Adrenoleukodystrophy differential diagnosis: Difference between revisions
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==Differential Diagnosis== | ==Differential Diagnosis== | ||
Adrenoleukodystrophy must be differentiated from other diseases that cause neurological manifestations in infants. | |||
{| | |||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |||
! rowspan="2" |Diseases | |||
! colspan="4" |Type of motor abnormality | |||
! rowspan="2" |Clinical findings | |||
! rowspan="2" |Laboratory findings and diagnostic tests | |||
! rowspan="2" |Radiographic findings | |||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |||
!Spasticity | |||
!Hypotonia | |||
!Ataxia | |||
!Dystonia | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Leigh syndrome]] | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Progressive [[psychomotor]] regression | |||
* [[Seizures]] | |||
* External [[ophthalmoplegia]] | |||
* [[Lactic acidosis]] | |||
* [[Vomiting]] | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Increased [[lactate]] levels in [[blood]] and [[CSF]] | |||
* Genetic testing | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* MRI: abnormal [[white matter]] signal in the [[putamen]], [[basal ganglia]], and [[brainstem]] on T2 images | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Niemann-Pick]] disease type C | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Progressive [[neurodegeneration]] | |||
* [[Hepatosplenomegaly]] | |||
* Systemic involvement of [[liver]], [[spleen]], or [[lung]] preceedes [[neurologic]] symptoms | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Abnormal [[liver]] function tests | |||
* [[Fibroblast]] cell culture with filipin staining | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* MRI: | |||
**[[Cerebral]] and [[cerebellar]] [[atrophy]] | |||
**Thinning of the [[corpus callosum]] | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Infantile Refsum disease | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Abnormalities of the [[optic nerve]] and disc | |||
* [[Retinitis pigmentosa]] | |||
* [[Sensorineural]] hearing loss | |||
* [[Hepatomegaly]] and [[cirrhosis]] | |||
* [[Neurologic]] deterioration is slower than in [[Zellweger syndrome]] or ALD | |||
| style="background: #F5F5F5; padding: 5px;" |Elevated plasma VLCFA levels | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Adrenoleukodystrophy]] | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* [[Cognitive]] and behavioral abnormalities | |||
* [[Adrenal insufficiency]] | |||
* [[Hyperpigmented]] skin | |||
* [[Gonadal dysfunction]] | |||
* [[Neurologic]] deterioration progresses at a variable rate | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Elevated plasma VLCFA levels | |||
* Molecular [[genetic testing]] for mutations in the ABCD1 gene | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Zellweger syndrome]] | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* [[Craniofacial]] dysmorphism | |||
* [[Hepatomegaly]] | |||
* Neonatal [[seizures]] | |||
* Profound developmental delay | |||
* [[MRI]] findings include [[cortical]] and [[white matter]] abnormalities | |||
* [[Neurologic deterioration]] is rapid and infants rarely survive beyond six months of age | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Elevated plasma VLCFA levels | |||
* Elevated levels of [[phytanic acid]], pristanic acid, and pipecolic acid in plasma and [[fibroblasts]] | |||
* Reduced plasmalogen in [[erythrocytes]] | |||
* Molecular [[genetic]] testing for [[mutations]] in the PEX1 or PEX6 genes | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Pyruvate dehydrogenase deficiency]] | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* [[Lactic acidosis]] | |||
* [[Seizures]] | |||
* [[Intellectual disability]] | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Elevated [[lactate]] and pyruvate levels in [[blood]] and CSF | |||
* Abnormal PDH enzymatic activity in cultured fibroblasts | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Arginase deficiency]] | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* [[Hyperammonemia]] | |||
* [[Encephalopathy]] | |||
* [[Respiratory alkalosis]] | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Elevated [[ammonia]] level | |||
* Elevated [[arginine]] level | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Holocarboxylase synthetase deficiency | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* [[Ketoacidosis]] | |||
* [[Dermatitis]] | |||
* [[Alopecia]] | |||
* [[Seizures]] | |||
* [[Developmental delay]] | |||
| style="background: #F5F5F5; padding: 5px;" |Elevated levels of: | |||
* Beta-hydroxyisovalerate | |||
* Beta-methylcrotonylglycine | |||
* Beta-hydroxypropionate | |||
* Methylcitrate | |||
* Tiglylglycine | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Glutaric aciduria type 1 | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Episodes of [[metabolic decompensation]] and [[encephalopathy]] often precipitated by [[infection]] and [[fever]] | |||
* Rarely presents in the newborn period | |||
* Microencephalic [[macrocephaly]] | |||
* [[Seizures]] (approximately 20 percent) | |||
* [[Cognitive function]] is preserved | |||
| style="background: #F5F5F5; padding: 5px;" |Elevated levels of: | |||
* [[glutaric acid]] | |||
* 3-hydroxyglutaric acid | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* MRI: | |||
