Viktor's Notes – Differential Diagnosis of Pediatric ...



Differential Diagnosis of Pediatric NeurodisordersLast updated: SAVEDATE \@ "MMMM d, yyyy" \* MERGEFORMAT April 21, 2019 TOC \h \z \t "Nervous 1,1" Predominant Ethnic Background PAGEREF _Toc4283473 \h 1Typical Age at Onset PAGEREF _Toc4283474 \h 1Clues in Physical Examination PAGEREF _Toc4283475 \h 1Prominent Seizures or Myoclonus PAGEREF _Toc4283476 \h 3Motor Signs PAGEREF _Toc4283477 \h 3Eye Findings PAGEREF _Toc4283478 \h 4Useful Laboratory Tests PAGEREF _Toc4283479 \h 4Electrodiagnosis PAGEREF _Toc4283480 \h 5Biopsies PAGEREF _Toc4283481 \h 5Predominant Ethnic BackgroundAshkenazi Jews Nova Scotia Classic Tay-Sachs diseaseType D Niemann-Pick diseaseInfantile Niemann-Pick diseaseJapanJuvenile Gaucher diseaseSialidosis with chondrodystrophyRecessive dystonia musculorum deformansScandinaviaMucolipidosis IVFinnish (infantile) variant of ceroid lipofuscinosisCanavan diseaseJuvenile neuronopathic Gaucher diseaseDysautonomiaKrabbe diseaseJuvenile non-neuronopathic Gaucher diseaseAspartylglucosaminuriaSaudi ArabiaBaltic myoclonus epilepsy (Unverricht-Lundborg syndrome)Canavan disease Typical Age at OnsetNeonatal or Early InfantilePreschool Years Aminoacidurias and organic aciduriasUrea cycle disordersAminoacidurias, organic acidurias, urea cycle disorders with partial enzyme deficiencyGalactosemiaAspartylglucosaminuriaConnatal Pelizaeus-Merzbacher syndromeMarinesco-Sj?gren syndromeConnatal Alexander diseaseAlexander diseaseCongenital sialidosisAtaxia telangiectasiaEarly onset mitochondrial diseasesXeroderma pigmentosumSpongy degeneration (Canavan) (some cases)Chediak-Higashi diseaseAicardi-Goutieres syndromeMetachromatic leukodystrophyInfantile Gaucher diseaseLate infantile gangliosidosesInfantile adrenoleukodystrophyNiemann Pick--Nova Scotia variantZellweger syndrome and variantsLate infantile ceroid lipofuscinosisNeonatal adrenoleukodystrophySanfilippo syndromesChondrodysplasia punctataMaroteaux-Lamy diseaseInfantile Refsum syndromeMild Hunter diseaseGM1 gangliosidosis (infantile variant)Leigh syndrome and other mitochondrial cytopathiesI-cell disease (mucolipidosis II)Kearns-Sayre syndromeTrichopoliodystrophy (Menkes)Disintegrative psychosisNeurocutaneous syndromesOther autistic regressionProgressive spinal muscular atrophy (Werdnig-Hoffmann disease)School Age or AdolescenceSeckel bird-headed dwarfsAcute intermittent porphyriaInfantileJuvenile ceroid lipofuscinosisAminoacidurias, organic acidurias, urea cycle disorders with partial enzyme deficiencyAdrenoleukodystrophyLate variants of gangliosidosesMany sphingolipidoses, mucopolysaccharidoses, mucolipidosesInfantile ceroid lipofuscinosisNiemann-Pick with vertical ophthalmoplegiaLeigh syndrome (early types)Fabry diseaseOther mitochondrial cytopathiesCerebrotendinous xanthomatosisLesch-Nyhan syndromeLeigh syndrome (some variants)Sj?gren-Larsson syndromeSpongy degenerationOther mitochondrial cytopathies (e.g., MERFF, MELAS)Wolman diseaseRefsum diseaseAlexander diseaseFriedreich ataxiaPelizaeus-Merzbacher diseaseBassen-Kornzweig diseaseNeuraxonal dystrophyOther spinocerebellar degenerationsInfantile Hallervorden-Spatz