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Replacement therapy with Chenodeoxycholic Acid delays or even reverses the progression of the disease; however, because there is a lag period between the onset of symptoms and the mean age of diagnosis, early diagnosis is required to prevent devastating neurological sequelae and other complications such as premature atherosclerosis and osteoporosis. So a high index of suspicion should be kept in any patient encountered with the classical triad as illustrated in the present case report. Cerebrotendinous xanthomatosis is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae. So diagnosis should be as early as possible.

It's main effect is to reduce the saturation of bile cholesterol, and is the drug of choice. The replacement therapy can prevent or even reverse neurological complications and involves administration of bile acids such as Chenodeoxycholic Acid, ursodeoxycholic acid, cholic acid, and taurocholic acid. Among these, CDCA is considered the drug of choice. Hydroxymethylglutaryl-CoA (HMG-CoA) synthase inhibitors are considered to enhance the effect of replacement therapy. Surgery may deteriorate gait imbalance and does not prevent neurological complications. CTX is a rare and underreported lipid storage disorder. Although it is medically manageable, a delay in diagnosis can be devastating for the patient so early diagnosis based on a high index of suspicion is imperative for better management. CTX has many types, clinical manifestations vary, often involving the nervous system, while the performance of demyelinating disease. Mostly autosomal recessive inheritance. Niemann - Pick &-Jakob disease is one of the type. A lipid metabolism diseases. More common in Jews, China has also been reported. Congenital nerve myelin sheath enzyme deficiency, causes reticular tissue cells accumulate sphingomyelin, forming a typical Niemann - Peake-Jakob disease caused by cells. Also known as the myelin sheath of nerve disease. Autosomal recessive inheritance. Niemann - Peake-Jakob cells are widely present in the spleen, liver, bone marrow, lymph nodes and ganglion cells. 

The laboratory findings include a normal or reduced serum cholesterol level, increased serum cholestanol, increased 7α hydroxy-4-cholesten-3-one (7αC4), increased lathosterol, increased plant sterols (campesterol, sitosterol), increased serum and urinary bile acid alcohols but reduced serum Chenodeoxycholic Acid and 27-hydroxycholesterol (27-OHC). Typical MRI findings are bilateral T2 and FLAIR hyperintense, nonhomogeneous signals in dentate nuclei and surrounding cerebellum. There are diffuse or focal white matter abnormalities along with cerebral and cerebellar atrophy. MRS studies reveal increased lactate and lipid peaks in FLAIR sequence-hypointense lesions, and diffusely decreased NAA peaks. Microscopy reveals foamy cells admixed with inflammatory cells and giant cells surrounding cholesterol clefts. These laboratory findings exactly correlate with those of our patient in the present discussion.

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