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Ataxia in Children

Ataxia in Children. B.S.Rao MD Dept. of Pediatrics S.Railway Hospital, CHENNAI-600023, (INDIA). CAUSES OF ATAXIA : ACUTE. Idiopathic Metabolic: Hypoglycemia Hyponatremia Hyperammonemia Leigh’s disease Wernicke’s encephalopathy. Causes of Ataxia : ACUTE. Infections:

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Ataxia in Children

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  1. Ataxia in Children B.S.Rao MD Dept. of Pediatrics S.Railway Hospital, CHENNAI-600023, (INDIA)

  2. CAUSES OF ATAXIA : ACUTE • Idiopathic • Metabolic: • Hypoglycemia • Hyponatremia • Hyperammonemia • Leigh’s disease • Wernicke’s encephalopathy

  3. Causes of Ataxia : ACUTE • Infections: • Bacterial meningitis • Viral meningitis • Brain stem encephalitis • Toxins • Hydrocephalus • Cerebellar lesions • Neuroblastoma

  4. Hypotonia Pendular reflexes Limb movement impairment Asthenia Ataxia Decompensation of movements Asynergia Tremor Deviation from line of movement Impaired rebound Dysdiadochokinesia Static tremor Vertigo Dysarthria Nystagmus Gait difficulties Findings in cerebellar disease

  5. Causes of Ataxia : ACUTE • Polyradiculopathy • Guillain - Barre syndrome • Tick paralysis • Labrynthitis • Brain stem tumors • Multiple sclerosis • Trauma

  6. Causes of Ataxia : EPISODIC • Metabolic: • Hypoglycemia • Hyperammonemia • Organic acid disorders , Maple syrup • Hartnup ,hyperpyruvic acidemia • Refsum’s • Porphyria • Basilar artery migraine (benign paroxysmal vertigo) • Epilepsy • Postictal state • Minor motor status • Toxins • Dominant paroxysmal ataxia

  7. Causes of ataxia : CHRONIC • Fixed deficit : CP , Malformations • Degenerative: • Friedreich’s ,Dominant hereditary ataxia, Charcot-Marie-Tooth disease, Roussy-Levy • Other inherited diseases: • Wilson’s , Refsum’s, Bassen-Kornweig • Ataxia telengiectasia, Sphingolipidoses • Neuronal ceroid-lipofuscinoses • Chediak Higashi, von Hippel-Lindau disease

  8. Causes of ataxia :CHRONIC • Acquired diseases: • Hypothyroidism • Neoplasms • Drugs and toxins • Multiple sclerosis • Nutritional cerebellar degenerations

  9. Treatable causes of inherited ataxiaRefsum’s disease Phytanic acid -hydroxylase deficiency • Clinical features: • Retinitis pigmentosa • cardiomyopathy • hypertrophic neuropathy • Ichythiosis • Treatment: • Dietary restriction of Phytanic acid

  10. Treatable causes of inherited ataxiaBassen-Kornzweig syndrome Abetalipoproteinemia • Clinical features: • Acanthocytosis • Retinitis pigment • Fat malabsorption • Treatment: • Vitamin E

  11. Treatable causes of inherited ataxiaWilson’s Disease Copper accumulation • Clinical features: • Kayser-Fleischer ring • Liver involvement • Treatment: • Chelators: Penicillamine, BAL , EDTA

  12. Treatable causes of inherited ataxiaHartnup’s disease Tryptophan malabsorption • Clinical features: • Pellagra rash • intermittent ataxia • Treatment: • Niacin

  13. Treatable causes of inherited ataxiaFamilial Periodic Ataxia Familial Periodic Ataxia : Cause not known • Clinical features: • Episodic attacks • Worst with pregnancy or birth control pills TREATMENT: Acetazolamide

  14. Treatable causes of inherited ataxiaUrea Cycle Defects Urea cycle defects: Urea cycle enzyme defects Clinical features: Hyper ammonemia TREATMENT: Protein restriction Arginine , benzoate , alfa-ketoacids

  15. Treatable causes of inherited ataxiaMultiple Carboxylase Deficiency Multiple carboxylase deficiency: Biotidinase deficiency Clinical features: Alopecia recurrent infections variable organic aciduria TREATMENT: Biotin

