Abstract
Here, we report on a neonate who was born at 38 weeks and 6 days of gestation with a birth body weight of 2,856g. He
presented with a classical clinical picture of Zellweger syndrome (i.e., severe hypotonia, abnormal facial appearance in
the form of a high forehead with a widely open anterior fontanel, saddle nose and brachygnathia, multiple cysts of the
kidneys, abnormal calcifications in the knee joints, hepatomegaly and early onset severe hypertransaminasemia). Since
elevated levels of very long chain fatty acids (VLCFA) in the lipid profile were detected, he was diagnosed with Zellweger syndrome. Patients with this disease usually die during the first year of life, therefore the patient was highly dependent on medical care, and the parents wished to take him home to receive palliative care along with regular medical visits. Zellweger syndrome should be considered in infants with severe hypotonia and early onset hepatocellular disorder and VLCFA measurement is essential for diagnosis.
