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103 Possible Causes for Lethargy, Variable Psychomotor Retardation

  • Pallidopyramidal Syndrome

    Onset started with general weakness, muscle stiffness and lethargy and progressed rapidly to a deterioration of motor function accompanied by involuntary jerky movements,[cags.org.ae] Affected patients exhibit a variable clinical picture that frequently includes psychomotor retardation or regression, recurrent episodes of vomiting, failure to thrive, signs[ajnr.org] Autistic behavior Difficulty running Sensorineural hearing impairment Visual impairment Optic atrophy Blindness Abnormality of the nervous system Abnormality of the eye Lethargy[mendelian.co]

  • Leigh's Disease

    A 7-month-old boy presented clinically with vomiting, lethargy, respiratory difficulty, deteriorated consciousness, and hypotonia.[ncbi.nlm.nih.gov] Clinical presentation is variable; patients often exhibit psychomotor retardation, vomiting, failure to thrive, and signs of brain stem and basal ganglia dysfunction. 4 Ophthalmologic[healio.com] Clinical findings included irregular breathing, lethargy, and inability to feed.[ajnr.org]

  • Isovaleric Acidemia

    This report concerns an infant who presented at 10 days of age because of lethargy, poor feeding, hypothermia, cholestasis, and thrombocytopenia, leukopenia, and profound[ncbi.nlm.nih.gov] Most patients with chronic intermittent IVA have normal psychomotor development, but some have developmental delay and mild or even severe mental retardation.[e-imd.org] Isovaleric acidemia (IVA) is characterized by periodic vomiting, lethargy, coma, ketoacidosis and a 'sweaty feet' odor.[ncbi.nlm.nih.gov]

  • HMG-CoA Lyase Deficiency

    The clinical presentation of an acidotic attack is lethargy, hyperpnoea, tachypnoea and seizures, either at birth (two infants), following first feeding (in five infants),[ncbi.nlm.nih.gov] Some patients develop acute life-threatening cardiopulmonary symptoms soon after birth, whereas others have a more chronic picture with psychomotor retardation, hypotonia,[genico.ch] The disease is characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures.[ncbi.nlm.nih.gov]

  • Argininosuccinic Aciduria

    If untreated, worsening lethargy, seizures, coma and death may occur. Late-onset ASA is usually triggered by an acute infection, stress or after high protein intake.[orpha.net] The characteristic symptoms are either those of overwhelming metabolic disease in the newborn period, or variable psychomotor retardation.[ncbi.nlm.nih.gov] Symptoms of argininosuccinic aciduria include: Lethargy Loss of appetite Erratic breathing Poorly controlled body temperature Seizures Coma Hepatomegaly Hypotonia Apnea If[stlouischildrens.org]

  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    Consequently, these fatty acids are converted to energy, which can lead to some of the characteristics of LCHAD, such as lethargy and hypoglycemia.[ivami.com] Some patients develop acute life-threatening cardiopulmonary symptoms soon after birth, whereas others have a more chronic picture with psychomotor retardation, hypotonia,[genico.ch] Home Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency Long-chain 3-hydroxyacyl-coA dehydrogenase (LCHAD) deficiency is an inherited disease characterized by lethargy,[genetics.mytestingoptions.com]

  • Methylmalonic Acidemia with Homocystinuria Type cblJ

    […] deficits described in HMMAJ patients is less broad than that reported for individuals suffering from other forms of homocystinuria with methylmalonic acidemia and is limited to lethargy[symptoma.com] A variable degree of clinical improvement was recorded in all patients, although all the children exhibited variable residual neurologic impairment with psychomotor retardation[ajnr.org] […] growth Retarded growth [ more ] 0001510 Homocystinuria High urine homocystine levels 0002156 Hyperhomocystinemia Elevated blood homocystine 0002160 Inguinal hernia 0000023 Lethargy[rarediseases.info.nih.gov]

  • Intermittent Maple Syrup Urine Disease

    The patients had episodes with neurological symptoms including lethargy and/or ataxia during childhood infections.[ncbi.nlm.nih.gov] Optic atrophy Dementia & Psychomotor retardation: Some patients Laboratory Brain MRI: White matter lesions; Cerebral & Basal ganglia atrophy 3-Methylglutaconic aciduria Metabolic[neuromuscular.wustl.edu] These precipitating factors can lead to a potentially fatal episode of acute decompensation with anorexia, nausea, vomiting, lethargy, ataxia (in infants/toddlers), cognitive[orpha.net]

  • Mitochondrial Trifunctional Protein Deficiency

    Patient 4, a 25-month-old baby, manifested recurrent episodes of lethargy, metabolic acidosis, elevated liver enzymes, and dark urine from the age of 10 months.[ncbi.nlm.nih.gov] Some patients develop acute life-threatening cardiopulmonary symptoms soon after birth, whereas others have a more chronic picture with psychomotor retardation, hypotonia,[genico.ch] As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and hypoglycemia.[wikidoc.org]

  • Methylmalonic Acidemia with Homocystinuria Type cblF

    Patients with methylmalonic acidemia with homocystinuria of all types can present with developmental delay, signs of megaloblastic anemia (pallor, fatigue, and anorexia), lethargy[orpha.net] A variable degree of clinical improvement was recorded in all patients, although all the children exhibited variable residual neurologic impairment with psychomotor retardation[ajnr.org] Babies born to mothers with acute fatty liver of pregnancy and HELLP syndrome Intermittent Late-Onset Acute Presentation Recurrent attacks of coma, strokes, or vomiting with lethargy[ommbid.mhmedical.com]

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