diseaseDystonia musculorum deformansInfantile fucosidosisJuvenile Huntington diseaseNephrosialidosisJuvenile parkinsonismSialidosisClassic Hallervorden-Spatz syndromePompe diseaseLafora diseaseXeroderma pigmentosumBaltic myoclonusCockayne diseaseSubacute sclerosing panencephalitis (SSPE)Infantile galactosialidosisWilson diseaseProgeriaSialidosis with cherry red spot-myoclonus (variants with and without chondrodystrophy)Rett syndrome Clues in Physical ExaminationBig HeadSkin Abnormalities Tay-Sachs diseaseThin atrophic skin:Alexander disease??Ataxia telangiectasiaSpongy degeneration (Canavan)??Cockayne diseaseHurler disease??Xeroderma pigmentosumOther mucopolysaccharidoses with hydrocephalus??ProgeriaSmall HeadThick skin:Krabbe disease??I-cell diseaseInfantile ceroid lipofuscinosis??Mucopolysaccharidoses I, II, IIISome infantile mitochondrial disorders??Infantile fucosidosisNeuraxonal dystrophySubcutaneous nodules:Incontinentia pigmenti??Farber diseaseCockayne disease??NeurofibromatosisRett syndrome??Cerebrotendinous xanthomatosisBird-headed dwarfsXanthomas:Hair Abnormalities??Niemann-Pick diseaseStiff, wiry:Blotching:??Trichopoliodystrophy (Menkes)??DysautonomiaFrizzy hair:Enlarged Nodes??Giant axonal neuropathyFarber diseaseHirsutism:Niemann-Pick disease??Infantile GM1 gangliosidosisJuvenile Gaucher disease??Hurler, Hunter, Sanfilippo syndromesChediak-Higashi disease??I-cell diseaseAtaxia telangiectasia (lymphoma)Gray:Stridor, Hoarseness??Ataxia telangiectasiaInfantile-onset peroxisomal disorders??Cockayne diseaseFarber disease??Chediak-Higashi diseaseInfantile Gaucher disease??ProgeriaPelizaeus-Merzbacher diseaseSkin AbnormalitiesEnlarged Orange TonsilsTelangiectasia:Tangier disease??Ataxia telangiectasiaSevere Swallowing ProblemsAngiokeratoma:??Fabry disease(Present late in course of all patients with severe bulbar, pseudobulbar, cerebellar, or basal ganglia pathology)??Juvenile fucosidosisInfantile Gaucher disease??GalactosialidosisDysautonomiaIchthyosis:Hallervorden-Spatz syndrome??Refsum diseaseDystonia musculorum deformans??Sj?gren-Larsson syndromeZellweger syndromeHypopigmentation:Heart Abnormalities??Trichopoliodystrophy (Menkes)Pompe disease??Chediak-Higashi syndromeHurler disease and other mucopolysaccharidoses??Tuberous sclerosis (ash leaf spots)Fabry disease??Hypomelanosis of ItoInfantile fucosidosis??Prader-WilliRefsum disease??PhenylketonuriaFriedreich ataxiaHyperpigmentation:Zellweger syndrome??Niemann-Pick diseaseTuberous sclerosis??AdrenoleukodystrophyProgeria??Farber diseaseAbetalipoproteinemia (Bassen-Kornzweig disease)??Neurofibromatosis (cafe au lait spots)??Xeroderma pigmentosum??Incontinentia PigmentiHeart AbnormalitiesBone and Joint AbnormalitiesDisorders of carnitine metabolismStiff joints:Duchenne muscular dystrophy??Mucopolysaccharidoses (all but type I-S)Kearns-Sayre syndrome??Mucolipidoses (most types)Strokes??FucosidosisFabry disease??Farber diseaseTrichopoliodystrophy (Menkes)??Sialidoses (some forms)Progeria??Zellweger syndromeMELAS??Rhizomelic chondrodysplasia punctataHomocystinuria??Cockayne diseaseSickle cell diseasesScoliosis:Organomegaly??Friedreich ataxiaMucopolysaccharidoses (most types)??Ataxia