Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-Rakeb syndrome. In addition to motor symptoms, a variety of other neurological and psychiatric symptoms may occur in affected individuals, including supranuclear gaze palsy and cognitive decline. Although psychotic symptoms are often reported, response to antipsychotic therapy is not well described in previous case reports/series.

Combination therapy for severe portopulmonary hypertension in a child allows for liver transplantation.

Severe PPHTN is a contraindication to liver transplantation and predicts an abysmal 5-year outcome. It is defined as a resting mPAP >45 mm Hg with a mean pulmonary artery wedge pressure of <15 mm Hg and pulmonary vascular resistance of >3 wood units in the setting of portal hypertension. There have been limited reports of successful treatment of PPHTN leading to successful liver transplantation in adults, and one reported use of monotherapy as a bridge to successful liver transplant in pediatrics.