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Título

SLEEP PATERNS AMONG PATIENTS WITH CEREBROTENDINOUS XANTHOMATOSIS

RESUMO

Case Reports: Two adult patients with CTX were evaluated with sleep anamnesis, physical exam and full-night type 1 polysomnogram. Case 1: J.R.A, male, 42 years old, presents generalized epilepsy and neuropsychomotor development delay since childhood. He had cataracts in his left eye, ataxia and tendon xanthomas.
C.M.C, female, 32 years old, presents alterations in neuropsychomotor development in childhood, in addition to diarrhea. She had bilateral visual acuity impairment, ataxia, pyramidal signs and tendon xanthomas.

Both patients had genetic confirmation.

Sleep events were scored according to standard clinical criteria according to the American Academy of Sleep Medicine guidelines. The patients reported no specific sleep complaint or daytime consequence. Physical examination of those subjects revealed cranial deformities including high-arched palate and maxillary hypoplasia. No soft tissue abnormalities where identified. Patient 1 polysomnography showed reduced sleep efficiency (37.2%), high apnea hypopnea index (AHI) (15.5events/h), high periodic leg movement index (PLMi)(77.4 events/h) and presence of alpha-delta pattern in NREM sleep. Patient 2 exam showed reduced sleep efficiency (80%), normal AHI (2.2 events/h) and presence of alpha-delta pattern.

Discussion: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive lipid storage disease caused by pathogenic variants in CYP27A1, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many organs. Clinical presentation is variable and characterized by cholestasis, refractory diarrhea, juvenile cataracts, tendon xanthomas, osteoporosis, coronary heart disease, and progressive neuropsychiatric disturbances. Neuropsychiatric abnormalities include intellectual disability or dementia, psychiatric symptoms, cerebellar signs, pyramidal signs, progressive myelopathy, peripheral neuropathy, extrapyramidal manifestations, and seizures. To our knowledge, sleep disorders have not been studied in these patients.

Conclusions: Patients with CTX may present higher prevalence of sleep disorders when compared with the general population. The absence of sleep complains could be related to an overlap of symptoms with other neuropsychiatric disorders. Other studies with higher number of patients are necessary to understand sleep disorders in these patients.

Palavras Chave

CEREBROTENDINOUS XANTHOMATOSIS, SLEEP DISORDERS