Cataract development and neurologic diseases are not present, which may help differentiate from CTX. [ncbi.nlm.nih.gov]

Cerebrotendinous xanthomatosis presenting with bilateral Achilles tendon xanthomata. Skeletal Radiol. 2007; 36: 171-175. Marini MA, Ubaldini G, Reisin R et al. Xantomatosis cerebrotendinosa. A propуsito de un caso. [medigraphic.com]

• Epilepsy

  Neurologic sequela of the disease is progressive, which includes epilepsy, peripheral neuropathy, ataxia, and dementia. [ncbi.nlm.nih.gov]

• Movement Disorder

  Movement disorders in cerebrotendinous xanthomatosis. Parkinsonism Relat Disord. 2019;58:12–16. [PubMed: 30054180] 24. Bjorkhem I, Andersson O, Diczfalusy U, Sevastik B, Xiu RJ, Duan C, Lund E. [ncbi.nlm.nih.gov]

• Diarrhea

  The symptoms typically appear in infancy, including intractable diarrhea, neonatal jaundice, or cholestasis. Some patients may develop chronic diarrhea through adulthood. [ncbi.nlm.nih.gov]

• Chronic Diarrhea

  Should children with chronic diarrhea be referred to a lipid clinic? J Clin Lipidol. 2018;12(5):1099–1101. [PubMed: 30017467] 41. [ncbi.nlm.nih.gov]

• Jaundice

  Neonatal cholestatic jaundice and infantile-onset diarrhea with failure to thrive may be the earliest clinical manifestation (15-17). Childhood-onset cataracts are a common early symptom, described in 92% patients with CTX. [ncbi.nlm.nih.gov]

• Neonatal Jaundice

  The symptoms typically appear in infancy, including intractable diarrhea, neonatal jaundice, or cholestasis. Some patients may develop chronic diarrhea through adulthood. [ncbi.nlm.nih.gov]

• Xanthoma

  xanthomas and a family history of premature atherosclerosis. [ncbi.nlm.nih.gov]

  However, up to 30% of the patients do not show severe xanthomas. Especially in early stages of the disease the diagnosis may be difficult. [thieme-connect.com]

• Osteoporosis

  Calcium and vitamin D are supplemented for patients with osteoporosis.[13] Xanthomas may be surgically removed for cosmetic reasons. [ncbi.nlm.nih.gov]

• Myopathy

  As statins pose an increased risk of myopathy, coenzyme Q10 is taken concomitantly to improve muscle weakness.[10] Patients are treated symptomatically for the neurologic and non-neurologic manifestations of CTX. [ncbi.nlm.nih.gov]

• Muscle Weakness

  As statins pose an increased risk of myopathy, coenzyme Q10 is taken concomitantly to improve muscle weakness.[10] Patients are treated symptomatically for the neurologic and non-neurologic manifestations of CTX. [ncbi.nlm.nih.gov]

• Psychiatric Symptoms

  The range of symptoms are wide and include intellectual disability; dementia; psychiatric symptoms (i.e., behavioral changes, depression, agitation, hallucination, and suicide attempts); pyramidal signs (spasticity, hyperreflexia, extensor plantar responses [ncbi.nlm.nih.gov]

• Ataxia

  Cholestanol and cholesterol accumulate in many tissues, including brain (primarily white matter), leading to progressive neurological dysfunction marked by dementia, spinal cord paresis, and cerebellar ataxia. [ncbi.nlm.nih.gov]

  Gait ataxia and mild polyneuropathy were noted in the neurological examination. She also had painful xanthomas of the achilles tendons. A bilateral cataract operation had been performed during adolescence. [thieme-connect.com]

• Peripheral Neuropathy

  Neurologic sequela of the disease is progressive, which includes epilepsy, peripheral neuropathy, ataxia, and dementia. [ncbi.nlm.nih.gov]

• Dystonia

  The neurologic manifestations are ample and may include ataxia, dystonia, epilepsy, intellectual disability, dementia, peripheral neuropathy, and parkinsonism. [ncbi.nlm.nih.gov]

• Neurologic Manifestation

  Psychiatric manifestations may be behavioral disorders, personality disorders, autism, or attentional deficits.[8] Neurologic symptoms and signs typically manifest in the third decade of life and progressively worsen. [ncbi.nlm.nih.gov]

• Cerebellar Sign

  cerebellar signs (progressive ataxia, dysarthria); movement disorder (parkinsonism, dystonia, myoclonus, postural tremor); seizures; and peripheral neuropathy (1,4,21-23). [ncbi.nlm.nih.gov]

Treatment with CDCA is treatment of choice, however cholic acid, HMG-Co-A reductase inhibitors, and surgical excision also play a role in management. [ncbi.nlm.nih.gov]

[…] is generally associated with better prognosis (6). [ncbi.nlm.nih.gov]

Objectives: Identify the etiology of cerebrotendinous xanthomatosis. Outline the evaluation of cerebrotendinous xanthomatosis. Review the management for patients with cerebrotendinous xanthomatosis. [ncbi.nlm.nih.gov]

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). J Inherit Metab Dis. 2017 Nov;40(6):771-781. [PubMed: 28980151] 2. Mignarri A, Gallus GN, Dotti MT, Federico A. [ncbi.nlm.nih.gov]

In CTX pathophysiology, there is markedly reduced production of bile acids, especially chenodeoxycholic acid (CDCA), and to a lesser extent cholic acid (CA). [ncbi.nlm.nih.gov]

Treatment can be efficacious and should be started as early as possible to prevent irreversible damage, particularly in the nervous system. [thieme-connect.com]

Screening of all first-degree relatives, when feasible, should be considered as early detection and treatment are the most important aspects for preventing morbidity and mortality (40). [ncbi.nlm.nih.gov]