Zellweger spectrum disorders: clinical overview and management approach

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

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

ISSN: 1750-1172