  16. Friedreich’s ataxia:Clinical features • AR inheritance • Onset before puberty of gait ataxia or scoliosis • Rapid progression in initial 2 yr of • Limb ataxia ,scoliosis,loss of DTR • position and light touch sensation • Cardiomyopathy • Absence of ophthalmoplegia& dementia

  17. Biotin (Vitamin H) • Biotin is a cofactor for 4 carboxylation enzymes • these enzymes are involved in carbon chain elongation reactions: Gluconeo- genesis ,fatty acid synthesis, leucine catabolism etc. • Biotin is present in low conc. in several foods - intestinal synthesis serves as a major source

  18. Biotin (Vitamin H) • The enzyme biotidinase cleaves Biotin biotin from biocytin(biotin - lysine) -thus allowing biotin reuse • Recommended daily intake: • 35 microgram for neonates • 100-200 for adults

  19. Biotin deficiency • Deficiency from inadequate dietary intake is quite rare - reported in 2 children on large quantities of raw albumin (avidin binds biotin) • has been reported as a consequence of hyperalimentation and chronic hemodialysis

  20. Biotin deficiency:Clinical features • Generalized scaly erythematous rash resembling seborrhoea • alopecia totalis • anorexia , metabolic acidosis • developmental delay ,seizures , progressive ataxia and hearing loss • In neonates & infants :may progress rapidly -with vomiting ,FTT , hypotonia , severe met.acidosis to coma

  21. Biotin deficiency: Lab findings • Metabolic acidosis • specific organic aciduria : • 3 methyl - crotonylglycine • 3 hydroxyisovaleric acid • 3 hydroxypropinic acid, and • 2 methylcitric acid

  22. Biotin dependency: Biotin-dependent Propionic acidemia: • deficiency of the enzyme Propionyl CoA carboxylase (Biotin essential cofactor) • Clinical features: • rapid onset of an overwhelming illness with severe vomiting and dehydration leading to lethargy and coma • may appear first in neonatal period or infancy precipitated by febrile illness

  23. Biotin dependency: management • Dietary therapy with restriction of intake of Leucine ,valine, threonine , and methionine • Biotin 5 mg bid • Acute episodes: Fluid therapy , electrolytes , glucose and supplementary proteins to prevent tissue breakdown , PD, exchange Tr.

  24. Biotin dependent holocarboxylase synthetase deficiency(multiple carboxylase eficiency) • Neonatal :Vomiting ,lethargy ,hypotonia associated with ketoacidosis, lactic acidosis , and organic aciduria in first few days of life • Result of the deficiency of the enzyme Holocarboxylase synthetase- the enzyme that attaches Biotin to various carboxylases • Most improve dramatically following oral administration of Biotin 10mg/ day

  25. Biotinidase deficiency:Late onset Multiple carboxylase deficiency • Clinical manifestations by 2 - 3 months • seizure, episodic ataxia, hyperventilation, hearing loss, optic atrophy, developmental delay, skin rash, candidiasis, conjunctivitis • Laboratory • lactic acidosis, hyperammonemia, organic aciduria, decreased B and T cell activity • Except for visual & hearing loss - responds to Biotin 10mg/day

  26. Ataxia telangiectasia(Louis-Bar) • neurological, cutaneous, hepatic, skin, immunological & endocrinological abnormalities • Telangiectasias develop around 3yr of age • Bulbar conjunctivae, nasal bridge, malar areas , ext. ears, hard palate, upper chest, antecubital fossa • Cutaneous stigmata: café au lait spots, premature graying of hairs, sclerodermatous changes

  27. Clinical features • Progressive cerebellar ataxia • oculocutaneous telangiectasia • chronic sinupulmonary infections • high incidence of malignancy • variable humoral & cellular immunedeficiency • Ataxia begins soon after child begins to walk

  28. Pathophysiology: • Patients cells have • increased sensitiveness to ionizing radiation • defective DNA repair • frequent chrosomal abnormalities • Chromosomal breakages in Ch 7 and 14 , genes coding for T-cell receptor & Ig heavy chains • Malignancies reported: lymphoreticular type

  29. Pathophysiology: • Humoral immunoglobulin abnormality: • absence of IgA (50-80%) • Lymphocyte function is generally depressed • AR inheritance • Genetics: abnormal gene mapped out to the long arm of chromosome 11

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