Clinical Case Summary
Joubert Syndrome (JS) is a rare genetic disorder, affecting approximately 1 in 80,000–100,000 live births. It is characterized by hypotonia, developmental delay, cerebellar ataxia, and the hallmark "molar tooth sign" (MTS) on brain imaging. Even rarer is its hepatic manifestation, Joubert Syndrome with hepatic defect (JS-H), which occurs in 6%–14% of cases and is commonly associated with congenital hepatic fibrosis (CHF). This report presents the first genetically confirmed case of JS-H in the Philippines.
A 19-year-old male with developmental delay, dysarthria, and ataxia presented with jaundice, abdominal distention, and upper gastrointestinal bleeding. On admission, he exhibited distinct facial features, neurological deficits, and signs of portal hypertension. Laboratory tests revealed pancytopenia, liver dysfunction, and coagulopathy. Esophagogastroduodenoscopy identified type 1 gastroesophageal varices (GOV1). Cranial imaging confirmed MTS. Whole exome sequencing revealed pathogenic TMEM67 variants, establishing the diagnosis of JS-H. Other potential causes of advanced liver fibrosis were systematically ruled out.
Management focused on hemodynamic stabilization. The patient received blood transfusions, somatostatin analogs, non-selective beta-blockers, antibiotics, and diuretics, along with nutritional support and rehabilitative therapies. Due to resource limitations, medical management was optimized. With a MELD 3.0 score predicting a 96% 90-day survival rate, the patient is a potential liver transplant candidate. He was discharged in stable condition, with ongoing surveillance for multi-organ involvement and malignancy.
This case highlights the diagnostic challenges of JS-H and underscores the critical need for early recognition, genetic testing, and a multidisciplinary approach. Increased awareness can lead to earlier interventions and improved outcomes for affected individuals.
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