss[]

  • Tay-Sachs Disease

    Late-onset Tay-Sachs disease (chronic form) is a rare variant phenotype with appearance of first symptoms during the second or third decade of life. 4 A juvenile form is also[] Sickle cell anemia Sickle cell anemia is another of the most common, inherited, single-gene disorders in African-Americans.[] The patients was a 3-year-old boy with psychomotor retardation and attacked by seizures since 8 months of age. On funduscopy, the maculla presented a cherry-red spot.[]

  • Proximal Myopathy with Extrapyramidal Signs

    The prognosis is most favorable when the onset of symptoms occurs after the second decade of life.[] , aplastic anemia, thrombocytopenia Frequency not reported : Bone marrow granuloma, bone marrow depression Postmarketing reports : Pancytopenia, neutropenia, agranulocytosis[] A subacute form begins during early childhood with vomiting, hypotonia, growth and psychomotor retardation.[]

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