Zellweger syndrome - a lethal peroxisome biogenesis disorder.

[zellweger syndrome]

Zellweger syndrome (ZS ) is the severest variety of peroxisomal biogenesis disorder (PBD ). This is a fatal hereditary , autosomal recessive disorder . It is characterized by the absence of peroxisomes in the cells which are essential for many metabolic functions especially beta oxidation of very long chain fatty acids (VLCFAs ). We report the case of a female Saudi toddler . She presented with dysmorphism , profound hypotonia , psychomotor retardation , seizures , and loss of hearing and vision with findings of optic atrophy . Biochemical study revealed significantly elevated level of VLCFAs , cerotic acid and phytanic acid . She also had periventricular leukomalacia and abnormal electroencephalography results and a PEX 1 gene mutation . The clinical data and investigations were consistent with ZS . As it is fatal in early life , genetic counseling and prenatal diagnosis are thus crucial .

Diseases
Validation

Diseases presenting "seizures" symptom

alexander disease

alpha-thalassemia

cadasil

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

erdheim-chester disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

legionellosis

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

phenylketonuria

proteus syndrome

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated