A Case Report Of Tangier Disease Presents With Acute Sensorimotor Polyneuropathy And Its Treatment Approach

Available online 2 December 2023

Author links open overlay panel, , , , ABSTRACT

Polyneuropathy is a frequently encountered clinical presentation where peripheral nerves are affected due to the same cause and physiopathological processes. We report a case of acute sensorimotor polyneuropathy in a patient with Tangier disease (TD) who was treated with miglustat which is a glycosphingolipid synthesis inhibitor. TD is a very rare genetic disorder caused by mutations in the ABCA1 gene which encodes the cholesterol efflux regulatory protein. It leads to accumulation of cholesterol esters within various tissues and affects lipid metabolism by deficiency of high-density lipoprotein (HDL) in the blood. Due to the accumulation of cholesterol esters in Schwann cells, it could provoke polyneuropathy in TD. Our case presented to our clinic with quadriparesis and after treated with miglustat therapy his weakness regressed.

Section snippetsINTRODUCTION

Tangier disease (TD) is a very rare disorder, inherited autosomal recessively due to mutations in encoding ATP-binding cassette transporter 1 (ABCA1) gene on chromosome 9q311,2,3. In lipid metabolism, apolipoprotein (Apo) A-1 takes cholesterol esters from peripheral tissues via ABCA1 receptors and then transfers them to HDL-3 with the help of lecithin-cholesterol acyltransferase1,2,3. HDL-3 density range is predominantly comprised of particles containing apoA-1 and apoA-2 (small HDL, very small

CASE REPORT

A 18-year-old boy presented to our clinic in 2021 with numbness originating at his feet and expanding to his knees along the course of a week, followed by weakness in hands and lower extremities. His medical history revealed thrombocytopenia since childhood and a tonsillectomy operation at age 7. Family history showed us that his parents were first degree cousins. His mother had a splenectomy operation secondary to immune thrombocytopenia purpura (ITP). The patient has 2 sisters and a brother.

DISCUSSION

TD is a very rare genetic disorder among the causes of polyneuropathy.1,4,5 It could cause neuropathy by demyelination of nerves secondary to cholesterol deposition in Schwann cells.1,2,4

In the literature, a few cases have been reported about the treatment of peripheral neuropathy secondary to TD4 One of these patients was treated by prednisone (1 mg/kg/day) and azathiopurine with the diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP), in another case it was observed that the

DISCLOSURES

None declared.

AUTHOR CONTRİBUTİONS

All authors were involved in the patient's care and made contributions to the writing of the final manuscript.

ETHICAL APPROVAL

In this case report, the patient's consent was obtained.

USE OF AI AND AI-ASSİSTED TECHNOLOGİES STATEMENT

It has not been used.

FUNDING SOURCES

None

CRediT authorship contribution statement

Saniye Karabudak: Data curation, Formal analysis, Investigation, Writing – original draft, Writing – review & editing. Vildan Güzel: Investigation, Supervision. Beril Güler: Investigation, Resources, Writing – review & editing. Bülent Uyanık: Investigation, Methodology, Writing – review & editing. Azize Esra Gürsoy: Investigation, Supervision, Writing – review & editing.

Declaration of Competing Interest

There is no conflict of interest.

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S Rust et al.Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

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M Bodzioch et al.The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

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M Mercan et al.Peripheral neuropathy in Tangier disease: A literature review and assessment