• Zahid A Awan
  • Anees -ur- Rehman
  • Alaf Khan


Hypercholesterolemia is a well-known risk factor for coronary heart disease, however we report a very rare disorder of lipid metabolism which is associated with coronary heart disease despite the fact that all the basic risk markers of dislipdemia like serum cholesterol, HDL, LDL and triglycerides are normal.


Argov Z, Softer D & Eisenberg S. Chronic

demyelinating peripheral neuropathy in CTX. AnnNeurol,

July; 20(1): 89-91.

Arlazaroft A, Roitberg B & Weber E. Epileptic seizure

as a presenting symptom of CTX. Epilepsia, 1991 SepOct;

(5): 657-61.

Baumgartner RW, Haser V, Grob P & Waespe W.

Schweiz-Me-Wachenschr, 1991 Jun 8; 121(23): 858-

Benjamin NP, Jeffery' MH & William EC. Aneurysmal

CAD in CTX. Am J Cardiol, 1988 May 1; 61: 1150-52.

Berginer VM, Salen G & Shefer S. Chenodeoxycholic

acid reduces elevated Plasma Cholestanol and

improves neurological function in CTX. N Eng J Med,

; 311; 1649-52.

Elleender M, Michalec C &, Jiresek A. Membranocystic

lesion in brain in CTX. Virchow S Arch-B cellpathol,

; 57(6): 367-74.

Fujiyama J, Kuriyama M & Yoshindome H. Japan J

Med, 1991 March-April; 30(2): 189- 92.

Fukuo Y, Hayama N & Hara K. Effect of LDLapheresis

on a case of CTX. Rinsho- Shinkeigaku. 1989

Feb; 29(20): 196-201.

Kata DA, Scheinberg L & Horon-Pain DS. Peripheral

neuropathy in CTX. Arch Neurol, 1985 Oct; 42(10):


Koop-Man BI, Wolthers BG & Jander-Mollen JC. Clin

Client Acta, 1984 Sept. 15; 142(1): 103-11.

Kuriyama M, Fujiyama J & Youshidoma H. CTX:

clinical and biochemical evaluation of 8 patients and

review of literature. J Neurol Sc, 1991 Apr; 102(2):


Matsiumuro K, Takahashi J, Matsumoto H & Okatsu

Y. A case of CTX with convulsive seizures. Rinshoshinkeigaku,

Feb; 30(2): 207-9.

Mimura Y, Kuriyama M & Tokimura Y. Treatment of

CTX with LDL-apheresis. J Neurol Sci, 1993 Feb;

(2): 227-30.

Pop PH, Joosten E & Van-Spreeken A. Neuroaxonal

pathology of central and peripheral nervous system in

CTX. Acta Neuro-pathol Berl, 1984; 64(3): 259-64.

Shibata N, Moroo I & Hayashi M. Parkinsonism

associated with CTX. Rinsho Shin- keigaku, 1990 Feb;

(9): 978-84.

Shrede S, Biorkheim I, Kvittingen EA & East, C.

Reduced C27-steriod 26-hydroxylase activity in

heterozygotes for CTX. Scan J Clin Lab Invest, 1988

Sep; 48(5): 425-29.

Skrede S, Biorkhem I & Kvittingen EA. Demonstration

of 26-Hydroxylation of C27- steroids in human skin

fibroblasts and a deficiency of this activity in CTX. J

Clin Invest, 1988 Sep; 78(3): 729-35.

Rander-Pas J. Congenital deficiencies in bile acid

synthesis: From diagnosis to treatment. Rev Med Brux,

April; 14(4): 110-15.

Van-HellenBerg-Huber JL, Joosten EM & Wavers RA.

Cerebrotendinous XanthomatosisSurg, 1992; 94, Suppl: 8165-67.