**[[Frontal]] and [[temporal]] [[atrophy]] | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Ataxia telangiectasia]] | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" |<nowiki>-</nowiki> | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Progressive [[cerebellar]] [[ataxia]] | |||
* Abnormal eye movements | |||
* [[Oculocutaneous]] [[telangiectasias]] | |||
* Immune deficiency | |||
* Increased risk of [[malignancy]] | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Elevated serum alpha-fetoprotein level | |||
* Low [[IgA]] and [[IgG]] levels | |||
* [[Lymphopenia]] | |||
* Genetic testing for [[mutation]] in the ATM gene | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Pontocerebellar]] [[hypoplasias]] | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Progressive muscle [[atrophy]] | |||
* [[Microcephaly]] | |||
* [[Developmental delay]] | |||
| style="background: #F5F5F5; padding: 5px;" |[[Genetic]] testing for PCH gene mutations | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* MRI : | |||
**Small [[cerebellum]] and [[brainstem]] including the [[pons]] | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Metachromatic leukodystrophy]] | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Regression of motor skills | |||
* [[Seizures]] | |||
* [[Optic atrophy]] | |||
* Reduced or absent [[deep tendon reflexes]] | |||
* [[Intellectual disability]] | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Deficient arylsulfatase A enzyme activity in [[leukocytes]] or cultured skin fibroblasts | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Pelizaeus-Merzbacher]] | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* [[Nystagmus]] | |||
* [[Cognitive impairment]] | |||
* Onset in infancy | |||
* Slowly progressive | |||
* Language development may be normal | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* [[Genetic]] testing for [[mutations]] in PLP1 gene | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
*MRI: | |||
**[[White matter]] abnormalities | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Angelman syndrome]] | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Profound [[intellectual disability]] | |||
* Postnatal [[microcephaly]] | |||
* Typical abnormal behaviors (paroxysmal laughter, easily excitable) | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Methylation studies and [[chromosome]] microarray to detect chromosome 15 anomalies and UBE3A mutations | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Rett syndrome]] | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Occurs almost exclusively in females | |||
* Normal development during first six months followed by regression and loss of milestones | |||
* Loss of speech capability | |||
* Stereotypic hand movements | |||
* [[Seizures]] | |||
* [[Autistic]] features | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Clinical diagnosis | |||
* [[Genetic]] testing for MECP2 mutations | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Lesch-Nyhan syndrome]] | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* [[Self-mutilating]] behavior | |||
* [[Urinary]] stones due to [[hyperuricemia]] | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Elevated [[uric acid]] level | |||
* Abnormal enzymatic activity of HPRT in cultured fibroblasts | |||
* [[Genetic]] testing for HPRT gene [[mutations]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Miller-Dieker lissencephaly | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* [[Lissencephaly]] | |||
* [[Microcephaly]] | |||
* [[Dysmorphic]] features | |||
* [[Seizures]] | |||
* Failure to thrive | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Cytogenetic testing for 17p13.3 microdeletion | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Dopa-responsive [[dystonia]] | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | - | |||
| style="background: #F5F5F5; padding: 5px;" | + | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Onset in early childhood | |||
* Symptoms worsen with [[fatigue]] and exercise | |||
| style="background: #F5F5F5; padding: 5px;" | | |||
* Positive response to a trial of [[levodopa]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" |-- | |||
|} | |||
==References== | ==References== |
Revision as of 15:50, 9 October 2017
Adrenoleukodystrophy Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Differential Diagnosis
Adrenoleukodystrophy must be differentiated from other diseases that cause neurological manifestations in infants.
Diseases | Type of motor abnormality | Clinical findings | Laboratory findings and diagnostic tests | Radiographic findings | |||
---|---|---|---|---|---|---|---|
Spasticity | Hypotonia | Ataxia | Dystonia | ||||
Leigh syndrome | - | - | + | + |
|
| |
Niemann-Pick disease type C | - | - | + | + |
|
|
|
Infantile Refsum disease | - | + | + | - |
|
Elevated plasma VLCFA levels | -- |
Adrenoleukodystrophy | + | - | - | - |
|
|
-- |
Zellweger syndrome | - | + | - | - |
|
|
-- |
Pyruvate dehydrogenase deficiency | + | + | + | - | -- | ||
Arginase deficiency | + | - | - | - | -- | ||
Holocarboxylase synthetase deficiency | - | + | - | - | Elevated levels of:
|
-- | |
Glutaric aciduria type 1 | - | - | - | + |
|
Elevated levels of:
|
|
Ataxia telangiectasia | - | - | + | - |
|
|
-- |
Pontocerebellar hypoplasias | - | + | - | - |
|
Genetic testing for PCH gene mutations |
|
Metachromatic leukodystrophy | - | + | + | - |
|
|
-- |
Pelizaeus-Merzbacher | + | - | + | - |
|
| |
Angelman syndrome | - | - | + | - |
|
|
-- |
Rett syndrome | + | - | - | + |
|
-- | |
Lesch-Nyhan syndrome | + | - | - | + |
|
-- | |
Miller-Dieker lissencephaly | + | + | - | - |
|
|
-- |
Dopa-responsive dystonia | + | - | - | + |
|
|
-- |