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Table 2 Differential diagnosis of ZSDs based on the most prominent presenting symptom

From: Zellweger spectrum disorders: clinical overview and management approach

Main presenting symptom Differential diagnosis
Hypotonia in newborns Chromosomal abnormalities (Down syndrome, Prader-Willi syndrome)
Congenital infections (cytomegalovirus, rubella, herpes simplex, toxoplasmosis)
Hypoxic ischemic encephalopathy
Cerebral malformations
Other metabolic disorders (acid maltase deficiency, carnitine deficiency, cytochrome-c-oxidase deficiency)
Other peroxisomal disorders (acyl-CoA oxidase type 1 deficiency, D-bifunctional protein deficiency)
Spinal muscular atrophy
Congenital muscular dystrophies
Congenital myopathies
Hereditary motor and sensory neuropathy
Bilateral cataract Idiopathic
Congenital infections
Other peroxisomal disorders (rhizomelic chondrodysplasia punctata, classical Refsum disease, 2-methylacyl-CoA racemase deficiency)
Other metabolic disorders (galactosemia)
Lowe syndrome
Sensorineural hearing loss with retinitis pigmentosa Usher syndrome type I,II
Other peroxisomal disorders (classical Refsum disease)
Mitochondrial disorders
Cockayne syndrome
Alport syndrome
Waardenburg syndrome
Adrenocorticol insufficiency Autoimmune adrenalitis
Infectious adrenalitis
Adrenal hemorrhage
Adrenal hypoplasia
X-linked adrenoleukodystrophy
Deficient cholesterol metabolism
Familial glucocorticoid deficiency