telangiectasiaInfantile GM1 gangliosidosis??Dystonia musculorum deformansNiemann-Pick disease??All chronic diseases with muscle weakness, especially anterior horn cell involvementGaucher disease??Rett syndromeGeneralized peroxisomal disordersKyphosis:Galactosemia??MucopolysaccharidosesPompe diseaseEndocrine DysfunctionMannosidosisAdrenals:Gastrointestinal Problems??AdrenoleukodystrophyMalabsorption:??Wolman disease??Wolman diseaseHypogonadism:??Bassen-Kornzweig disease??Xeroderma pigmentosumNonfunctioning gallbladder:??Ataxia telangiectasia??Metachromatic leukodystrophy??Some spinocerebellar degenerations??Infantile fucosidosisDiabetes:Jaundice:??Ataxia telangiectasia??Infantile Niemann-Pick diseaseDwarfing:??Zellweger disease??Morquio disease??Galactosemia??Other mucopolysaccharidoses??Niemann-Pick disease??Cockayne syndromeVomiting:??Progeria??Dysautonomia??Diseases with severe malnutrition??Urea cycle defectsHypothalamic dysfunctionDiarrhea:??De Sanctis-Cacchione syndrome??Hunter syndromeNeoplasmsKidney ProblemsAtaxia telangiectasiaRenal failure:Xeroderma pigmentosum??Fabry diseaseNeurofibromatosis??NephrosialidosisVon Hippel-Lindau diseaseCysts:Tuberous sclerosis??Zellweger syndromeHearing Loss??Von Hippel-Lindau diseaseHunter disease??Tuberous sclerosisOther mucopolysaccharidoses??Neonatal OPCAGeneralized peroxisomal disorders??Joubert syndromeRefsum diseaseStones:Cockayne disease??Lesch-Nyhan diseaseKearns-Sayre and Leigh syndromesAminoaciduria:Other mitochondrial cytopathies??AminoaciduriasSome spinocerebellar degenerations??Lowe syndromeUsher syndrome??Wilson diseaseProminent Seizures or MyoclonusAcute intermittent porphyria Gangliosidoses (infantile types especially) Ceroid lipofuscinoses (late infantile variant especially) MERFF, MELAS Trichopoliodystrophy (Menkes) Zellweger syndrome Generalized peroxisomal disorders Infantile Alexander disease Krabbe disease Lafora disease Baltic myoclonus Sanfilippo disease Juvenile Huntington disease Tuberous sclerosis Juvenile neuropathic Gaucher disease SSPEMotor SignsFloppiness in InfancyProminent Cerebellar Signs Progressive spinal muscular atrophyNeuraxonal dystrophyCongenital myopathiesMetachromatic leukodystrophyZellweger syndromeAtaxia telangiectasiaPompe diseaseLeigh syndromeTrichopoliodystrophyNiemann-Pick disease (Nova Scotia variant)Neuraxonal dystrophySome late-onset gangliosidosesGangliosidoses (early variants)Some sialidosesFucosidosis (infantile variant)Friedreich ataxiaInfantile ceroid lipofuscinosisBassen-Kornzweig diseaseSpongy degeneration (early)Cerebrotendinous xanthomatosisLeigh syndrome (early variant)Other spinocerebellar degenerationsNeonatal OPCALafora diseasePeripheral NeuropathyBaltic myoclonusAcute intermittent porphyriaChediak-Higashi diseaseMetachromatic leukodystrophyUsher syndromeFabry diseaseNeonatal OPCAKrabbe diseaseDeSanctis-CacchioneNeuraxonal dystrophyAbnormal Posture or MovementsRefsum diseaseWilson diseaseTangier diseaseLesch-Nyhan diseaseBassen-Kornzweig diseaseHallervorden-Spatz syndromeSialidosis (some variants)Familial striatal necrosisMucolipidosis IIIDystonia musculorum deformansCerebrotendinous xanthomatosisJuvenile Niemann-Pick with ophthalmoplegiaAtaxia telangiectasiaChronic GM1 and GM2 gangliosidosesAdrenomyeloneuropathyPelizaeus-Merzbacher syndromeLevy-Roussy syndromeCrigler-Najjar diseaseMucopolysaccharidoses I, II, VI, VII (entrapment)Ataxia telangiectasiaCockayne syndromeJuvenile ceroid lipofuscinosisSome mitochondrial cytopathiesJuvenile Huntington diseaseGiant axonal neuropathyJuvenile ParkinsonismProminent Cerebellar SignsGilles de la Tourette syndromeWilson diseaseLate infantile ceroid lipofuscinosisDeSanctis-Cacchione (Xeroderma pigmentosum with endocrine dysfunction)Pelizaeus-Merzbacher diseaseDentato-rubro-luysial atrophyEye FindingsConjunctival TelangiectasiaMacular and Retinal Pigmentary Degeneration Ataxia telangiectasiaOther mitochondrial cytopathiesFabry diseaseHallervorden-Spatz syndrome (some types)Corneal OpacityCockayne diseaseWilson disease (Kayser-Fleischer ring)Sj?gren-Larson syndrome (not always)Mucopolysaccharidoses I, III, IV, VIUsher syndromeMucolipidoses III, IVSome Other spinocerebellar syndromesFabry diseaseNeurocutaneous syndromesGalactosialidosisOptic AtrophyCockayne diseaseKrabbe diseaseXeroderma pigmentosumMetachromatic leukodystrophyZellweger syndrome (inconstant)Most sphingolipidoses late in their courseLens OpacityAdrenoleukodystrophyWilson diseaseAlexander diseaseGalactosemiaSpongy degenerationMarinesco-Sj?gren syndromePelizaeus-Merzbacher diseaseLowe diseaseNeuraxonal dystrophyCerebrocutaneous xanthomatosisNeonatal mitochondrial cytopathiesSialidosis (rarely significant clinically)Leber congenital amaurosisMannosidosisSome spinocerebellar degenerationsZellweger syndromeDiseases with retinal pigmentary degenerationGlaucomaNystagmusMucopolysaccharidosis I--ScheieDisease with poor vision (searching nystagmus)Zellweger syndrome (infrequent)Pelizaeus-Merzbacher syndromeCherry-Red SpotMetachromatic leukodystrophyTay-Sachs diseaseFriedreich ataxiaSialidosis (usually)Other spinocerebellar degenerations and cerebellar atrophiesInfantile Niemann-Pick (50% of cases)Neuraxonal dystrophyInfantile GM1 gangliosidosis (50% of cases)Ataxia telangiectasiaFarber disease (inconstant)Leigh syndrome (inconstant)Multiple sulfatase deficiency (metachromatic leukodystrophy ??variant)Marinesco-Sj?gren syndromeMacular and Retinal Pigmentary DegenerationOpsoclonus-myoclonus syndromeCeroid lipofuscinosis (most types)Chediak-Higashi syndromeMucopolysaccharidoses I-H and I-S, II, IIIOphthalmoplegiaMucolipidosis IVLeigh syndromeBassen-Kornzweig syndrome (abetalipoproteinemia)Kearns-Sayre and Leigh syndromesPeroxisomal disordersNiemann-Pick variant with vertical ophthalmoplegia (type C)Olivopontocerebellar variantBassen-Kornzweig syndromeRefsum disease (all types)Ataxia telangiectasiaKearns-Sayre syndromeInfantile Gaucher diseaseLeber congenital amaurosis Tangier diseaseUseful Laboratory TestsUrine??Amino acids, organic acids??Galactose, other sugars??Mucopolysaccharides, sialylated oligosaccharides?? N-Acetyl aspartic acid??Copper excretion??Porphyrins??Metachromatic granules??Oxalate, cysteine crystalsBlood Chemistry??Ammonia (urea cycle disorders)??Lactate-pyruvate ratio (Leigh syndrome, other mitochondrial cytopathies)??Amino