Rare Diseases Symptoms Automatic Extraction

Child neurology: Zellweger syndrome.

[zellweger syndrome]

Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondroplasia punctata. Patients with ZS present in the neonatal period with a characteristic phenotype of distinctive facial stigmata, pronounced hypotonia, poor feeding, hepatic dysfunction, and often seizures and boney abnormalities. In patients with ZS, a mutation in one of the PEX genes coding for a peroxin (a peroxisome assembly protein) creates functionally incompetent organelles causing an accumulation of very long chain fatty acids (VLCFA), among other complications. Despite an absence of treatment options, prompt diagnosis of ZS is important for providing appropriate symptomatic care, definitive genetic testing, and counseling regarding family planning.

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