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A man with sporadic Perrault syndrome – A case report

RESUMO

Case presentation: Male patient, 35 years old, 12 years ago started with gait ataxia and vertigo. Previous history of bilateral hearing loss at the age 8 years, had normal neurodevelopment and no other systemic diseases. He is an only child, has no family history of neurological disease and denies consanguinity between his parents and other family members. Physical examination showed ataxic gait, monocular diplopia, dysmetria, dysdiadochokinesia and hyperreflexia with an exhaustible clonus in the lower limbs. He performed an extensive complementary investigation, audiometric exam with bilateral sensorineural hearing loss, brain MRI with cerebellar atrophy, EEG and blood laboratory tests were unremarkable. Afterwards, an exome sequence was performed, and mutation of the HSD17B4 gene was identified, a missense compound heterozygosity. Thus, the diagnosis of Perrault Syndrome was made.
Discussion: Perrault syndrome is a rare disease, with autosomal recessive inheritance. It manifests with bilateral sensorineural hearing loss in both men and women and varies in severity from moderate to severe, with onset in early childhood. Ovarian dysfunction in women with a 46, XX karyotype is expected, ranging from primary ovarian failure to ovarian dysgenesis. Fertility in affected men is generally reported as normal, although the number of men diagnosed is limited. Neurological manifestations are not common but may include learning disabilities and developmental delay, cerebellar ataxia and peripheral sensory and motor neuropathy. The diagnosis is confirmed molecularly by the presence of biallelic pathogenic variants in one of six genes: CLPP, ERAL1, HARS2, HSD17B4, LARS2 and TWNK. Markedly, our patient manifested this disease with a wide range of neurologic symptoms, besides the expected hearing loss. Therefore, this was a challenging diagnosis, since he had no sister, making in difficult to conclude without genetic testing.
Final comments: Perrault syndrome is a rare disease and there are no formal criteria for its diagnosis. The degree of diagnostic difficulty increases when related to male patients who do not have an affected sister. Genetic tests play an important role in the early diagnosis of the disease.

Palavras Chave

Perrault syndrome; sensorineural hearing loss; male; HSD17B4 gene