Objective: We describe the case of a female patient with HSD10 disease associated with parkinsonism, with a novel mutation in the HSD17B10 gene.

Background: HSD10 disease is a rare dominant X-linked mitochondrial disorder, associated with a hydroxysteroid 17-beta dehydrogenase type 10 (HSD10) deficiency and characterized by a progressive neurodevelopmental regression beginning in childhood. The phenotype is heterogeneous and may also include visual impairment, choreoathetosis, seizures and cardiomyopathy. To date, only a few female cases were reported.

Methods: Case report.

Results: The patient is a 22-year-old woman with healthy non-consanguineous parents. Normal cognitive and motor development were present until 6 years of age, when progressive loss of cognitive functions started and behavior changes were first noticed, with social isolation and trouble relating with other persons. Basic schooling was completed within a special education project. The patient was first seen at our Movement Disorders Outpatient Clinic at 17 years of age, presenting cognitive impairment, behavioral changes in the spectrum of an autistic disorder and an akinetic-rigid asymmetric parkinsonism. Generalized brisk reflexes and upper limb postural positive myoclonus were also noticed. Blood tests and brain MRI were normal. DaTSCAN revealed a slight asymmetry, with reduced uptake on the left putamen, although within normal ranges. Parkinsonism progressed during follow up. At 21 years psychotic symptoms emerged, presenting auditory verbal hallucinations, medicated with aripiprazole 15mg daily. Neuropsychological evaluation at 22 years revealed a mild cognitive deficit (IQ 54). She had a normal array CGH result. Whole Exome Sequencing identified a novel heterozygous mutation in the HSD17B10 gene (c.340 T>A, p.F114I), confirmed by Sanger sequencing, not present in the parents, consistent with HSD10 disease. The patient’s X inactivation study was normal. Biochemical urine studies were in accordance with genetic findings.

Conclusions: We report a female patient with a novel mutation on HSD17B10 gene presenting with a complex phenotype of cognitive and behavioral changes, progressive parkinsonism and psychosis. Our case expands the known heterogeneous phenotype of HSD10 disease reported in the literature and underlines the importance of considering mitochondrial disorders and HSD10 disease in the differential diagnosis of juvenile parkinsonism.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/juvenile-parkinsonism-associated-with-a-novel-hsd17b10-mutation-in-a-patient-with-hsd10-disease/