Cerebro-Hepato-Renal Syndrome was first reported in 1964 by Bowen, Lee, and Zellweger, hence it is also known as Bowen-Lee-Zellweger Syndrome. It is characterized by multiple malformations primarily affecting the nervous system, liver, and kidneys, without abnormal karyotypes. Both males and females can be affected, with a ratio of 1:2:7.

bubble_chart Etiology

The disease often occurs among siblings, with both parents of the patients being normal. No abnormal karyotypes have been found, so it is considered that the inheritance pattern of this disease is autosomal recessive.

bubble_chart Pathogenesis

The pathogenesis of this disease is unclear. Some believe it is due to dysfunction in placental iron transport.

bubble_chart Pathological Changes

Histopathological examination revealed abnormal brain tissue with sudanophilic leukodystrophy; liver cirrhosis with intrahepatic bile duct dysplasia; polycystic kidneys; cardiac malformations including patent ductus arteriosus and patent foramen ovale; atelectasis and hemosiderin deposition; islet cell hyperplasia; and thymic hypoplasia.

bubble_chart Clinical Manifestations

Facial and cranial deformities, such as ear malformations, prominent forehead, large fontanelle, flat occiput, epicanthus, white internal visual obstruction, periorbital edema, etc. Neurological symptoms include generalized muscle weakness, absent grasp reflex, spasms, and flexion contractures. Most patients exhibit growth retardation, hepatomegaly, and jaundice. Some cases are accompanied by bleeding; proteinuria, hypoglycemia, and cartilage calcification (especially in the iliac bone).

bubble_chart Diagnosis

Increased serum iron and iron-binding capacity aid in diagnosis, but not all patients exhibit these changes. Abnormalities can be observed in isotope renograms and pyelograms.

In terms of treatment, supportive therapy is generally employed. Most patients die within 3 to 6 months after birth.