acids, organic acids and other special metabolites??C26/C22 very long chain fatty acid ratio (adrenoleukodystrophy, Zellweger disease, infantile Refsum disease)??Phytanic acid??Pipecolic acidWhite Blood Cells??Lysosomal enzymes and other enzymatic assays??DNA tests for genetic mutations??Lipid and other inclusions (ceroid lipofuscinoses, gangliosidoses)Red Blood Cells??Enzymatic assays for galactosemia, porphyriaCultured Skin Fibroblasts??Enzymatic assays for most diseases with known deficits??Lipid and other inclusions (in mucolipidosis IV, I-cell disease, mucopolysaccharidoses, Chediak-Higashi) DNA repair after ultraviolet or irradiation exposure (ataxia telangiectasia, Cockayne syndrome, xeroderma pigmentosum)??Restriction fragment length polymorphisms??DNA tests for genetic mutationsCSF Protein Increased??Metachromatic leukodystrophy, Krabbe, infantile adrenoleukodystrophy (not always in classic variant), Friedreich ataxia and other spinocerebellar degenerations (inconstant), Zellweger disease (sometimes), Refsum disease, Cockayne syndromeCSF Lactate/Pyruvate??Mitochondrial cytopathiesAmniotic Cells??Enzymatic assays for disease of known enzymatic defect??Abnormal inclusion in mucolipidosis IV??Karyotype in X-linked disease??C26/C22 very long chain fatty acid ratio??Restriction fragment length polymorphisms??DNA tests for genetic mutationsIntradermal Histamine test??DysautonomiaElectrodiagnosisEMG and nerve conduction velocity To detect neuropathy, anterior horn cell disease, or muscle involvement Electroretinography To detect retinal degeneration Visual evoked responses Giant potentials in late infantile ceroid lipofuscinosis; delayed latency and decreased amplitude in leukodystrophies or optic atrophy. Brain stem auditory evoked responses Diagnosis of hearing loss; prolonged latency in leukodystrophies; delayed waves with decrease of amplitude in leukodystrophies and other disease of brain stem Somatosensory evoked responses Giant potentials in sialidosis with cherry-red spot myoclonus; decreased amplitude in peripheral neuropathy; delayed waves with decreased amplitude in diseases of white matter and peripheral nervesBiopsiesSkinNerveCeroid lipofuscinosis?Neuraxonal dystrophyMucopolysaccharidoses?Metachromatic leukodystrophyMucolipidosis IV?Other diseases with neuropathiesNeuraxonal dystrophyLiverLafora disease?Wilson disease (copper content)Conjunctiva?Generalized peroxisomal disorders (absent peroxisomes, cirrhosis)MucopolysaccharidosesMucolipidoses?Lafora diseaseNeuraxonal dystrophy?GlycogenesisBone MarrowBrain(rarely needed except possibly for following)Niemann-Pick diseaseAtypical ceroid lipofuscinosisGaucher diseaseAlexander diseaseMucopolysaccharidosesNeuraxonal dystrophySea-blue histiocyte syndromeUndiagnosed disease with probable cortical involvementMuscleLafora diseaseRectumGlycogenoses SphingolipidosesOther myopathiesCeroid lipofuscinosesNeuraxonal dystrophySialidosesMitochondrial myopathies (Kearns-Sayre, Leigh syndrome)Bibliography for ch. “Pediatrics” → follow this link >>Viktor’s Notes? for the Neurosurgery ResidentPlease visit website at ................
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