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56 Possible Causes for Hyperventilation, Variable Psychomotor Retardation

  • Leigh's Disease

    Clinical presentation is variable; patients often exhibit psychomotor retardation, vomiting, failure to thrive, and signs of brain stem and basal ganglia dysfunction. 4 Ophthalmologic[] Episodic hyperventilation with resultant gasping and myoclonus was noted at the third attack but spontaneous respiration resumed soon with persistent ophthalmoplegia and truncal[] Affected patients exhibit a variable clinical picture that frequently includes psychomotor retardation or regression, recurrent episodes of vomiting, failure to thrive, signs[]

  • Early Infantile Epileptic Encephalopathy Type 2

    […] degree of psychomotor delay and cognitive impairment, ranging from mild to severe mental retardation [23].[] Other features included hand stereotypies, hyperventilation when upset, and small feet. Weaving et al. (2004) considered a diagnosis of atypical Rett syndrome.[] PRTS MRXS1 309510 Genetic Test Registry Pitt-Hopkins Syndrome Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation[]

  • Argininosuccinic Aciduria

    The characteristic symptoms are either those of overwhelming metabolic disease in the newborn period, or variable psychomotor retardation.[] The neonatal presentation is characterized with a normal delivery followed by lethargy, vomiting, poor feeding, hypothermia, hyperventilation, decreased consciousness and[] […] ammonia, argininosuccinate, and citrulline in the blood, and argininosuccinate is excreted in the urine. [9] Other resulting symptoms include lethargy, vomiting, hypothermia, hyperventilation[]

  • West Syndrome

    […] clinical manifestations such as hypotonia, psychomotor retardation, and feeding difficulties.[] The interictal EEG during wakefulness showed age appropriated background activity with infrequent generalized discharges of 4 Hz spike-wave during hyperventilation.[] In Dam’s proving one could see, apart from the general milk themes, symptoms like hyperventilation and tetany: fainting, vertigo with falling backward or forward, numbness[]

  • Hereditary Hyperekplexia

    Examples) PS300755 Immunodeficiency with hyper-IgM PS308230 Immunodeficiency, common variable PS607594 Immunodeficiency-centromeric instability-facial anomalies PS242860[] The volume finishes off with hyperventilation syndrome, psychogenic seizures (with or without epilepsy), and panic disorders.[] retardation and characteristic facies PS615419 Hypotrichosis PS605389 Ichthyosis, congenital, autosomal recessive PS242300 IgA nephropathy PS161950 Immunodeficiency (Select[]

  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    […] mild to moderate mental retardation/learning disabilities/variable Mucolipdosis IV (Sialolipidosis) Ganglioside sialidase (neuraminidase) AR infancy psychomotor[] […] electrolytes, vitamin D Fructose 1,6-biphosphatase deficiency (229700) Fructose 1,6-biphosphatase FBP1 (9q22)* Onset: Infancy or early childhood Clinical features: Episodic hyperventilation[] […] problems may lead to the diagnosis, usually by two years of age: seizures or other manifestations of severe fasting hypoglycemia hepatomegaly with abdominal protuberance hyperventilation[]

  • Methylmalonic Acidemia with Homocystinuria Type cblF

    A variable degree of clinical improvement was recorded in all patients, although all the children exhibited variable residual neurologic impairment with psychomotor retardation[] “Acute Symptoms in the Neonatal Period: Neonatal Metabolic Distress”) Hyperventilation attacks ( Table 66-37 ) Ocular Symptoms Cataracts ( Table 66-38 ) Corneal opacity ([]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Rarely it is an etiology of psychomotor retardation of childhood. Lens dislocation outside of the neonatal period is a common finding but of variable onset.[] PRTS MRXS1 309510 Genetic Test Registry Pitt-Hopkins Syndrome Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation[] It is worth noting also that, at variance with classical RTT, the patient had no history of hand stereotypy, hyperventilation, or teeth grinding.[]

  • Spinocerebellar Ataxia Type 13

    SCAR13 is characterized by delayed psychomotor development beginning in infancy.[] EEG is abnormal, hyperventilation induce a repeated fits 5 6 HZ θ activities. Head MRI did not see anomaly, no cerebellar or brainstem atrophy.[] […] ophthalmoplegia, central nystagmus with rotary and horizontal components Course - Relapsing-remitting course, rarely progressively fatal Respiratory - Characterized by unexplained hyperventilation[]

  • Coffin-Lowry Syndrome

    Based on the clinical association of growth and psychomotor retardation with hypotonia, progressive skeletal deformations, characteristic facial dysmorphism, and large soft[] Pitt-Hopkins syndrome is characterized by distinctive facial features that become more apparent with age, significant developmental delay / intellectual disability, and episodic hyperventilation[] It characterized by moderate to severe psychomotor and growth retardation, characteristic facial features, skeletal deformities and tapering fingers in males.[]

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